GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TRPM6 T2Iinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
TRPM6 N48Tinsufficiently evaluated not reviewedunknown
TRPM6 R56Xinsufficiently evaluated pathogenicunknown

(5 web hits)

TRPM6 S90Cinsufficiently evaluated not reviewed, f=0.003unknown var-GS19026-1100-36-ASM
TRPM6 S141Linsufficiently evaluated pathogenicunknown

(50 web hits)

TRPM6 G171Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
TRPM6 G296Sinsufficiently evaluated not reviewedunknown

(1 web hit)

TRPM6 Y431Finsufficiently evaluated noneunknown
TRPM6 R484Xinsufficiently evaluated pathogenicunknown

(5 web hits)

TRPM6 G484Rinsufficiently evaluated not reviewed, f=0.004unknown var-GS18505-1100-36-ASM
TRPM6 H547Yinsufficiently evaluated not reviewed, f=0.033unknown var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19238-1100-36-ASM
TRPM6 H584Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
TRPM6 S590Xinsufficiently evaluated pathogenicunknown

(9 web hits)

TRPM6 R689Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
TRPM6 V875Finsufficiently evaluated not reviewed, f=0.115unknown hu34D5B9 exome
TRPM6 M1162Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
TRPM6 Q1274Rinsufficiently evaluated not reviewed, f=0.010unknown var-GS19017-1100-36-ASM
TRPM6 V1388Iinsufficiently evaluated not reviewedunknown
TRPM6 V1393Iinsufficiently evaluated none, f=0.144unknown

(9 web hits)

var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM
TRPM6 P1439Rinsufficiently evaluated not reviewedunknown
TRPM6 K1579Einsufficiently evaluated not reviewedunknown
TRPM6 K1584Einsufficiently evaluated none, f=0.237unknown

(12 web hits)

var-GS19025-1100-36-ASM
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
TRPM6 Q1658Rinsufficiently evaluated not reviewedunknown
TRPM6 Q1663Rinsufficiently evaluated not reviewed, f=0.007unknown CGI sample GS00253-DNA_F01_200_37
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Total results: 24

Gene search

"GENE" or "GENE A123C":

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