ClinVar Miner

List of variants reported for Conduction disorder of the heart by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp) rs66785829 0.00200
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro) rs201693280 0.00017
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys) rs748937055 0.00007
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492 0.00006
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) rs372567331 0.00005
NM_002230.4(JUP):c.412G>A (p.Glu138Lys) rs150245906 0.00005
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013 0.00004
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00003
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_001148.6(ANK2):c.2735A>G (p.His912Arg) rs139259028 0.00002
NM_001943.5(DSG2):c.2623A>G (p.Met875Val) rs370316475 0.00002
NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr) rs767728159 0.00001
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu) rs750159744 0.00001
NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro) rs1589884210
NM_000256.3(MYBPC3):c.20A>C (p.Lys7Thr) rs1595851193
NM_000257.4(MYH7):c.345+1G>A rs112907315
NM_000257.4(MYH7):c.4543C>G (p.Gln1515Glu) rs1892239000
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr) rs1595073523
NM_000335.5(SCN5A):c.5894C>G (p.Ser1965Cys) rs1575703249
NM_000719.7(CACNA1C):c.32del (p.Pro11fs) rs2052999161
NM_001035.3(RYR2):c.243G>A (p.Met81Ile) rs1572627115
NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn) rs1688456281
NM_001148.6(ANK2):c.9245C>T (p.Thr3082Ile) rs770289485
NM_001267550.2(TTN):c.61447_61449del (p.Arg20483del) rs775343508
NM_001458.5(FLNC):c.5685del (p.Val1896fs) rs1808809268
NM_002471.4(MYH6):c.4060G>A (p.Glu1354Lys) rs1595052281
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn) rs878854502
NM_004006.3(DMD):c.1603G>A (p.Val535Ile) rs2052711854
NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs) rs1064793435

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