GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CLCN7 D48Ginsufficiently evaluated not reviewedunknown
CLCN7 D72Ginsufficiently evaluated not reviewedunknown
CLCN7 K141Rinsufficiently evaluated not reviewedunknown
CLCN7 K165Rinsufficiently evaluated not reviewedunknown
CLCN7 I261Finsufficiently evaluated pathogenicunknown

(5 web hits)

CLCN7 V394Minsufficiently evaluated noneunknown
CLCN7 V418Minsufficiently evaluated none, f=0.126unknown

(28 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS19669-1100-36-ASM
CLCN7 Q555Xinsufficiently evaluated pathogenicunknown

(12 web hits)

CLCN7 R762Qinsufficiently evaluated pathogenicunknown

(12 web hits)

CLCN7 L766Pinsufficiently evaluated pathogenicunknown

(6 web hits)

CLCN7 R767Winsufficiently evaluated pathogenicunknown

(30 web hits)

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Total results: 11

Gene search

"GENE" or "GENE A123C":

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