ClinVar Miner

List of variants studied for congenital anomaly of cardiovascular system by OMIM

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 348
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04474
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963 0.00650
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_001354640.2(CIROP):c.92C>T (p.Ser31Phe) rs553352307 0.00106
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_005257.6(GATA6):c.533C>T (p.Ala178Val) rs387906815 0.00087
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_032545.4(CFC1):c.522del (p.Ala175fs) rs746231039 0.00079
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904 0.00073
NM_005257.6(GATA6):c.592C>G (p.Leu198Val) rs387906814 0.00068
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr) rs374016704 0.00028
NM_012464.5(TLL1):c.713T>C (p.Val238Ala) rs137852952 0.00025
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) rs104894169 0.00023
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp) rs121434424 0.00021
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965 0.00019
NM_003737.4(DCHS1):c.7538G>A (p.Arg2513His) rs201457110 0.00019
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) rs137854610 0.00016
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) rs2227885 0.00014
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe) rs200035428 0.00013
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_138295.5(PKD1L1):c.8005C>T (p.Arg2669Ter) rs137883370 0.00009
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 0.00008
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190 0.00006
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) rs151344631 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) rs375086983 0.00004
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) rs45514002 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) rs199472709 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys) rs768737101 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu) rs397514744 0.00003
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys) rs368489876 0.00002
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu) rs104894654 0.00002
NM_138295.5(PKD1L1):c.160+1G>A rs753911740 0.00002
NM_145054.5(CFAP52):c.811G>A (p.Gly271Arg) rs140921334 0.00002
NM_198968.4(DZIP1):c.72C>A (p.Ser24Arg) rs1378714230 0.00002
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu) rs120074183 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) rs74315446 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys) rs121912514 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 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_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001106.4(ACVR2B):c.1480G>A (p.Val494Ile) rs121434438 0.00001
NM_001136239.4(PRDM6):c.1385A>G (p.Gln462Arg) rs879253872 0.00001
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter) rs587777422 0.00001
NM_001292034.3(TAB2):c.622C>T (p.Pro208Ser) rs267607101 0.00001
NM_001292034.3(TAB2):c.688C>A (p.Gln230Lys) rs267607100 0.00001
NM_001354640.2(CIROP):c.1037G>A (p.Trp346Ter) rs1014082266 0.00001
NM_001354640.2(CIROP):c.1151C>T (p.Ser384Leu) rs183023758 0.00001
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser) rs775975702 0.00001
NM_001492.6(GDF1):c.800G>A (p.Cys267Tyr) rs121434423 0.00001
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val) rs121434500 0.00001
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566 0.00001
NM_007078.3(LDB3):c.617C>T (p.Thr206Ile) rs121908337 0.00001
NM_012337.3(CFAP45):c.907C>T (p.Arg303Ter) rs201144590 0.00001
NM_015335.5(MED13L):c.5615G>A (p.Arg1872His) rs28940310 0.00001
NM_015335.5(MED13L):c.6068A>G (p.Asp2023Gly) rs121918333 0.00001
NM_018055.5(NODAL):c.891+1G>A rs878855044 0.00001
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser) rs397514743 0.00001
NM_033337.3(CAV3):c.236T>G (p.Leu79Arg) rs121909282 0.00001
NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser) rs886037834 0.00001
NM_145020.5(CFAP53):c.121C>T (p.Arg41Ter) rs375801610 0.00001
NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly) rs886037751 0.00001
NM_174934.4(SCN4B):c.535C>T (p.Leu179Phe) rs121434386 0.00001
A103V
CITED2, 27-BP INS, NT534
KCNQ1, IVS1
NC_000017.10:g.9481617_9489649del
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] rs281865421
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668
NM_000218.2(KCNQ1):c.[1249G>A;760G>A]
NM_000218.3(KCNQ1):c.1018_1020del (p.Phe340del) rs397508069
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544fs) rs397515637
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys) rs120074185
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1]) rs397508107
NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu) rs120074191
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs) rs397508110
NM_000218.3(KCNQ1):c.500_502del (p.Phe167_Gly168delinsTrp) rs397508113
NM_000218.3(KCNQ1):c.532G>C (p.Ala178Pro) rs120074177
NM_000218.3(KCNQ1):c.533delinsGG (p.Ala178fs) rs397508115
NM_000218.3(KCNQ1):c.562del (p.Trp188fs) rs397508116
NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg) rs104894252
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs) rs397508117
NM_000218.3(KCNQ1):c.728G>C (p.Arg243Pro) rs120074196
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe) rs120074180
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg) rs120074181
NM_000218.3(KCNQ1):c.922-1G>C rs387906290
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile) rs120074182
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) rs28933384
NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del) rs794728438
NM_000238.4(KCNH2):c.1261del (p.Thr421fs) rs1554426258
NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp) rs121912505
NM_000238.4(KCNH2):c.1672G>C (p.Ala558Pro) rs121912516
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.4(KCNH2):c.1714G>C (p.Gly572Arg) rs9333649
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys) rs121912508
NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg) rs28928904
NM_000238.4(KCNH2):c.1831T>C (p.Tyr611His) rs199472942
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.193A>C (p.Thr65Pro) rs121912511
NM_000238.4(KCNH2):c.2398+1G>C rs794728391
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met) rs121912506
NM_000238.4(KCNH2):c.2582A>T (p.Asn861Ile) rs121912513
NM_000238.4(KCNH2):c.2592+1G>A rs1554424772
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) rs794728455
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter) rs121912509
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr) rs121909376
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) rs397514751
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) rs121913642
NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu) rs121913646
NM_000257.4(MYH7):c.2292C>G (p.Phe764Leu) rs121913643
NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr) rs267606909
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000257.4(MYH7):c.5754C>R (p.Asn1918Lys) rs138110910
NM_000257.4(MYH7):c.667G>A (p.Ala223Thr) rs121913645
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp) rs397515482
NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) rs137854605
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) rs137854600
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) rs137854614
NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp) rs397514449
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser) rs80315385
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp) rs1568469857
NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe)
NM_000719.7(CACNA1C):c.2500A>G (p.Lys834Glu) rs1555836187
NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg) rs750835733
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys) rs199473391
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr) rs797044881
NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met) rs1569139160
NM_000891.3(KCNJ2):c.161G>T (p.Cys54Phe) rs199473650
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val) rs104894575
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg) rs104894585
NM_000891.3(KCNJ2):c.285_296del (p.Trp96_Phe99del) rs2144376746
NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu) rs104894581
NM_000891.3(KCNJ2):c.646A>C (p.Asn216His) rs104894583
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val) rs104894579
NM_000891.3(KCNJ2):c.904G>A (p.Val302Met) rs104894582
NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro) rs199473387
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del) rs2074390325
NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys) rs104894501
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.742A>G (p.Lys248Glu) rs199476319
NM_001077653.2(TBX20):c.363C>G (p.Ile121Met) rs267607106
NM_001077653.2(TBX20):c.583C>T (p.Gln195Ter) rs137852955
NM_001136239.4(PRDM6):c.1646G>A (p.Arg549Gln) rs879255278
NM_001136239.4(PRDM6):c.788G>C (p.Cys263Ser) rs879255279
NM_001136271.3(NKX2-6):c.451T>C (p.Phe151Leu) rs267606914
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.316G>A (p.Glu106Lys) rs869312881
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.644G>T (p.Arg215Leu) rs121964860
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn) rs121964861
NM_001292034.3(TAB2):c.1398dup (p.Thr467fs) rs1781524947
NM_001292034.3(TAB2):c.1491T>A (p.Tyr497Ter) rs1562443558
NM_001292034.3(TAB2):c.446C>G (p.Ser149Ter) rs2114883576
NM_001308093.3(GATA4):c.1078del (p.Glu360fs) rs1585703301
NM_001308093.3(GATA4):c.127C>T (p.Arg43Trp) rs387906770
NM_001308093.3(GATA4):c.1328C>T (p.Ala443Val) rs146017816
NM_001308093.3(GATA4):c.155C>T (p.Ser52Phe) rs104894074
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) rs1182566703
NM_001308093.3(GATA4):c.842C>T (p.Thr281Met) rs387906771
NM_001308093.3(GATA4):c.889G>A (p.Gly297Ser) rs104894073
NM_001308093.3(GATA4):c.889G>C (p.Gly297Arg) rs104894073
NM_001308093.3(GATA4):c.889G>T (p.Gly297Cys) rs104894073
NM_001308093.3(GATA4):c.931A>G (p.Met311Val) rs387906772
NM_001308093.3(GATA4):c.949C>G (p.Gln317Glu) rs56298569
NM_001354640.2(CIROP):c.1166G>T (p.Arg389Ile) rs2140282332
NM_001354640.2(CIROP):c.1364TCT[1] (p.Phe456del) rs1392604380
NM_001354640.2(CIROP):c.571C>T (p.Arg191Ter) rs764530848
NM_001368067.1(LDB3):c.383A>T (p.Lys128Met) rs121908339
NM_001379200.1(TBX1):c.1250del (p.Ser417fs) rs1601294362
NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs746335599
NM_001379200.1(TBX1):c.470T>A (p.Phe157Tyr) rs28939675
NM_001451.3(FOXF1):c.1031_1032del (p.Phe344fs) rs1597292524
NM_001451.3(FOXF1):c.1057_1078dup (p.Gly360fs) rs1969592103
NM_001451.3(FOXF1):c.1138T>C (p.Ter380Arg) rs121909337
NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter) rs121909336
NM_001451.3(FOXF1):c.253T>C (p.Phe85Leu) rs1969550135
NM_001451.3(FOXF1):c.850dup (p.Tyr284fs) rs2143186824
NM_001492.6(GDF1):c.1090_1092del (p.Met364del) rs753643819
NM_001492.6(GDF1):c.909dup (p.Val304fs) rs606231383
NM_001743.6(CALM2):c.287A>T (p.Asp96Val) rs730882254
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.389A>G (p.Asp130Gly) rs1573214163
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) rs398124648
NM_001743.6(CALM2):c.400G>C (p.Asp134His) rs398124650
NM_001743.6(CALM2):c.407A>C (p.Gln136Pro) rs398124649
NM_002471.4(MYH6):c.2459T>A (p.Ile820Asn) rs267606903
NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg) rs80338910
NM_003221.4(TFAP2B):c.439_442del (p.Pro147fs) rs879253871
NM_003221.4(TFAP2B):c.541-2A>T rs879253870
NM_003221.4(TFAP2B):c.601+5G>A rs80338911
NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser) rs80338912
NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys) rs80338912
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp) rs80338914
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) rs80338915
NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys) rs80338917
NM_003413.4(ZIC3):c.1213A>G (p.Lys405Glu) rs104894962
NM_003413.4(ZIC3):c.1222A>T (p.Lys408Ter) rs387906498
NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter) rs104894960
NM_003413.4(ZIC3):c.758G>C (p.Cys253Ser) rs104894961
NM_003413.4(ZIC3):c.763T>G (p.Trp255Gly) rs122463168
NM_003413.4(ZIC3):c.804C>A (p.Cys268Ter) rs122462166
NM_003413.4(ZIC3):c.968C>T (p.Thr323Met) rs122462165
NM_003413.4(ZIC3):c.972_973insTT (p.Glu325fs) rs2124184319
NM_004387.4(NKX2-5):c.175C>G (p.Pro59Ala) rs387906775
NM_004387.4(NKX2-5):c.215_221del (p.Glu72fs) rs606231358
NM_004387.4(NKX2-5):c.228_229del (p.Pro77fs) rs606231359
NM_004387.4(NKX2-5):c.262del (p.Ala88fs) rs606231360
NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu) rs387906774
NM_004387.4(NKX2-5):c.44A>T (p.Lys15Ile) rs387906773
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter) rs104893901
NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met) rs104893900
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys) rs104893906
NM_004387.4(NKX2-5):c.592C>T (p.Gln198Ter) rs104893903
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905
NM_004387.4(NKX2-5):c.768T>A (p.Tyr256Ter) rs104893907
NM_004387.4(NKX2-5):c.769C>G (p.Pro257Ala) rs387906776
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_004387.4(NKX2-5):c.896A>G (p.Asp299Gly) rs137852683
NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly) rs121912674
NM_005159.5(ACTC1):c.215_231del (p.Pro72fs) rs387906585
NM_005159.5(ACTC1):c.373A>G (p.Met125Val) rs121912677
NM_005184.4(CALM3):c.389A>G (p.Asp130Gly) rs1599759554
NM_005184.4(CALM3):c.421G>A (p.Glu141Lys) rs1599759598
NM_005257.6(GATA6):c.1396A>C (p.Asn466His) rs387906813
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs) rs1598737972
NM_005901.6(SMAD2):c.237-12A>G rs1402819968
NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter) rs1064793873
NM_005901.6(SMAD2):c.784+1G>A rs397509416
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys) rs367537998
NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser) rs797044882
NM_006079.5(CITED2):c.510_536del (p.163GSSTPGGSG[1]) rs779637348
NM_006079.5(CITED2):c.581GCGGCA[2] (p.196SG[1]) rs531316452
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) rs730882253
NM_006888.6(CALM1):c.389A>G (p.Asp130Gly) rs730882252
NM_006888.6(CALM1):c.426C>G (p.Phe142Leu) rs199744595
NM_007078.3(LDB3):c.1035C>G (p.Ile345Met) rs121908336
NM_012082.4(ZFPM2):c.2209A>G (p.Lys737Glu) rs397514521
NM_012082.4(ZFPM2):c.681T>G (p.Ile227Met) rs397514520
NM_012337.3(CFAP45):c.1472_1477delinsT (p.Gln491fs) rs2101839185
NM_012337.3(CFAP45):c.452_464del (p.Gln151fs) rs2101848342
NM_012337.3(CFAP45):c.721C>T (p.Gln241Ter) rs2101847449
NM_012464.5(TLL1):c.1885A>G (p.Ile629Val) rs137852953
NM_012464.5(TLL1):c.544A>C (p.Met182Leu) rs137852951
NM_015103.3(PLXND1):c.2733C>G (p.Ile911Met)
NM_015103.3(PLXND1):c.3895C>T (p.Arg1299Cys)
NM_015103.3(PLXND1):c.5323A>T (p.Ile1775Phe)
NM_015103.3(PLXND1):c.652A>T (p.Ser218Cys)
NM_015103.3(PLXND1):c.880_881del (p.Gln294fs)
NM_018055.5(NODAL):c.700_723delinsTTGACTTCC (p.Arg234_Pro241delinsLeuThrSer) rs2132214841
NM_018365.4(MNS1):c.407_410del (p.Glu136fs) rs1596264554
NM_018365.4(MNS1):c.724C>T (p.Arg242Ter) rs185005213
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr) rs587777371
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup) rs780808943
NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter) rs1555447012
NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile) rs587777372
NM_021005.4(NR2F2):c.856dup (p.Val286fs) rs886041730
NM_021005.4(NR2F2):c.970+1G>A rs587777374
NM_021005.4(NR2F2):c.97_103del (p.Pro33fs) rs1899167019
NM_022114.4(PRDM16):c.1573dup (p.Arg525fs) rs886041395
NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter) rs397514742
NM_022114.4(PRDM16):c.2660T>C (p.Leu887Pro) rs202115331
NM_032545.4(CFC1):c.334C>T (p.Arg112Cys) rs104893611
NM_032545.4(CFC1):c.361_362+18dup rs863223280
NM_032834.4(ALG10):c.1339G>A (p.Val447Ile) rs121908850
NM_033337.3(CAV3):c.253G>A (p.Ala85Thr) rs104893715
NM_033337.3(CAV3):c.40G>C (p.Val14Leu) rs121909281
NM_033337.3(CAV3):c.423C>G (p.Ser141Arg) rs104893713
NM_080473.5(GATA5):c.46T>G (p.Tyr16Asp) rs1555897088
NM_080473.5(GATA5):c.569T>C (p.Val190Ala) rs782051102
NM_080473.5(GATA5):c.595C>G (p.Leu199Val) rs1555896779
NM_080473.5(GATA5):c.598T>G (p.Trp200Gly) rs1555896778
NM_138295.5(PKD1L1):c.1387C>T (p.Gln463Ter)
NM_138295.5(PKD1L1):c.4039C>T (p.Arg1347Ter) rs370984700
NM_138295.5(PKD1L1):c.4798_4799del (p.Gln1600fs)
NM_138295.5(PKD1L1):c.6473+2_6473+3del rs528302390
NM_145020.5(CFAP53):c.1213+1G>A rs2144412496
NM_145054.5(CFAP52):c.1304del (p.Gly435fs) rs1360832162
NM_172201.2(KCNE2):c.178T>C (p.Phe60Leu) rs16991654
NM_174934.4(SCN4B):c.485T>G (p.Val162Gly) rs587777559
NM_174934.4(SCN4B):c.496A>C (p.Ile166Leu) rs587777560

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