ClinVar Miner

List of variants in gene RBM20 reported as uncertain significance by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) rs183770014 0.00011
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) rs397516622 0.00011
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys) rs757389650 0.00008
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) rs372567331 0.00005
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val) rs754805893 0.00004
NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) rs794729148 0.00003
NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys) rs397516598 0.00001
NM_001134363.3(RBM20):c.3452G>C (p.Gly1151Ala) rs1185476843 0.00001
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val) rs397516618 0.00001
NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg) rs794729153
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met) rs372370653
NM_001134363.3(RBM20):c.3245T>C (p.Leu1082Pro) rs878854252

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