ClinVar Miner

List of variants in gene GORAB reported as pathogenic for not provided

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_152281.3(GORAB):c.-48dup rs759432675 0.00005
NM_152281.3(GORAB):c.367G>T (p.Glu123Ter) rs119455951 0.00002
NC_000001.10:g.(?_170501104)_(170508635_?)del
NC_000001.10:g.(?_170501290)_(170511753_?)del
NC_000001.11:g.170532156G>A
NC_000001.11:g.170532158_170532179dup
NM_152281.3(GORAB):c.-11G>A
NM_152281.3(GORAB):c.-23G>A
NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)
NM_152281.3(GORAB):c.118C>T (p.Arg40Ter) rs369967804
NM_152281.3(GORAB):c.136G>T (p.Glu46Ter)
NM_152281.3(GORAB):c.139C>T (p.Gln47Ter)
NM_152281.3(GORAB):c.14G>A (p.Trp5Ter)
NM_152281.3(GORAB):c.190C>T (p.Gln64Ter) rs1461050152
NM_152281.3(GORAB):c.206dup (p.Gln71fs)
NM_152281.3(GORAB):c.210del (p.Lys70fs)
NM_152281.3(GORAB):c.216_217del (p.Arg72fs)
NM_152281.3(GORAB):c.221del (p.Asn74fs)
NM_152281.3(GORAB):c.257del (p.Pro86fs)
NM_152281.3(GORAB):c.276del (p.Ser93fs) rs1558004538
NM_152281.3(GORAB):c.301C>T (p.Gln101Ter)
NM_152281.3(GORAB):c.408_409del (p.Lys137fs) rs1085307068
NM_152281.3(GORAB):c.409A>T (p.Lys137Ter)
NM_152281.3(GORAB):c.411del (p.Val138fs) rs2101821382
NM_152281.3(GORAB):c.420-2A>T rs1558006532
NM_152281.3(GORAB):c.453del (p.Glu152fs)
NM_152281.3(GORAB):c.483del (p.Lys161fs) rs1460371555
NM_152281.3(GORAB):c.492dup (p.Ala165fs)
NM_152281.3(GORAB):c.53del (p.Gln18fs)
NM_152281.3(GORAB):c.556_557del (p.Lys186fs)
NM_152281.3(GORAB):c.559del (p.Arg187fs)
NM_152281.3(GORAB):c.650_660del (p.Tyr217fs)
NM_152281.3(GORAB):c.679_680insATCTTTATACACATCCTTACAGGAAGCGGTA (p.Ala227fs)
NM_152281.3(GORAB):c.679del (p.Ala227fs)
NM_152281.3(GORAB):c.726_727del (p.Glu243fs)
NM_152281.3(GORAB):c.744_747del (p.Thr249fs)
NM_152281.3(GORAB):c.79C>T (p.Arg27Ter) rs770355472
NM_152281.3(GORAB):c.7C>T (p.Gln3Ter)

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