ClinVar Miner

List of variants reported as uncertain significance for Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Arthrogryposis, distal, IIa 11 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00029
NM_000245.4(MET):c.1132G>A (p.Val378Ile) rs749738523 0.00004
NM_000245.4(MET):c.1510G>T (p.Val504Phe) rs587780735 0.00003
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln) rs752694306 0.00002
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) rs369838973 0.00001
NM_000245.4(MET):c.617T>C (p.Phe206Ser) rs746295363 0.00001
NM_000245.4(MET):c.2074A>G (p.Ile692Val) rs2116924929
NM_000245.4(MET):c.3688T>C (p.Tyr1230His) rs121913247
NM_000245.4(MET):c.934G>A (p.Glu312Lys)

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