ClinVar Miner

List of variants reported as likely pathogenic for not provided by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_001134363.3(RBM20):c.1338-1G>T rs1265727354 0.00002
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 0.00001
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022 0.00001
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe) rs772258197 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.625T>G (p.Cys209Gly) rs1600711065 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_000138.5(FBN1):c.2114-2A>G rs886041440
NM_000138.5(FBN1):c.2920dup (p.Arg974fs) rs1555398825
NM_000138.5(FBN1):c.5016T>G (p.Cys1672Trp) rs1555396848
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro) rs1589931156
NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs) rs1554427936
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1622dup (p.Glu542fs) rs1555122143
NM_000256.3(MYBPC3):c.1625-2A>G rs112917345
NM_000256.3(MYBPC3):c.2190del (p.Lys731fs) rs1555121467
NM_000256.3(MYBPC3):c.2994G>A (p.Gln998=) rs1555120639
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.3592G>T (p.Asp1198Tyr) rs730880778
NM_000257.4(MYH7):c.646C>G (p.Leu216Val) rs772488436
NM_000335.5(SCN5A):c.1A>T (p.Met1Leu) rs1553607722
NM_000335.5(SCN5A):c.3954_3960+1dup rs2061267874
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000384.3(APOB):c.149G>A (p.Arg50Gln) rs1465696669
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter) rs2077524952
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg) rs786205776
NM_001103.4(ACTN2):c.1793del (p.Pro598fs) rs1553303871
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs) rs779549899
NM_001267550.2(TTN):c.40621A>T (p.Lys13541Ter) rs869238992
NM_001267550.2(TTN):c.66770-2A>C rs1553624468
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_004415.4(DSP):c.2630+1del rs1554107651
NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln) rs1555418785
NM_005902.4(SMAD3):c.1229_1244del (p.Val410fs) rs1555414495
NM_005902.4(SMAD3):c.648del (p.His216fs) rs1555412629
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) rs1555637555

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