GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CLN3 I105Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS18942-1100-36-ASM
CLN3 L224Shiftinsufficiently evaluated not reviewed, f=0.009unknown var-GS18942-1100-36-ASM
CLN3 R272Winsufficiently evaluated not reviewedunknown
CLN3 E295Kinsufficiently evaluated pathogenicunknown

(64 web hits)

CLN3 H404Rinsufficiently evaluated not reviewed, f=0.112unknown var-GS18501-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM
CLN3 H404Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS19701-1100-36-ASM
Total results: 6

Gene search

"GENE" or "GENE A123C":

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