ClinVar Miner

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

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 801
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HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu) rs147211854 0.00031
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr) rs374016704 0.00028
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) rs137955225 0.00026
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met) rs199472706 0.00011
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) rs752200396 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124 0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 0.00008
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln) rs1344172059 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys) rs74315449 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His) rs397516484 0.00005
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) rs762981322 0.00004
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) rs397516450 0.00004
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu) rs1269517446 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000257.4(MYH7):c.1000-1G>A rs113392527 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) rs773204795 0.00003
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_172201.2(KCNE2):c.347C>T (p.Ala116Val) rs199473367 0.00003
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 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.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met) rs1057518968 0.00002
NM_031307.4(PUS3):c.838C>T (p.Arg280Ter) rs374443634 0.00002
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000218.3(KCNQ1):c.1032+1G>A rs397508070 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1252-1G>C rs1848628661 0.00001
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln) rs574321120 0.00001
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser) rs780676796 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg) rs1337409061 0.00001
NM_000218.3(KCNQ1):c.386+16231G>A rs1490391959 0.00001
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) rs17215479 0.00001
NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly) rs368011737 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp) rs199472726 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000218.3(KCNQ1):c.944A>T (p.Tyr315Phe) rs74462309 0.00001
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu) rs759134380 0.00001
NM_000238.4(KCNH2):c.1128+1810C>T rs972201049 0.00001
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu) rs199472899 0.00001
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu) rs199472902 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 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_000238.4(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) rs199473534 0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.4823G>A (p.Arg1608His) rs587779391 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln) rs199473623 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000890.5(KCNJ5):c.473C>G (p.Thr158Arg) rs145901904 0.00001
NM_000891.3(KCNJ2):c.637C>T (p.Arg213Ter) rs764523123 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter) rs587777422 0.00001
NM_001148.6(ANK2):c.10858T>A (p.Trp3620Arg) rs199473346 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001271874.2(AAR2):c.520G>A (p.Val174Met) rs746800707 0.00001
NM_001276345.2(TNNT2):c.265A>T (p.Ile89Phe) rs746297911 0.00001
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455 0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) rs121964856 0.00001
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln) rs754037135 0.00001
NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter) rs397516469 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001308093.3(GATA4):c.618A>G (p.Val206=) rs1405855570 0.00001
NM_001386795.1(DTNA):c.1692G>C (p.Glu564Asp) rs1477078144 0.00001
NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter) rs1017845770 0.00001
NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter) rs1431830142 0.00001
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val) rs121434500 0.00001
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674 0.00001
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163 0.00001
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile) rs775083333 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_018055.5(NODAL):c.891+1G>A rs878855044 0.00001
NM_031307.4(PUS3):c.340T>C (p.Cys114Arg) rs752052349 0.00001
NM_033337.3(CAV3):c.169G>A (p.Val57Met) rs116840795 0.00001
NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser) rs886037834 0.00001
NM_138295.5(PKD1L1):c.5086_5087del (p.Lys1696fs) rs867742191 0.00001
NM_138295.5(PKD1L1):c.6396G>A (p.Trp2132Ter) rs765720584 0.00001
NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly) rs886037751 0.00001
NM_147191.1(MMP21):c.281G>C (p.Arg94Pro) rs912256328 0.00001
NM_207396.3(RNF207):c.1109+1G>A rs552508881 0.00001
46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn
46;XX;inv(7)(q21.2q34)
46;XY;inv(10)(q21.2q22.3)pat
46;XY;t(2;14)(p22;q24.3)dn
46;XY;t(3;5)(q23;q13)dn
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)
GRCh37/hg19 15q26.2(chr15:96878571-96880063)x1
GRCh37/hg19 3p12.3(chr3:78653578-79071345)x1
NC_000007.13:g.(?_150644396)_(150649961_?)dup
NC_000011.10:g.(?_2587560)_(2587702_?)del
NC_000011.9:g.(2683312_2790073)_(2799268_2868996)dup
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
NC_012920.1:m.6887_6888insGGG rs1569484120
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] rs281865421
NM_000069.3(CACNA1S):c.5244del (p.Ser1749fs)
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.1016T>C (p.Phe339Ser) rs199472759
NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu) rs2133750942
NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu)
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly) rs12720459
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.3(KCNQ1):c.1032+1_1129-1del
NM_000218.3(KCNQ1):c.1032+2T>C rs1848538318
NM_000218.3(KCNQ1):c.1032+5G>A rs397508071
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=) rs1800171
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.1049G>T (p.Gly350Val) rs794728524
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu) rs779383393
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.1100A>G (p.Gln367Arg) rs2133754743
NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His) rs199473663
NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu) rs775362401
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.1118C>A (p.Ser373Ter)
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.1214_1215del (p.Leu405fs) rs1848613169
NM_000218.3(KCNQ1):c.1252-2A>C rs771458482
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1278del (p.Asp426fs) rs1848629484
NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter)
NM_000218.3(KCNQ1):c.1487del (p.Leu496fs)
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1515-2_1515-1del rs1564886323
NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter) rs794728530
NM_000218.3(KCNQ1):c.1524del (p.Glu508fs) rs1564886349
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly) rs17215500
NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys)
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu)
NM_000218.3(KCNQ1):c.1591-1G>A rs1590081328
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1685+2T>G rs1590081467
NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met) rs199472802
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.1686-9T>C rs1846716158
NM_000218.3(KCNQ1):c.1686del rs794728562
NM_000218.3(KCNQ1):c.1691A>G (p.Asp564Gly) rs1554920808
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
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.1762A>T (p.Ile588Phe) rs794728536
NM_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr) rs794728576
NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu) rs199472814
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.3(KCNQ1):c.1794+1G>A
NM_000218.3(KCNQ1):c.1794+2_1794+5del rs1846743506
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr) rs147445322
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.248del (p.Pro83fs)
NM_000218.3(KCNQ1):c.321G>T (p.Gln107His) rs1554958092
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.349C>T (p.Pro117Ser) 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.364dup (p.Cys122fs) rs397508109
NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn) rs794728578
NM_000218.3(KCNQ1):c.386+1G>T rs2133560406
NM_000218.3(KCNQ1):c.386+2T>G
NM_000218.3(KCNQ1):c.387-1G>C
NM_000218.3(KCNQ1):c.387-5T>A rs794728549
NM_000218.3(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.3(KCNQ1):c.425del (p.Leu142fs) rs794728566
NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro) rs1589931156
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.503G>A (p.Gly168Glu)
NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg) rs199472693
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs)
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) rs199472697
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg)
NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His) rs199473661
NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer) rs1848319796
NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser) rs199473398
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.568C>T (p.Arg190Trp) rs199473662
NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro) rs120074178
NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly) rs199473442
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.605-2A>G rs2133728692
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.683+2T>G rs796052166
NM_000218.3(KCNQ1):c.684-2A>C rs1564820729
NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe) rs199956744
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712
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.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs) rs2133730742
NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro) rs199472720
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>A (p.Leu262Gln)
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>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg) rs199473460
NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile)
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.826del (p.Ser276fs) rs786204778
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.910T>G (p.Trp304Gly)
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.932C>T (p.Thr311Ile) rs199472746
NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser) rs1554894445
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.944A>G (p.Tyr315Cys) rs74462309
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.958C>T (p.Pro320Ser) rs199472753
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>A (p.Thr322Lys) rs199472755
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg) rs199472755
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp) rs199472756
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) rs397508134
NM_000219.6(KCNE1):c.106dup (p.Arg36fs)
NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del) rs1568836457
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000219.6(KCNE1):c.31_118del (p.Pro11fs) rs1981025573
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter) rs1801410644
NM_000238.4(KCNH2):c.1093del (p.Glu365fs)
NM_000238.4(KCNH2):c.1128+1G>A rs1405113457
NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC rs2116997026
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.4(KCNH2):c.1129-831_3109dup
NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg) rs199472893
NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys) rs199472897
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.139G>T (p.Gly47Cys) rs794728409
NM_000238.4(KCNH2):c.1402dup (p.Leu468fs) rs869025448
NM_000238.4(KCNH2):c.1415G>A (p.Arg472His)
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.1478A>G (p.Tyr493Cys) rs199472911
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.1558-1G>C rs2116964889
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro) rs1801182500
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.1694C>G (p.Ala565Gly)
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.1754G>A (p.Trp585Ter)
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.1814C>T (p.Pro605Leu) rs199472938
NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu) rs2116960647
NM_000238.4(KCNH2):c.1831T>G (p.Tyr611Asp) rs199472942
NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala)
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.1843C>G (p.Leu615Val) rs199472945
NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
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.1874T>C (p.Val625Ala) rs199472951
NM_000238.4(KCNH2):c.1876G>A (p.Gly626Ser) rs199472953
NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys) rs41307295
NM_000238.4(KCNH2):c.1888G>C (p.Val630Leu) rs199472958
NM_000238.4(KCNH2):c.1900A>G (p.Thr634Ala) rs794728377
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.1952T>G (p.Met651Arg) rs1554425569
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.4(KCNH2):c.197G>A (p.Cys66Tyr) rs1554430943
NM_000238.4(KCNH2):c.1983del (p.Ile662fs) rs1584852351
NM_000238.4(KCNH2):c.2145+1G>A rs886039385
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000238.4(KCNH2):c.2146-1G>C
NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA rs1554425320
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
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+5G>A
NM_000238.4(KCNH2):c.2398+5G>T rs1554425149
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.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr) rs1563189895
NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn) rs199473005
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.4(KCNH2):c.2592+1G>A rs1554424772
NM_000238.4(KCNH2):c.2593-1G>C
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs) rs1131692183
NM_000238.4(KCNH2):c.2676del (p.Arg893fs) rs1801005389
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs) rs864622174
NM_000238.4(KCNH2):c.307+2T>A rs796052196
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.3257_3258insG (p.Gly1087fs)
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs) rs1800857447
NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter) rs2117011952
NM_000238.4(KCNH2):c.472+1G>A rs794728477
NM_000238.4(KCNH2):c.473-2A>G rs2117007319
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
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.774dup (p.Asp259fs) rs869025447
NM_000238.4(KCNH2):c.80del (p.Arg27fs) rs2117063981
NM_000238.4(KCNH2):c.842dup (p.Ala282fs) rs730880374
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_000238.4(KCNH2):c.92T>A (p.Ile31Asn) rs199472833
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_000256.3(MYBPC3):c.121dup (p.Arg41fs) rs1248588905
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.1927+600C>T rs1595845204
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs) rs727503192
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg) rs1338707268
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg) rs1595843553
NM_000256.3(MYBPC3):c.2711_2737del (p.Tyr904_Gly912del) rs2095881732
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.407-1G>A rs185449721
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs) rs1595850762
NM_000256.3(MYBPC3):c.839_840del (p.Gly280fs)
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) rs730880684
NM_000257.4(MYH7):c.1021T>A (p.Phe341Ile) rs2138677574
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) rs727504753
NM_000257.4(MYH7):c.1189A>G (p.Lys397Glu) rs1566535410
NM_000257.4(MYH7):c.1311C>A (p.Asn437Lys) rs1595086845
NM_000257.4(MYH7):c.1405G>T (p.Asp469Tyr) rs397516106
NM_000257.4(MYH7):c.1423C>A (p.Gln475Lys) rs1566534775
NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) rs863224900
NM_000257.4(MYH7):c.1559G>T (p.Cys520Phe) rs1892789510
NM_000257.4(MYH7):c.1858_1859del (p.Leu620fs) rs1566533919
NM_000257.4(MYH7):c.1998T>A (p.His666Gln)
NM_000257.4(MYH7):c.2086A>C (p.Asn696His)
NM_000257.4(MYH7):c.2114G>A (p.Cys705Tyr) rs1555337916
NM_000257.4(MYH7):c.2171T>A (p.Ile724Asn) rs397516136
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2642T>G (p.Leu881Arg) rs1566531303
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys) rs730880759
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) rs397516190
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) rs727503249
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.514C>G (p.Gln172Glu) rs2138683978
NM_000257.4(MYH7):c.5390T>C (p.Leu1797Pro) rs1114167322
NM_000257.4(MYH7):c.640-2A>T rs2138681961
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.732+1del rs397516266
NM_000257.4(MYH7):c.732+2T>G rs1555338658
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.2335del (p.Gln779fs) rs2061687300
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.3388-1G>C
NM_000335.5(SCN5A):c.3509-1G>C rs1553698563
NM_000335.5(SCN5A):c.3944G>T (p.Arg1315Leu) rs765907469
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys) rs199473259
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000335.5(SCN5A):c.483-1G>A rs794728846
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.4996G>A (p.Val1666Ile) rs199473293
NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)
NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro) rs199473315
NM_000459.5(TEK):c.3314_3315delinsTGACCT (p.Thr1105fs) rs2131267739
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter) rs1555672574
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) rs1467561684
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) rs786205771
NM_000719.7(CACNA1C):c.2451del (p.Ala818fs) rs2153231721
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg) rs1057518301
NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val)
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala) rs2099444326
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His) rs199473369
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.461G>A (p.Cys154Tyr) rs199473380
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.598G>A (p.Val200Met)
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr) rs104894583
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
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.896A>G (p.Glu299Gly) rs786205817
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del) rs2074390325
NM_001005242.3(PKP2):c.1903C>T (p.His635Tyr) rs757922359
NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs) rs786204395
NM_001012426.2(FOXP4):c.815del (p.Leu272fs) rs1114167294
NM_001018005.2(TPM1):c.114+2T>C rs1114167357
NM_001018005.2(TPM1):c.256G>A (p.Ala86Thr) rs2034911718
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys) rs727504313
NM_001018005.2(TPM1):c.388A>G (p.Ile130Val) rs1114167355
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001018005.2(TPM1):c.519G>C (p.Glu173Asp) rs886037905
NM_001018005.2(TPM1):c.598G>C (p.Val200Leu) rs2140963813
NM_001018005.2(TPM1):c.686C>T (p.Ser229Phe) rs1114167356
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter) rs766692577
NM_001080517.3(SETD5):c.2182del (p.Asp728fs) rs2125288982
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys) rs1559655653
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) rs398123614
NM_001127392.3(MYRF):c.1160T>C (p.Phe387Ser) rs2066302424
NM_001127392.3(MYRF):c.1209G>C (p.Gln403His) rs1027079885
NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg) rs1565295550
NM_001127392.3(MYRF):c.1435C>G (p.Leu479Val) rs2066382188
NM_001127392.3(MYRF):c.1786C>T (p.Gln596Ter) rs762143393
NM_001127392.3(MYRF):c.1904-1G>A rs2066445430
NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala) rs2066476390
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) rs1382225004
NM_001127392.3(MYRF):c.239dup (p.Gly81fs) rs2066051319
NM_001134363.3(RBM20):c.1904C>G (p.Ser635Cys) rs1114167331
NM_001136271.3(NKX2-6):c.455dup (p.Gln153fs) rs757292066
NM_001136271.3(NKX2-6):c.568C>T (p.Gln190Ter)
NM_001148.6(ANK2):c.11694+1G>T
NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile) rs786205420
NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter) rs2092061253
NM_001148.6(ANK2):c.4876A>G (p.Lys1626Glu) rs755287627
NM_001148.6(ANK2):c.6149T>C (p.Ile2050Thr) rs796052197
NM_001148.6(ANK2):c.8123T>C (p.Val2708Ala) rs796052198
NM_001166175.2(NKX2-5):c.*353_*355delinsAT rs397516908
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001267550.2(TTN):c.12438_12448del (p.Ser4147fs) rs1553939749
NM_001267550.2(TTN):c.42909_42910del (p.Cys14303fs) rs1114167333
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.54768del (p.Ser18258fs) rs1114167335
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter) rs1114167324
NM_001267550.2(TTN):c.65035_65036del (p.Ala21679fs) rs1114167323
NM_001267550.2(TTN):c.75727G>T (p.Glu25243Ter) rs1114167338
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356
NM_001270974.2(HYDIN):c.10816G>T (p.Gly3606Ter) rs1567744830
NM_001276345.2(TNNT2):c.274G>A (p.Gly92Arg) rs727504255
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.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
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.375del (p.Glu126fs) rs560019679
NM_001276345.2(TNNT2):c.400A>G (p.Lys134Glu)
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) rs397516464
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) rs45525839
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) rs45525839
NM_001276345.2(TNNT2):c.433del (p.Ala145fs)
NM_001276345.2(TNNT2):c.445C>G (p.Arg149Gly)
NM_001276345.2(TNNT2):c.502C>G (p.Arg168Gly) rs730881103
NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln) rs45501500
NM_001276345.2(TNNT2):c.508GAG[5] (p.Glu173dup) rs397516470
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys) rs1558225569
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly) rs727503512
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.565T>G (p.Ser189Ala) rs377157235
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp) rs730881106
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.644G>C (p.Arg215Pro) rs121964860
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001276345.2(TNNT2):c.68-2A>G
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) rs863225119
NM_001276345.2(TNNT2):c.851+1G>A rs111377893
NM_001276345.2(TNNT2):c.851+1G>T rs111377893
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001276345.2(TNNT2):c.886C>A (p.Arg296Ser) rs367785431
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) rs730881116
NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs) rs1257886811
NM_001277115.2(DNAH11):c.3253C>T (p.Gln1085Ter) rs1562691736
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_001292034.3(TAB2):c.1104C>G (p.Tyr368Ter) rs2114886711
NM_001292034.3(TAB2):c.1340_1341del (p.Ser447fs) rs2114887873
NM_001292034.3(TAB2):c.1433_1448del (p.Pro478fs)
NM_001292034.3(TAB2):c.1501G>T (p.Glu501Ter)
NM_001292034.3(TAB2):c.1522del (p.Asp508fs)
NM_001292034.3(TAB2):c.1526del (p.Pro509fs) rs1781533816
NM_001292034.3(TAB2):c.1591_1593delinsTTTT (p.Ala531fs)
NM_001292034.3(TAB2):c.1764+1G>A rs1782223593
NM_001292034.3(TAB2):c.548C>T (p.Pro183Leu)
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001292034.3(TAB2):c.814C>T (p.Gln272Ter) rs2114885325
NM_001292034.3(TAB2):c.878del (p.Ser293fs) rs1554263268
NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg) rs748737164
NM_001308093.3(GATA4):c.191G>A (p.Gly64Glu)
NM_001308093.3(GATA4):c.851G>A (p.Arg284His) rs180765750
NM_001308093.3(GATA4):c.879C>G (p.Cys293Trp) rs2130313407
NM_001308093.3(GATA4):c.961C>T (p.Arg321Trp) rs1282433424
NM_001354640.2(CIROP):c.1331dup (p.Leu444fs)
NM_001377.3(DYNC2H1):c.5920G>T (p.Gly1974Ter) rs1861879186
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys) rs1445910672
NM_001379200.1(TBX1):c.437+1G>C
NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) rs1936727304
NM_001406838.1(KCNQ1):c.478-12807del rs1848316236
NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys) rs1567511932
NM_001451.3(FOXF1):c.166C>G (p.Leu56Val) rs1969548621
NM_001451.3(FOXF1):c.179C>T (p.Ala60Val) rs2143184507
NM_001451.3(FOXF1):c.256C>T (p.Arg86Trp)
NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys) rs1969550367
NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr) rs1057518868
NM_001451.3(FOXF1):c.286G>T (p.Val96Leu) rs1969550532
NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro) rs1597291380
NM_001451.3(FOXF1):c.841_862del (p.Gly281fs)
NM_001451.3(FOXF1):c.950del (p.Asn317fs) rs1969566259
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs) rs768027510
NM_001492.6(GDF1):c.380G>A (p.Trp127Ter) rs900625437
NM_001492.6(GDF1):c.776_801del (p.Leu259fs) rs1555702261
NM_001492.6(GDF1):c.[1008C>G];[681C>A]
NM_001743.6(CALM2):c.268T>C (p.Phe90Leu)
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) rs398124647
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile) rs398124647
NM_001743.6(CALM2):c.313G>C (p.Glu105Gln)
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.396T>G (p.Asp132Glu) rs398124648
NM_001743.6(CALM2):c.397G>A (p.Gly133Ser) rs2103823599
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn) rs398124650
NM_001743.6(CALM2):c.400G>C (p.Asp134His) rs398124650
NM_001743.6(CALM2):c.407A>C (p.Gln136Pro) rs398124649
NM_001743.6(CALM2):c.423G>C (p.Glu141Asp) rs2103821507
NM_001743.6(CALM2):c.434T>G (p.Met145Arg) rs1558693760
NM_001927.4(DES):c.407T>C (p.Leu136Pro) rs397516695
NM_001943.5(DSG2):c.2750del (p.Ala917fs)
NM_002471.4(MYH6):c.1223G>A (p.Gly408Asp)
NM_002471.4(MYH6):c.1962+2T>C
NM_002471.4(MYH6):c.2033A>G (p.Asn678Ser) rs515726230
NM_002941.4(ROBO1):c.2840-1G>C rs1706274257
NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His) rs1085307769
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_003221.4(TFAP2B):c.707G>A (p.Arg236His) rs1325125531
NM_003221.4(TFAP2B):c.981C>A (p.Cys327Ter)
NM_003413.4(ZIC3):c.1079G>A (p.Cys360Tyr)
NM_003413.4(ZIC3):c.764G>C (p.Trp255Ser) rs886041111
NM_003413.4(ZIC3):c.958C>T (p.Arg320Ter) rs1602743059
NM_004115.4(FGF14):c.486dup (p.Arg163fs) rs1566823361
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004387.4(NKX2-5):c.335-3C>G rs876657934
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.469T>G (p.Phe157Val)
NM_004387.4(NKX2-5):c.668del (p.Leu223fs) rs1581108237
NM_004387.4(NKX2-5):c.746del (p.Gly249fs)
NM_004387.4(NKX2-5):c.752del (p.Asn251fs) rs879253754
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.804C>G (p.Tyr268Ter) rs1761346424
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu) rs1057515420
NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly) rs1057518914
NM_004985.5(KRAS):c.197_223dup (p.Ala66_Thr74dup) rs2141509708
NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs) rs1933151965
NM_005126.5(NR1D2):c.523C>T (p.Arg175Trp) rs1358487339
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr) rs2140432240
NM_005159.5(ACTC1):c.312del (p.Thr105fs) rs1891747424
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala) rs1595761333
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)
NM_005159.5(ACTC1):c.635G>A (p.Arg212His) rs397517067
NM_005159.5(ACTC1):c.663_679dup (p.Asn227fs) rs2140430645
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys) rs2140430561
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)
NM_005184.4(CALM3):c.422A>G (p.Glu141Gly) rs1555814427
NM_005632.2:c.2904+1_2905-45del
NM_005751.5(AKAP9):c.10865G>A (p.Trp3622Ter) rs1563145763
NM_005751.5(AKAP9):c.1489G>T (p.Glu497Ter) rs730880043
NM_005751.5(AKAP9):c.2295T>A (p.Asp765Glu) rs796052199
NM_005751.5(AKAP9):c.5341T>A (p.Ser1781Thr) rs796052200
NM_006079.5(CITED2):c.701A>C (p.Glu234Ala) rs1583066622
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) rs730882253
NM_006888.6(CALM1):c.398G>A (p.Gly133Glu) rs1555366045
NM_007078.3(LDB3):c.718G>A (p.Asp240Asn) rs959113234
NM_007363.5(NONO):c.246_249del (p.Pro83fs) rs2031334549
NM_013266.4(CTNNA3):c.160del (p.Arg54fs)
NM_014209.4(ETV2):c.350del (p.Gly117fs) rs755996862
NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr) rs371833362
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_015335.5(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg) rs1555706928
NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter) rs202235419
NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs) rs1843262329
NM_017617.5(NOTCH1):c.1810del (p.Ile604fs) rs1589066272
NM_017617.5(NOTCH1):c.2014+1G>A rs515726232
NM_017617.5(NOTCH1):c.2741-1G>A rs1843152606
NM_017617.5(NOTCH1):c.5061G>T (p.Gln1687His) rs515726233
NM_017617.5(NOTCH1):c.5281del (p.Arg1761fs) rs515726231
NM_017617.5(NOTCH1):c.5385-1G>A rs1843006535
NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) rs367557471
NM_018055.5(NODAL):c.158_165del (p.Pro53fs)
NM_018055.5(NODAL):c.194-1G>T rs1564667617
NM_018055.5(NODAL):c.2T>C (p.Met1Thr)
NM_018055.5(NODAL):c.700_707del (p.Arg234fs) rs1564667180
NM_018055.5(NODAL):c.824G>A (p.Arg275His) rs555563029
NM_018055.5(NODAL):c.891+2T>A rs1564667078
NM_018365.4(MNS1):c.407_410del (p.Glu136fs) rs1596264554
NM_018365.4(MNS1):c.538C>T (p.Arg180Ter)
NM_018365.4(MNS1):c.675AGA[1] (p.Glu226del)
NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) rs1556009247
NM_020774.4(MIB1):c.2039del (p.Gln680fs) rs757527279
NM_020774.4(MIB1):c.2878C>T (p.Gln960Ter) rs1430105900
NM_021005.4(NR2F2):c.1019del (p.Lys340fs)
NM_021005.4(NR2F2):c.558dup (p.Arg187fs)
NM_021005.4(NR2F2):c.83_84dup (p.Val29fs) rs1555446983
NM_021267.5(CERS1):c.*1120G>A rs2145985085
NM_022114.4(PRDM16):c.2434del (p.Arg812fs)
NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)
NM_022114.4(PRDM16):c.3271C>T (p.Arg1091Ter)
NM_033337.3(CAV3):c.213G>A (p.Trp71Ter) rs2124988406
NM_033337.3(CAV3):c.294C>A (p.Cys98Ter) rs200202503
NM_033337.3(CAV3):c.299T>A (p.Ile100Asn) rs1708139265
NM_033337.3(CAV3):c.37A>T (p.Ile13Phe) rs796052171
NM_033337.3(CAV3):c.80G>C (p.Arg27Pro) rs116840778
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr) rs730882205
NM_138295.5(PKD1L1):c.1071del (p.His358fs)
NM_138295.5(PKD1L1):c.2453+1G>A
NM_138295.5(PKD1L1):c.4938T>G (p.Tyr1646Ter) rs2128741114
NM_138295.5(PKD1L1):c.6124del (p.His2042fs)
NM_138295.5(PKD1L1):c.6748C>T (p.Arg2250Ter)
NM_145020.5(CFAP53):c.301_473+1del rs1555672928
NM_145020.5(CFAP53):c.877C>T (p.Gln293Ter) rs897584290
NM_145054.5(CFAP52):c.1304del (p.Gly435fs) rs1360832162
NM_147191.1(MMP21):c.1303del (p.Ser435fs)
NM_147191.1(MMP21):c.240dup (p.Lys81fs) rs886041273
NM_147191.1(MMP21):c.557G>T (p.Ser186Ile) rs1312300020
NM_181486.4(TBX5):c.253C>A (p.Pro85Thr) rs1565941579
NM_181486.4(TBX5):c.301A>T (p.Ile101Phe) rs515726234
NM_181486.4(TBX5):c.404T>G (p.Leu135Arg) rs1057519050
Single allele

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