ClinVar Miner

List of variants reported for Primary dilated cardiomyopathy by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe) rs758054052 0.00004
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile) rs763955552 0.00003
NM_000257.4(MYH7):c.3634C>T (p.Arg1212Trp) rs1555337102
NM_000335.5(SCN5A):c.589G>T (p.Asp197Tyr) rs1553605667
NM_000363.5(TNNI3):c.496T>C (p.Ser166Pro) rs1599909123
NM_000363.5(TNNI3):c.538G>A (p.Asp180Asn) rs1060503103
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr) rs1114167331
NM_001267550.2(TTN):c.68225-1G>C rs1575854773
NM_001927.4(DES):c.376G>A (p.Val126Met) rs876657770
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.7308T>A (p.Asp2436Glu) rs1581823824
NM_032578.4(MYPN):c.1600+4A>G rs1589577356

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