ClinVar Miner

List of variants reported as benign for Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Arthrogryposis, distal, IIa 11

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.144G>A (p.Ala48=) rs11762213 0.03399
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000245.4(MET):c.654G>A (p.Arg218=) rs35284565 0.00153

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