ClinVar Miner

List of variants studied for congenital anomaly of cardiovascular system by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) rs150576530 0.00054
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385 0.00011
NM_000238.4(KCNH2):c.2681G>A (p.Arg894His) rs199473668 0.00010
NM_005751.5(AKAP9):c.5035C>T (p.Arg1679Cys) rs200044616 0.00010
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000890.5(KCNJ5):c.1151C>G (p.Pro384Arg) rs148307402 0.00009
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634 0.00008
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671 0.00007
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392 0.00007
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys) rs202067116 0.00007
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000335.5(SCN5A):c.880G>A (p.Val294Met) rs199473086 0.00004
NM_172201.2(KCNE2):c.67A>T (p.Met23Leu) rs747045005 0.00004
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586 0.00003
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796 0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813 0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His) rs199473465 0.00002
NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys) rs199473640 0.00002
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851 0.00002
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) rs368700869 0.00002
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His) rs200941579 0.00002
NM_000890.5(KCNJ5):c.864G>T (p.Glu288Asp) rs771919907 0.00002
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu) rs759134380 0.00001
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438 0.00001
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) rs199473534 0.00001
NM_000238.4(KCNH2):c.2893G>A (p.Gly965Arg) rs199473015 0.00001
NM_000335.5(SCN5A):c.1298G>A (p.Arg433His) rs879035421 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) rs773930851 0.00001
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala) rs375846068 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_001148.6(ANK2):c.6875G>A (p.Arg2292Gln) rs1350377647 0.00001
NM_003098.3(SNTA1):c.1339C>T (p.Arg447Ter) rs1187536758 0.00001
NM_003098.3(SNTA1):c.375G>C (p.Gln125His) rs201421292 0.00001
NM_005751.5(AKAP9):c.6439G>C (p.Glu2147Gln) rs373725997 0.00001
NM_033337.3(CAV3):c.89A>G (p.Lys30Arg) rs753431407 0.00001
NM_174934.4(SCN4B):c.298C>T (p.Arg100Cys) rs149497652 0.00001
NM_174934.4(SCN4B):c.61+1G>A rs377558816 0.00001
NC_000011.10:g.(2662082_2768843)_(2778038_2847766)del
NC_000011.9:g.(2683312_2790073)_(2799268_2868996)dup
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu) rs775362401
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs) rs397508077
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.1325del (p.His442fs) rs1135401944
NM_000218.3(KCNQ1):c.1541T>C (p.Ile514Thr) rs199472786
NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs) rs1846542419
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly) rs17215500
NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs) rs1554920580
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1685+2T>C rs1590081467
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.1709C>T (p.Pro570Leu) rs1590082242
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) rs199472814
NM_000218.3(KCNQ1):c.1996A>C (p.Thr666Pro) rs1564916586
NM_000218.3(KCNQ1):c.321G>T (p.Gln107His) rs1554958092
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.3(KCNQ1):c.523C>T (p.Leu175Phe) rs1131692322
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.604+2T>C rs1848322089
NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro) rs794728512
NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro) rs199472716
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro) rs199472720
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro) rs1564821090
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del) rs397508126
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala) rs199472754
NM_000218.3(KCNQ1):c.965C>A (p.Thr322Lys) rs199472755
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del) rs1568836457
NM_000219.6(KCNE1):c.335A>G (p.His112Arg) rs1352531511
NM_000238.4(KCNH2):c.1102del (p.His368fs) rs1584863723
NM_000238.4(KCNH2):c.1139del (p.Leu380fs) rs1563161538
NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter) rs199472892
NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg) rs199472893
NM_000238.4(KCNH2):c.1342G>T (p.Ala448Ser) rs767723985
NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala) rs1584856497
NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys) rs794728409
NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val) rs1801214475
NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe) rs199472840
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter) rs1563156868
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) rs794728442
NM_000238.4(KCNH2):c.1918T>C (p.Phe640Leu) rs199473529
NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu) rs199472974
NM_000238.4(KCNH2):c.1967del (p.Phe656fs) rs1801136696
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.4(KCNH2):c.232_250del (p.Ala78fs) rs1584883087
NM_000238.4(KCNH2):c.2398+2T>A rs1563152963
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.2456del (p.Asn819fs) rs794728446
NM_000238.4(KCNH2):c.2616dup (p.Gly873fs) rs1584847173
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs) rs1385959174
NM_000238.4(KCNH2):c.2705del (p.Pro902fs) rs1563148264
NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs) rs2116933757
NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer)
NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs) rs1131692327
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000238.4(KCNH2):c.3017del (p.Gly1006fs) rs794728504
NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs) rs1584843078
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs) rs1584843033
NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter) rs1554423863
NM_000238.4(KCNH2):c.453del (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.566G>T (p.Gly189Val) rs1584866229
NM_000238.4(KCNH2):c.678del (p.Ala228fs) rs794728496
NM_000238.4(KCNH2):c.863T>C (p.Ile288Thr) rs1563169608
NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn) rs199472833
NM_000238.4(KCNH2):c.95C>T (p.Ala32Val) rs1801941580
NM_000257.4(MYH7):c.5105C>A (p.Ala1702Glu)
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.2078G>T (p.Arg693Leu) rs373087176
NM_000335.5(SCN5A):c.2437-7T>C rs1012068196
NM_000335.5(SCN5A):c.2643G>T (p.Met881Ile) rs1559756973
NM_000335.5(SCN5A):c.3304T>G (p.Ser1102Ala) rs1575757097
NM_000335.5(SCN5A):c.4390T>C (p.Phe1464Leu) rs1559728884
NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys) rs199473259
NM_000335.5(SCN5A):c.4502G>A (p.Gly1501Asp) rs1230010586
NM_000335.5(SCN5A):c.4598T>G (p.Ile1533Ser) rs1575712112
NM_000335.5(SCN5A):c.4787T>C (p.Val1596Ala)
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu) rs137854600
NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu) rs199473310
NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro) rs199473315
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1412C>A (p.Thr471Asn) rs1599718556
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys) rs1057524804
NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys) rs1057524804
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro) rs560163331
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.3812T>C (p.Ile1271Thr) rs2078042038
NM_000719.7(CACNA1C):c.4254G>A (p.Trp1418Ter) rs1131692329
NM_000719.7(CACNA1C):c.5485GAG[1] (p.Glu1830del) rs1603457578
NM_000891.3(KCNJ2):c.1196G>C (p.Ser399Thr) rs1598211624
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.388A>G (p.Thr130Ala) rs1555603936
NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala) rs199473382
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.794C>T (p.Ser265Phe) rs1598211406
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys) rs199473389
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_001406838.1(KCNQ1):c.478-12807del rs1848316236
NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys) rs1567511932
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn) rs398124650
NM_002471.4(MYH6):c.2878G>A (p.Glu960Lys) rs1595056419
NM_003098.3(SNTA1):c.194A>G (p.Asn65Ser) rs1135401951
NM_003413.4(ZIC3):c.764G>C (p.Trp255Ser) rs886041111
NM_004387.4(NKX2-5):c.469T>G (p.Phe157Val)
NM_033337.3(CAV3):c.446AGG[1] (p.Glu150del) rs1027684031
NM_172201.2(KCNE2):c.294C>G (p.Ser98Arg) rs1196937368
NM_174934.4(SCN4B):c.613T>C (p.Ser205Pro) rs761183228

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