ClinVar Miner

List of variants reported as pathogenic for inclusion body myopathy with Paget disease of bone and frontotemporal dementia by OMIM

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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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.476G>A (p.Arg159His) rs121909335 0.00001
NM_002137.4(HNRNPA2B1):c.869A>T (p.Asp290Val) rs397515326
NM_007126.5(VCP):c.283C>G (p.Arg95Gly) rs121909332
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.695C>A (p.Ala232Glu) rs121909331
NM_031157.4(HNRNPA1):c.941A>T (p.Asp314Val) rs397518452
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr) rs368751524

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