GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CYP11B2 A29Tinsufficiently evaluated none, f=0.012unknown

(2 web hits)

hu3215A7 build 36 substitution variants
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS19238-1100-36-ASM
CYP11B2 R30Qinsufficiently evaluated not reviewed, f=0.003unknown

(1 web hit)

var-GS18505-1100-36-ASM
CYP11B2 K173Rinsufficiently evaluated not reviewed, f=0.374unknown

(66 web hits)

hu232307 build 36 substitution variants
CYP11B2 T185Iinsufficiently evaluated pathogenicunknown

(9 web hits)

CYP11B2 I248Tinsufficiently evaluated not reviewed, f=0.008unknown

(4 web hits)

var-GS18505-1100-36-ASM
CYP11B2 E255Xinsufficiently evaluated pathogenic, f=0.000unknown

(23 web hits)

CYP11B2 E272Xinsufficiently evaluated pathogenicunknown
CYP11B2 N281Sinsufficiently evaluated not reviewed, f=0.009unknown var-GS19704-1100-36-ASM
CYP11B2 L327Finsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_F01_200_37
CYP11B2 I339Tinsufficiently evaluated none, f=0.136unknown

(13 web hits)

var-GS19701-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
CYP11B2 V386Ainsufficiently evaluated not reviewed, f=0.063unknown

(146 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19026-1100-36-ASM
CYP11B2 G435Sinsufficiently evaluated none, f=0.022unknown

(6 web hits)

var-GS18526-1100-36-ASM
CYP11B2 H439Yinsufficiently evaluated not reviewed, f=0.028unknown var-GS18526-1100-36-ASM
CYP11B2 L461Pinsufficiently evaluated pathogenicunknown

(5 web hits)

CYP11B2 T498Ainsufficiently evaluated pathogenicunknown

(8 web hits)

Page: 1 2
Total results: 15

Gene search

"GENE" or "GENE A123C":

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