GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC26A3 I81Vinsufficiently evaluated not reviewed, f=0.014unknown var-GS19020-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18505-1100-36-ASM
SLC26A3 H124Linsufficiently evaluated pathogenicunknown

(13 web hits)

SLC26A3 E172Kinsufficiently evaluated noneunknown
SLC26A3 A180AAinsufficiently evaluated not reviewed, f=0.008unknown
SLC26A3 G187Xinsufficiently evaluated pathogenicunknown

(13 web hits)

SLC26A3 C307Winsufficiently evaluated not reviewed, f=0.033unknown

(6 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS20502-1100-36-ASM
hu728FFF build 36 substitution variants
SLC26A3 D320Ginsufficiently evaluated noneunknown
SLC26A3 R399Shiftinsufficiently evaluated not reviewedunknown CGI sample GS000005532
CGI sample GS00253-DNA_G01_200_37
SLC26A3 S400Ainsufficiently evaluated not reviewedunknown CGI sample GS000005532
CGI sample GS00253-DNA_G01_200_37
SLC26A3 W462Xinsufficiently evaluated pathogenicunknown

(5 web hits)

SLC26A3 T510Minsufficiently evaluated none, f=0.008unknown hu3215A7 build 36 substitution variants
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
SLC26A3 R554Qinsufficiently evaluated none, f=0.000unknown

(1 web hit)

SLC26A3 N753Sinsufficiently evaluated none, f=0.010unknown hu3215A7 build 36 substitution variants
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
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Total results: 13

Gene search

"GENE" or "GENE A123C":

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