GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ABCB7 W41Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS19025-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
ABCB7 Q68Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS19238-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
ABCB7 T258Sinsufficiently evaluated not reviewedunknown
ABCB7 V344Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
ABCB7 I400Minsufficiently evaluated pathogenicunknown

(13 web hits)

ABCB7 V411Linsufficiently evaluated pathogenicunknown

(38 web hits)

ABCB7 E433Kinsufficiently evaluated pathogenicunknown

(10 web hits)

ABCB7 A581Vinsufficiently evaluated none, f=0.104unknown

(1 web hit)

hu3215A7 build 36 substitution variants (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
Total results: 8

Gene search

"GENE" or "GENE A123C":

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