ClinVar Miner

List of variants reported as pathogenic for Dilated cardiomyopathy 1DD

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter) rs794729150 0.00002
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
GRCh37/hg19 10q25.2(chr10:112516278-112591134)
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1907G>T (p.Arg636Leu)
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys) rs1564664312
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607

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