ClinVar Miner

List of variants reported as likely pathogenic for congenital anomaly of cardiovascular system by Invitae

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 236
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His) rs397516484 0.00005
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_145054.5(CFAP52):c.536+1G>T rs746987839 0.00003
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000218.3(KCNQ1):c.1252-1G>C rs1848628661 0.00001
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser) rs780676796 0.00001
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 0.00001
NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly) rs368011737 0.00001
NM_000218.3(KCNQ1):c.944A>T (p.Tyr315Phe) rs74462309 0.00001
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu) rs199472899 0.00001
NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp) rs199472931 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000890.5(KCNJ5):c.473C>G (p.Thr158Arg) rs145901904 0.00001
NM_001276345.2(TNNT2):c.265A>T (p.Ile89Phe) rs746297911 0.00001
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln) rs754037135 0.00001
NM_001308093.3(GATA4):c.618A>G (p.Val206=) rs1405855570 0.00001
NM_018055.5(NODAL):c.891+1G>A rs878855044 0.00001
NM_033337.3(CAV3):c.169G>A (p.Val57Met) rs116840795 0.00001
NC_000007.13:g.(?_150644396)_(150649961_?)dup
NC_000011.10:g.(?_2587560)_(2587702_?)del
NC_000011.9:g.(?_2549138)_(2610104_?)dup
NC_000011.9:g.(?_2591838)_(2610104_?)dup
NC_000011.9:g.(?_2629548)_(2721238_?)dup
NC_000011.9:g.(?_2790054)_(2799287_?)dup
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] rs281865421
NM_000218.3(KCNQ1):c.1013C>T (p.Ser338Phe) rs199472758
NM_000218.3(KCNQ1):c.1015T>C (p.Phe339Leu)
NM_000218.3(KCNQ1):c.1016T>A (p.Phe339Tyr) rs199472759
NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu) rs2133750942
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly) rs12720459
NM_000218.3(KCNQ1):c.1033-2A>C rs794728523
NM_000218.3(KCNQ1):c.1045T>C (p.Ser349Pro) rs199472764
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp) rs199472765
NM_000218.3(KCNQ1):c.1100A>G (p.Gln367Arg) rs2133754743
NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His) rs199473663
NM_000218.3(KCNQ1):c.1111G>C (p.Ala371Pro) rs199473412
NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu) rs1848577150
NM_000218.3(KCNQ1):c.1120C>T (p.Leu374Phe)
NM_000218.3(KCNQ1):c.1128+2T>A rs2133754863
NM_000218.3(KCNQ1):c.1166C>T (p.Ser389Phe)
NM_000218.3(KCNQ1):c.1252-2A>C rs771458482
NM_000218.3(KCNQ1):c.1515-2_1515-1del rs1564886323
NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys)
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1732+1G>A rs1846719993
NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg) rs120074189
NM_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr) rs794728576
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr) rs147445322
NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser)
NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro) rs199473448
NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr) rs886037906
NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu) rs120074191
NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser)
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.3(KCNQ1):c.386+1G>T rs2133560406
NM_000218.3(KCNQ1):c.386+2T>G
NM_000218.3(KCNQ1):c.387-5T>A rs794728549
NM_000218.3(KCNQ1):c.503G>A (p.Gly168Glu)
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) rs199472697
NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His) rs199473661
NM_000218.3(KCNQ1):c.556G>C (p.Gly186Arg) rs199473398
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro) rs120074178
NM_000218.3(KCNQ1):c.603_604+9del rs794728580
NM_000218.3(KCNQ1):c.605-1G>A rs1564820372
NM_000218.3(KCNQ1):c.605-1G>C rs1564820372
NM_000218.3(KCNQ1):c.612C>G (p.Ile204Met) rs199473455
NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp) rs199473456
NM_000218.3(KCNQ1):c.683+1G>A rs1589957233
NM_000218.3(KCNQ1):c.684-2A>C rs1564820729
NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe) rs199956744
NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu) rs1589957756
NM_000218.3(KCNQ1):c.727C>A (p.Arg243Ser) rs199472713
NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu)
NM_000218.3(KCNQ1):c.742T>C (p.Trp248Arg) rs199473459
NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln) rs199472716
NM_000218.3(KCNQ1):c.780+1G>A rs1564820836
NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys) rs199472722
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro) rs1564821090
NM_000218.3(KCNQ1):c.785T>G (p.Leu262Arg) rs1564821090
NM_000218.3(KCNQ1):c.794C>A (p.Thr265Asn) rs199472724
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg) rs199473460
NM_000218.3(KCNQ1):c.817C>G (p.Leu273Val)
NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro) rs199472727
NM_000218.3(KCNQ1):c.818T>G (p.Leu273Arg) rs199472727
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del) rs397508126
NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp) rs199472730
NM_000218.3(KCNQ1):c.839T>A (p.Val280Glu) rs199473462
NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala)
NM_000218.3(KCNQ1):c.845T>C (p.Leu282Pro) rs199472733
NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro) rs1060500627
NM_000218.3(KCNQ1):c.848C>G (p.Ala283Gly) rs199473463
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser) rs199472738
NM_000218.3(KCNQ1):c.908T>C (p.Leu303Pro) rs199472740
NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu)
NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys)
NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile) rs199472745
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp) rs199472748
NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn) rs1554894448
NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His) rs1554894448
NM_000218.3(KCNQ1):c.946G>A (p.Gly316Arg) rs104894255
NM_000218.3(KCNQ1):c.946G>T (p.Gly316Trp) rs104894255
NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala)
NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala) rs199472750
NM_000218.3(KCNQ1):c.959C>G (p.Pro320Arg)
NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu) rs199473470
NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro) rs199472754
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg) rs199472755
NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp) rs199472756
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000238.4(KCNH2):c.1128+1G>A rs1405113457
NM_000238.4(KCNH2):c.1129-831_3109dup
NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp) rs2116971776
NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu) rs1554426244
NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys) rs199472911
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.1558-1G>C rs2116964889
NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His)
NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu) rs199472919
NM_000238.4(KCNH2):c.167G>A (p.Arg56Gln) rs199472845
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr) rs794728481
NM_000238.4(KCNH2):c.1685A>C (p.His562Pro) rs199472922
NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln) rs199472924
NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys) rs199472926
NM_000238.4(KCNH2):c.1715G>T (p.Gly572Val) rs199473423
NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys) rs199473413
NM_000238.4(KCNH2):c.1745G>T (p.Arg582Leu) rs199473426
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser) rs199472939
NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu) rs2116960647
NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala)
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn) rs199472948
NM_000238.4(KCNH2):c.1868C>T (p.Thr623Ile) rs199472950
NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys) rs41307295
NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys)
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) rs794728442
NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg)
NM_000238.4(KCNH2):c.1946-4_1948del rs1801137678
NM_000238.4(KCNH2):c.2145+1G>A rs886039385
NM_000238.4(KCNH2):c.2146-1G>C
NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA rs1554425320
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu) rs199472986
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro) rs1801084514
NM_000238.4(KCNH2):c.2398+1G>T rs794728391
NM_000238.4(KCNH2):c.2398_2398+21del
NM_000238.4(KCNH2):c.2399-108_2488del rs2116940777
NM_000238.4(KCNH2):c.2399-2A>G
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.2592+1G>A rs1554424772
NM_000238.4(KCNH2):c.2593-1G>C
NM_000238.4(KCNH2):c.308-2A>G rs1057520598
NM_000238.4(KCNH2):c.3152+1G>T rs1057518151
NM_000238.4(KCNH2):c.3153-1G>C
NM_000238.4(KCNH2):c.322T>C (p.Cys108Arg) rs199472859
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs) rs1800857447
NM_000238.4(KCNH2):c.472+1G>A rs794728477
NM_000238.4(KCNH2):c.473-2A>G rs2117007319
NM_000238.4(KCNH2):c.76+1G>A rs2117072529
NM_000238.4(KCNH2):c.76+2T>A rs794728419
NM_000238.4(KCNH2):c.76_76+1del rs1563193513
NM_000238.4(KCNH2):c.77-1G>A rs794728406
NM_000238.4(KCNH2):c.910_916+11del rs1563169296
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp) rs199472884
NM_000238.4(KCNH2):c.917-2A>G rs2116999316
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) rs786205771
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe) rs864622292
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys) rs2074387117
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln) rs104894581
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys) rs199473381
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr) rs104894583
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro) rs199473384
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His) rs199473385
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del) rs2074390325
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys) rs1559655653
NM_001148.6(ANK2):c.11694+1G>T
NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr) rs397516452
NM_001276345.2(TNNT2):c.281G>T (p.Arg94Ile)
NM_001276345.2(TNNT2):c.283G>A (p.Val95Met) rs1659515084
NM_001276345.2(TNNT2):c.286G>A (p.Asp96Asn) rs1553282768
NM_001276345.2(TNNT2):c.290T>A (p.Phe97Tyr)
NM_001276345.2(TNNT2):c.290T>G (p.Phe97Cys)
NM_001276345.2(TNNT2):c.304C>G (p.Arg102Gly)
NM_001276345.2(TNNT2):c.309G>T (p.Lys103Asn) rs778426227
NM_001276345.2(TNNT2):c.324C>A (p.Asp108Glu) rs1553282545
NM_001276345.2(TNNT2):c.341C>A (p.Ala114Glu) rs727504245
NM_001276345.2(TNNT2):c.400A>G (p.Lys134Glu)
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) rs397516464
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) rs45525839
NM_001276345.2(TNNT2):c.445C>G (p.Arg149Gly)
NM_001276345.2(TNNT2):c.502C>G (p.Arg168Gly) rs730881103
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly) rs727503512
NM_001276345.2(TNNT2):c.565T>G (p.Ser189Ala) rs377157235
NM_001276345.2(TNNT2):c.617G>T (p.Arg206Leu)
NM_001276345.2(TNNT2):c.638C>A (p.Thr213Asn) rs397516476
NM_001276345.2(TNNT2):c.638C>G (p.Thr213Ser) rs397516476
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) rs863225119
NM_001276345.2(TNNT2):c.886C>A (p.Arg296Ser) rs367785431
NM_001308093.3(GATA4):c.191G>A (p.Gly64Glu)
NM_001308093.3(GATA4):c.879C>G (p.Cys293Trp) rs2130313407
NM_001743.6(CALM2):c.268T>C (p.Phe90Leu)
NM_001743.6(CALM2):c.328A>T (p.Met110Leu) rs1553431711
NM_001743.6(CALM2):c.389A>G (p.Asp130Gly) rs1573214163
NM_001743.6(CALM2):c.397G>A (p.Gly133Ser) rs2103823599
NM_001743.6(CALM2):c.423G>C (p.Glu141Asp) rs2103821507
NM_001743.6(CALM2):c.434T>G (p.Met145Arg) rs1558693760
NM_004387.4(NKX2-5):c.433T>C (p.Phe145Leu) rs2113901956
NM_004387.4(NKX2-5):c.457C>G (p.Leu153Val)
NM_004387.4(NKX2-5):c.458T>C (p.Leu153Pro) rs2113901873
NM_004387.4(NKX2-5):c.668del (p.Leu223fs) rs1581108237
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.804C>G (p.Tyr268Ter) rs1761346424
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr) rs2140432240
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys) rs2140430561
NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)
NM_005184.4(CALM3):c.422A>G (p.Glu141Gly) rs1555814427
NM_006888.6(CALM1):c.398G>A (p.Gly133Glu) rs1555366045
NM_015335.5(MED13L):c.1176-1G>A rs1566010195
NM_015335.5(MED13L):c.3935-1G>A rs1565995146
NM_015335.5(MED13L):c.4955+1G>A
NM_015335.5(MED13L):c.5175+1G>A
NM_018055.5(NODAL):c.891+2T>A rs1564667078
NM_033337.3(CAV3):c.294C>A (p.Cys98Ter) rs200202503
NM_033337.3(CAV3):c.80G>C (p.Arg27Pro) rs116840778

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.