ClinVar Miner

List of variants in gene VCP reported as pathogenic for frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_007126.5(VCP):c.1460G>A (p.Arg487His) rs767379602 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007126.5(VCP):c.1774G>A (p.Asp592Asn) rs387906790
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) rs863225291
NM_007126.5(VCP):c.277C>T (p.Arg93Cys) rs1554669087
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332
NM_007126.5(VCP):c.290G>A (p.Gly97Glu) rs864309502
NM_007126.5(VCP):c.463C>A (p.Arg155Ser) rs121909330
NM_007126.5(VCP):c.463C>T (p.Arg155Cys) rs121909330
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007126.5(VCP):c.464G>C (p.Arg155Pro) rs121909329
NM_007126.5(VCP):c.466G>A (p.Gly156Ser)
NM_007126.5(VCP):c.469G>A (p.Gly157Arg) rs1554668814
NM_007126.5(VCP):c.472A>G (p.Met158Val) rs1554668813
NM_007126.5(VCP):c.475C>G (p.Arg159Gly) rs387906789
NM_007126.5(VCP):c.475C>T (p.Arg159Cys) rs387906789
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_007126.5(VCP):c.572G>C (p.Arg191Pro) rs121909334

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