ClinVar Miner

List of variants in gene RBM20 studied for Hypertrophic cardiomyopathy

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.3452-10C>T rs60618533 0.00369
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val) rs397516602 0.00002
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del) rs765389992
NM_001134363.3(RBM20):c.523A>C (p.Ser175Arg) rs553309602

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