ClinVar Miner

List of variants in gene FAH reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_000137.3(FAH):c.1009G>A (p.Gly337Ser) rs80338900
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000137.3(FAH):c.1025C>T (p.Pro342Leu) rs779040832
NM_000137.3(FAH):c.1027G>T (p.Gly343Trp) rs970505762
NM_000137.3(FAH):c.1062+5G>A rs80338901
NM_000137.3(FAH):c.1069G>T (p.Glu357Ter) rs121965075
NM_000137.3(FAH):c.1090G>T (p.Glu364Ter) rs121965076
NM_000137.3(FAH):c.1141A>G (p.Arg381Gly) rs121965077
NM_000137.3(FAH):c.192+1G>T rs786204683
NM_000137.3(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.3(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.3(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.3(FAH):c.47A>T (p.Asn16Ile) rs121965073
NM_000137.3(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.3(FAH):c.553+2_553+3del rs1555441272
NM_000137.3(FAH):c.554-1G>T rs80338895
NM_000137.3(FAH):c.607-6T>G rs80338896
NM_000137.3(FAH):c.698A>T (p.Asp233Val) rs80338897
NM_000137.3(FAH):c.706+2T>G rs1555441597
NM_000137.3(FAH):c.707-1G>A rs149052294
NM_000137.3(FAH):c.709C>T (p.Arg237Ter) rs769550316
NM_000137.3(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000137.3(FAH):c.786G>A (p.Trp262Ter) rs80338899
NM_000137.3(FAH):c.81+2T>A rs772895065
NM_000137.3(FAH):c.82_83del (p.Pro28fs)
NM_000137.3(FAH):c.835del (p.Gln279fs) rs1555441703
NM_000137.3(FAH):c.836A>G (p.Gln279Arg) rs121965078
NM_000137.4(FAH):c.1003_1004del (p.Val335fs)
NM_000137.4(FAH):c.1180+1G>A
NM_000137.4(FAH):c.978dup (p.Leu327fs)
NM_000137.4(FAH):c.982C>T (p.Gln328Ter)

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