ClinVar Miner

List of variants reported as benign by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_001035.3(RYR2):c.14655+22T>C rs147311361 0.00608
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_001276345.2(TNNT2):c.68-5C>T rs540630390 0.00133
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu) rs200415625 0.00031
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) rs199473648 0.00025
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862

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