GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CLCN5 G57Vinsufficiently evaluated pathogenicunknown

(15 web hits)

CLCN5 L200Rinsufficiently evaluated pathogenicunknown

(7 web hits)

CLCN5 R239Cinsufficiently evaluated not reviewedunknown

(2 web hits)

CLCN5 S244Linsufficiently evaluated pathogenicunknown

(45 web hits)

CLCN5 G260Vinsufficiently evaluated pathogenicunknown

(4 web hits)

CLCN5 W279Xinsufficiently evaluated pathogenicunknown

(9 web hits)

CLCN5 R280Pinsufficiently evaluated pathogenicunknown

(6 web hits)

CLCN5 R309Cinsufficiently evaluated not reviewed, f=0.011unknown CGI sample GS00253-DNA_C01_200_37
CLCN5 W343Xinsufficiently evaluated pathogenicunknown

(10 web hits)

CLCN5 G506Einsufficiently evaluated pathogenicunknown

(8 web hits)

CLCN5 S520Pinsufficiently evaluated pathogenicunknown

(11 web hits)

CLCN5 R648Xinsufficiently evaluated pathogenicunknown

(19 web hits)

CLCN5 R704Xinsufficiently evaluated pathogenicunknown

(16 web hits)

CLCN5 T727Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS19020-1100-36-ASM (hom)
Page: 1 2
Total results: 14

Gene search

"GENE" or "GENE A123C":

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