ClinVar Miner

List of variants studied for congenital heart disease by Baylor Genetics

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu) rs112433432 0.00088
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) rs73226383 0.00070
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu) rs377716628 0.00032
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) rs79654911 0.00019
NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys) rs146022334 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) rs201048693 0.00018
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00014
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln) rs763908636 0.00008
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) rs779598020 0.00006
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) rs368945564 0.00004
NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met) rs767728528 0.00004
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys) rs45511396 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_001148.6(ANK2):c.7729G>A (p.Gly2577Arg) rs768485016 0.00003
NM_001386795.1(DTNA):c.1637G>A (p.Arg546Gln) rs773504046 0.00003
NM_002471.4(MYH6):c.1088T>C (p.Met363Thr) rs150272218 0.00003
NM_002471.4(MYH6):c.2615G>A (p.Arg872His) rs773162706 0.00003
NM_002471.4(MYH6):c.4750G>A (p.Glu1584Lys) rs1280321639 0.00003
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_005751.5(AKAP9):c.48+5G>A rs377559019 0.00002
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe) rs143912947 0.00002
NM_007078.3(LDB3):c.1696A>G (p.Met566Val) rs775232208 0.00002
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.386+16231G>A rs1490391959 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000256.3(MYBPC3):c.3112G>A (p.Val1038Met) rs370223247 0.00001
NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp) rs368973872 0.00001
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022 0.00001
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp) rs730880619 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile) rs201195256 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg) rs760187215 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_001077653.2(TBX20):c.493C>T (p.His165Tyr) rs370219446 0.00001
NM_001136239.4(PRDM6):c.1781T>G (p.Val594Gly) rs1470510188 0.00001
NM_001148.6(ANK2):c.1459G>T (p.Gly487Cys) rs1470709043 0.00001
NM_001267550.2(TTN):c.42872C>T (p.Ala14291Val) rs746486506 0.00001
NM_001308093.3(GATA4):c.931A>T (p.Met311Leu) rs387906772 0.00001
NM_001386795.1(DTNA):c.1352T>C (p.Leu451Pro) rs2096416305 0.00001
NM_001492.6(GDF1):c.997G>A (p.Asp333Asn) rs1429110767 0.00001
NM_002471.4(MYH6):c.1411-12T>C rs749244720 0.00001
NM_002471.4(MYH6):c.1578G>C (p.Glu526Asp) rs753062079 0.00001
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674 0.00001
NM_007078.3(LDB3):c.1851T>C (p.Ile617=) rs145402041 0.00001
NM_012082.4(ZFPM2):c.2201G>A (p.Arg734His) rs750762877 0.00001
NM_020774.4(MIB1):c.2779+1G>C rs570099048 0.00001
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1
GRCh37/hg19 8p23.1(chr8:8403375-11805960)
GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)
NM_000214.3(JAG1):c.1036C>T (p.His346Tyr) rs2067347304
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs) rs2067268275
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly) rs12720459
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu) rs779383393
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000238.4(KCNH2):c.2966-12C>G rs1800949572
NM_000238.4(KCNH2):c.991del (p.Ser331fs)
NM_000256.3(MYBPC3):c.1234T>C (p.Phe412Leu) rs2095890795
NM_000256.3(MYBPC3):c.1930C>T (p.Pro644Ser) rs2095886536
NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs) rs869025468
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
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.484C>T (p.Gln162Ter) rs730880618
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) rs727504753
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2951G>T (p.Gly984Val) rs1892575677
NM_000257.4(MYH7):c.345+1G>A rs112907315
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
NM_000257.4(MYH7):c.4361C>A (p.Ala1454Asp) rs1892259980
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) rs545875689
NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys) rs878853840
NM_000257.4(MYH7):c.732+1del rs397516266
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe) rs765581751
NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=) rs1057524804
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) rs1556123007
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly) rs786205817
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001018005.2(TPM1):c.550G>A (p.Glu184Lys) rs2035529273
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) rs199476317
NM_001148.6(ANK2):c.10375C>G (p.Pro3459Ala) rs761631834
NM_001148.6(ANK2):c.4341del (p.Asn1447_Leu1448insTer) rs2094804945
NM_001148.6(ANK2):c.7985C>T (p.Ser2662Phe) rs1564029811
NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser) rs587782933
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001276345.2(TNNT2):c.433del (p.Ala145fs)
NM_001276345.2(TNNT2):c.493G>T (p.Glu165Ter) rs1558225837
NM_001292034.3(TAB2):c.1154C>T (p.Pro385Leu) rs71568273
NM_001292034.3(TAB2):c.1491T>A (p.Tyr497Ter) rs1562443558
NM_001292034.3(TAB2):c.1764+1G>A rs1782223593
NM_001292034.3(TAB2):c.2051G>A (p.Cys684Tyr) rs1562459581
NM_001292034.3(TAB2):c.287G>A (p.Arg96Lys) rs1781470267
NM_001292034.3(TAB2):c.473_474del (p.His158fs)
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001308093.3(GATA4):c.851G>A (p.Arg284His) rs180765750
NM_001379200.1(TBX1):c.437+1G>C
NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)
NM_001379200.1(TBX1):c.902C>G (p.Ala301Gly) rs1936812731
NM_001386795.1(DTNA):c.442T>A (p.Leu148Ile)
NM_001386795.1(DTNA):c.604-10T>C rs2095586366
NM_001451.3(FOXF1):c.-2C>T rs1969543882
NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter) rs1393788111
NM_001492.6(GDF1):c.649C>G (p.Leu217Val) rs2055909840
NM_002471.4(MYH6):c.1410+1G>A rs1566513862
NM_002471.4(MYH6):c.3946G>A (p.Asp1316Asn)
NM_002471.4(MYH6):c.478A>G (p.Asn160Asp)
NM_002471.4(MYH6):c.5452G>C (p.Glu1818Gln) rs201494081
NM_002471.4(MYH6):c.864C>G (p.Tyr288Ter) rs186265521
NM_003098.3(SNTA1):c.185C>A (p.Ala62Glu) rs1990630503
NM_003221.4(TFAP2B):c.1105G>C (p.Asp369His) rs1762765738
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp) rs80338914
NM_005157.6(ABL1):c.1009G>A (p.Ala337Thr) rs1060499548
NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys) rs1060499547
NM_005159.5(ACTC1):c.312del (p.Thr105fs) rs1891747424
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala) rs1595761333
NM_005159.5(ACTC1):c.635G>A (p.Arg212His) rs397517067
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys) rs2140430561
NM_005751.5(AKAP9):c.1243G>A (p.Glu415Lys)
NM_005751.5(AKAP9):c.9838C>G (p.Gln3280Glu) rs1816657238
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) rs1057518741
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) rs1057518739
NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter) rs114638163
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) rs1057518740
NM_005992.1(TBX1):c.1111G>A (p.Asp371Asn) rs1937156881
NM_006079.5(CITED2):c.114CCA[1] (p.His39del) rs749590293
NM_006079.5(CITED2):c.388C>T (p.Pro130Ser)
NM_007078.3(LDB3):c.608C>G (p.Ser203Trp)
NM_007078.3(LDB3):c.805A>C (p.Asn269His) rs1367297073
NM_012082.4(ZFPM2):c.1046A>C (p.Asn349Thr) rs1290587796
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) rs1876520009
NM_020774.4(MIB1):c.2810A>G (p.Asp937Gly)
NM_020774.4(MIB1):c.2878C>T (p.Gln960Ter) rs1430105900
NM_021005.4(NR2F2):c.1094T>A (p.Leu365His)
NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)
NM_022114.4(PRDM16):c.534C>A (p.Cys178Ter) rs1643176372

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