ClinVar Miner

List of variants studied for cardiac conduction defect

Included ClinVar conditions (6):
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ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp) rs66785829 0.00200
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
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.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys) rs112122950 0.00034
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_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 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_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294 0.00009
NM_001276345.2(TNNT2):c.720-4G>T rs201753429 0.00009
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_017636.4(TRPM4):c.1826C>G (p.Ala609Gly) rs547541099 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_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 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_000257.4(MYH7):c.3853+1G>A rs202031879 0.00002
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389 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_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_003803.4(MYOM1):c.3190C>T (p.His1064Tyr) rs755409090 0.00002
NM_000218.3(KCNQ1):c.1449C>A (p.Asn483Lys) rs1849966701 0.00001
NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr) rs767728159 0.00001
NM_001148.6(ANK2):c.9173G>A (p.Arg3058His) rs730880048 0.00001
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu) rs750159744 0.00001
NC_012920.1(MT-TT):m.15923A>G rs1556424691
NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro) rs1589884210
NM_000238.4(KCNH2):c.239C>T (p.Ala80Val) rs199473493
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_000719.7(CACNA1C):c.5626A>G (p.Lys1876Glu) rs869025368
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744
NM_001035.3(RYR2):c.14650A>G (p.Met4884Val) rs1553341966
NM_001035.3(RYR2):c.243G>A (p.Met81Ile) rs1572627115
NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn) rs1688456281
NM_001040151.2(SCN3B):c.587C>G (p.Ser196Cys) rs777776827
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_001943.5(DSG2):c.2979G>T (p.Gln993His) rs565904909
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
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) rs1057518920
NM_005477.3(HCN4):c.1928T>G (p.Leu643Arg) rs1555475541
NM_006393.3(NEBL):c.2616G>T (p.Lys872Asn) rs869025491
NM_007202.4(AKAP10):c.1467+5C>A
NM_130797.4(DPP6):c.674C>T (p.Pro225Leu) rs869025384

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