ClinVar Miner

List of variants reported as pathogenic by Stanford Center for Inherited Cardiovascular Disease, Stanford University

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Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) rs199472709 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys) rs199472678 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990 0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538 0.00001
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) rs794728403 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) rs121913631 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) rs121964856 0.00001
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) rs121434526 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000117.3(EMD):c.153dup (p.Ser52fs) rs876661345
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter) rs1060500629
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs) rs397508087
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.176del (p.Pro59fs) rs1565023136
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.528G>A (p.Trp176Ter) rs876661350
NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg) rs104894252
NM_000218.3(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) rs397515926
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter) rs397515965
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.410C>G (p.Ser137Ter) rs730880703
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter) rs727503211
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.337dup (p.Glu113fs) rs752191968
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_000642.3(AGL):c.1102del (p.Glu368fs) rs1553185403
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.68del (p.Gly23fs) rs1555149975
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) rs199476317
NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) rs1064792934
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.305G>T (p.Arg102Leu) rs121964856
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) rs121964858
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002667.5(PLN):c.25C>T (p.Arg9Cys) rs111033559
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_004006.3(DMD):c.1718del (p.Ala573fs) rs1569229528
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004387.4(NKX2-5):c.334+1G>T rs876661380
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_005902.4(SMAD3):c.427_431del (p.His143fs) rs1060500773
NM_005902.4(SMAD3):c.990dup (p.Val331fs) rs863223754
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.348dup (p.Lys117fs) rs267607646
NM_170707.4(LMNA):c.949G>T (p.Glu317Ter) rs56816490
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.4(LMNA):c.967_968del (p.Leu323fs) rs876661352

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