ClinVar Miner

List of variants reported as uncertain significance for Cardiomyopathy by Laboratory of Genetics and Molecular Cardiology, University of São Paulo

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) rs397516608 0.00010
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.3664G>C (p.Ala1222Pro) rs863225118
NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys) rs863225116
NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser) rs386707192

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