GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CHRNG Q18Xinsufficiently evaluated pathogenicunknown

(2 web hits)

CHRNG R46Xinsufficiently evaluated pathogenicunknown

(2 web hits)

CHRNG A149Tinsufficiently evaluated none, f=0.018unknown var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18526-1100-36-ASM
var-GS18940-1100-36-ASM
CHRNG R217Cinsufficiently evaluated pathogenicunknown

(5 web hits)

CHRNG V367Ainsufficiently evaluated none, f=0.001unknown var-GS18517-1100-36-ASM
CHRNG R373Qinsufficiently evaluated not reviewed, f=0.000unknown var-GS19017-1100-36-ASM
CHRNG R448Xinsufficiently evaluated pathogenicunknown

(5 web hits)

CHRNG P506Sinsufficiently evaluated none, f=0.006unknown CGI sample GS00253-DNA_E01_200_37
Total results: 8

Gene search

"GENE" or "GENE A123C":

Log in