ClinVar Miner

List of variants reported as pathogenic for Renal cell carcinoma, papillary, 1 by OMIM

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Total variants: 9
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HGVS dbSNP
ATM, IVS61DS, 2-BP INS, +2TA
NM_000551.3(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_001127500.3(MET):c.3335A>G (p.His1112Arg) rs121913243
NM_001127500.3(MET):c.3446T>C (p.Met1149Thr) rs121913668
NM_001127500.3(MET):c.3616G>T (p.Val1206Leu) rs121913669
NM_001127500.3(MET):c.3637C>G (p.Leu1213Val) rs121913673
NM_001127500.3(MET):c.3712G>A (p.Val1238Ile) rs121913670
NM_001127500.3(MET):c.3736G>A (p.Asp1246Asn) rs121913671
NM_001127500.3(MET):c.3743A>G (p.Tyr1248Cys) rs121913246

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