ClinVar Miner

List of variants reported as uncertain significance for familial atrioventricular septal defect

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 686
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) rs904519303 0.00022
NM_001308093.3(GATA4):c.392C>G (p.Ala131Gly) rs1013984246 0.00019
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala) rs146243018 0.00018
NM_001308093.3(GATA4):c.8A>C (p.Gln3Pro) rs374132087 0.00016
NM_005257.6(GATA6):c.1027G>A (p.Ala343Thr) rs142601402 0.00016
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser) rs766886560 0.00016
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_001308093.3(GATA4):c.280G>A (p.Ala94Thr) rs780764610 0.00010
NM_005257.6(GATA6):c.259C>T (p.Pro87Ser) rs563978220 0.00010
NM_001308093.3(GATA4):c.1100C>T (p.Thr367Met) rs781198110 0.00009
NM_001308093.3(GATA4):c.942G>T (p.Glu314Asp) rs372407808 0.00009
NM_001308093.3(GATA4):c.623T>C (p.Met208Thr) rs140892695 0.00008
NM_001308093.3(GATA4):c.1030G>A (p.Ala344Thr) rs370588269 0.00007
NM_005257.6(GATA6):c.16G>A (p.Gly6Ser) rs139750927 0.00007
NM_001308093.3(GATA4):c.611A>G (p.Asn204Ser) rs562967066 0.00006
NM_005257.6(GATA6):c.1672A>G (p.Ser558Gly) rs138641332 0.00006
NM_005257.6(GATA6):c.370G>A (p.Ala124Thr) rs372228686 0.00006
NM_005257.6(GATA6):c.660C>T (p.Gly220=) rs1385756157 0.00006
NM_005257.6(GATA6):c.775G>A (p.Val259Ile) rs911752926 0.00005
NM_001308093.3(GATA4):c.1106C>G (p.Pro369Arg) rs775379687 0.00004
NM_001308093.3(GATA4):c.1243G>A (p.Val415Ile) rs900347264 0.00004
NM_001308093.3(GATA4):c.244A>G (p.Thr82Ala) rs961114777 0.00004
NM_001308093.3(GATA4):c.283G>A (p.Asp95Asn) rs745305589 0.00004
NM_001308093.3(GATA4):c.30C>A (p.Asn10Lys) rs1274085631 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001308093.3(GATA4):c.772C>T (p.Pro258Ser) rs368091578 0.00004
NM_001308093.3(GATA4):c.860C>T (p.Ala287Val) rs116430078 0.00004
NM_001308093.3(GATA4):c.994C>T (p.Pro332Ser) rs768967856 0.00004
NM_005257.6(GATA6):c.1302+3G>A rs896413516 0.00004
NM_005257.6(GATA6):c.1628C>G (p.Ala543Gly) rs761668180 0.00004
NM_005257.6(GATA6):c.1754G>T (p.Arg585Leu) rs201707559 0.00004
NM_005257.6(GATA6):c.89G>A (p.Arg30Gln) rs756406083 0.00004
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) rs143796440 0.00004
NM_021005.4(NR2F2):c.19A>G (p.Thr7Ala) rs901462929 0.00004
NM_001308093.3(GATA4):c.1087C>T (p.Arg363Cys) rs145999237 0.00003
NM_001308093.3(GATA4):c.1149+6C>T rs572050627 0.00003
NM_001308093.3(GATA4):c.1205C>T (p.Ser402Leu) rs748130910 0.00003
NM_001308093.3(GATA4):c.1231T>C (p.Tyr411His) rs372808540 0.00003
NM_001308093.3(GATA4):c.260C>A (p.Pro87Gln) rs1050251819 0.00003
NM_001308093.3(GATA4):c.34G>C (p.Gly12Arg) rs750597721 0.00003
NM_001308093.3(GATA4):c.599C>T (p.Ala200Val) rs1313649801 0.00003
NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro) rs773545065 0.00003
NM_005257.6(GATA6):c.1123G>A (p.Gly375Ser) rs954640705 0.00003
NM_005257.6(GATA6):c.1696G>A (p.Asp566Asn) rs947813106 0.00003
NM_001308093.3(GATA4):c.1070G>T (p.Ser357Ile) rs1014543362 0.00002
NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys) rs368489876 0.00002
NM_001308093.3(GATA4):c.1099A>T (p.Thr367Ser) rs771120775 0.00002
NM_001308093.3(GATA4):c.1136G>T (p.Ser379Ile) rs878854481 0.00002
NM_001308093.3(GATA4):c.1181G>A (p.Gly394Glu) rs1000341752 0.00002
NM_001308093.3(GATA4):c.124C>A (p.Pro42Thr) rs980252090 0.00002
NM_001308093.3(GATA4):c.1262C>A (p.Thr421Asn) rs114839964 0.00002
NM_001308093.3(GATA4):c.1295T>G (p.Val432Gly) rs114944893 0.00002
NM_001308093.3(GATA4):c.179G>A (p.Gly60Asp) rs1451316561 0.00002
NM_001308093.3(GATA4):c.298A>G (p.Thr100Ala) rs891667879 0.00002
NM_001308093.3(GATA4):c.425G>T (p.Gly142Val) rs1188215516 0.00002
NM_001308093.3(GATA4):c.488C>G (p.Pro163Arg) rs540578824 0.00002
NM_001308093.3(GATA4):c.557G>C (p.Ser186Thr) rs763895652 0.00002
NM_001308093.3(GATA4):c.912+5G>A rs371005520 0.00002
NM_001308093.3(GATA4):c.943G>A (p.Gly315Arg) rs377222076 0.00002
NM_005257.6(GATA6):c.1223A>G (p.His408Arg) rs1205923643 0.00002
NM_005257.6(GATA6):c.277G>C (p.Gly93Arg) rs529881815 0.00002
NM_005257.6(GATA6):c.314A>G (p.Asn105Ser) rs1185679421 0.00002
NM_005257.6(GATA6):c.367A>G (p.Thr123Ala) rs1194141406 0.00002
NM_005257.6(GATA6):c.502G>A (p.Gly168Ser) rs774639835 0.00002
NM_005257.6(GATA6):c.589A>C (p.Met197Leu) rs1245355073 0.00002
NM_005257.6(GATA6):c.857G>A (p.Gly286Asp) rs1024878588 0.00002
NM_005257.6(GATA6):c.94C>A (p.Pro32Thr) rs1166309522 0.00002
NM_021005.4(NR2F2):c.4G>T (p.Ala2Ser) rs1236325542 0.00002
NC_000018.10:g.22169190A>T rs916466917 0.00001
NM_001308093.3(GATA4):c.1031C>T (p.Ala344Val) rs1199535707 0.00001
NM_001308093.3(GATA4):c.1036G>A (p.Gly346Ser) rs779421943 0.00001
NM_001308093.3(GATA4):c.1060G>A (p.Ala354Thr) rs770938655 0.00001
NM_001308093.3(GATA4):c.1149G>A (p.Gln383=) rs751950851 0.00001
NM_001308093.3(GATA4):c.1151C>T (p.Thr384Met) rs759067821 0.00001
NM_001308093.3(GATA4):c.1160T>C (p.Val387Ala) rs368991748 0.00001
NM_001308093.3(GATA4):c.1166C>A (p.Ala389Glu) rs376885265 0.00001
NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala) rs1217555878 0.00001
NM_001308093.3(GATA4):c.1241C>T (p.Pro414Leu) rs773626580 0.00001
NM_001308093.3(GATA4):c.125C>A (p.Pro42Gln) rs766590532 0.00001
NM_001308093.3(GATA4):c.1262C>G (p.Thr421Ser) rs114839964 0.00001
NM_001308093.3(GATA4):c.1303G>A (p.Asp435Asn) rs745543448 0.00001
NM_001308093.3(GATA4):c.1318A>G (p.Ile440Val) rs772619099 0.00001
NM_001308093.3(GATA4):c.143T>G (p.Val48Gly) rs1272999942 0.00001
NM_001308093.3(GATA4):c.193G>A (p.Gly65Ser) rs1399618529 0.00001
NM_001308093.3(GATA4):c.19A>G (p.Met7Val) rs899023750 0.00001
NM_001308093.3(GATA4):c.206G>T (p.Gly69Val) rs938776629 0.00001
NM_001308093.3(GATA4):c.214G>T (p.Gly72Cys) rs1310454033 0.00001
NM_001308093.3(GATA4):c.241G>A (p.Gly81Arg) rs1466334264 0.00001
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) rs980402710 0.00001
NM_001308093.3(GATA4):c.269G>C (p.Ser90Thr) rs925893907 0.00001
NM_001308093.3(GATA4):c.278G>C (p.Gly93Ala) rs56191129 0.00001
NM_001308093.3(GATA4):c.349C>G (p.Leu117Val) rs1265057798 0.00001
NM_001308093.3(GATA4):c.404G>A (p.Gly135Asp) rs1386927055 0.00001
NM_001308093.3(GATA4):c.418G>A (p.Gly140Ser) rs1185285048 0.00001
NM_001308093.3(GATA4):c.41C>G (p.Pro14Arg) rs996317979 0.00001
NM_001308093.3(GATA4):c.457G>A (p.Gly153Ser) rs1554488611 0.00001
NM_001308093.3(GATA4):c.464C>T (p.Ala155Val) rs1800021074 0.00001
NM_001308093.3(GATA4):c.467G>T (p.Gly156Val) rs1168049106 0.00001
NM_001308093.3(GATA4):c.491C>T (p.Ala164Val) rs1425061772 0.00001
NM_001308093.3(GATA4):c.55G>A (p.Glu19Lys) rs1139240 0.00001
NM_001308093.3(GATA4):c.592C>T (p.Pro198Ser) rs1359707472 0.00001
NM_001308093.3(GATA4):c.608C>G (p.Pro203Arg) rs1049056938 0.00001
NM_001308093.3(GATA4):c.626T>C (p.Phe209Ser) rs1255379844 0.00001
NM_001308093.3(GATA4):c.631G>A (p.Asp211Asn) rs377673676 0.00001
NM_001308093.3(GATA4):c.640G>C (p.Glu214Gln) rs370946998 0.00001
NM_001308093.3(GATA4):c.727G>A (p.Gly243Ser) rs1060500082 0.00001
NM_001308093.3(GATA4):c.748G>A (p.Gly250Ser) rs1431297203 0.00001
NM_001308093.3(GATA4):c.773C>T (p.Pro258Leu) rs753457161 0.00001
NM_001308093.3(GATA4):c.782G>A (p.Arg261Gln) rs1245034279 0.00001
NM_001308093.3(GATA4):c.784C>G (p.Leu262Val) rs759095800 0.00001
NM_001308093.3(GATA4):c.787-3C>T rs758327243 0.00001
NM_001308093.3(GATA4):c.800G>A (p.Arg267Gln) rs1305097777 0.00001
NM_001308093.3(GATA4):c.83A>G (p.His28Arg) rs534250566 0.00001
NM_001308093.3(GATA4):c.912G>A (p.Gly304=) rs773684507 0.00001
NM_001308093.3(GATA4):c.913-5T>G rs935306106 0.00001
NM_001308093.3(GATA4):c.931A>T (p.Met311Leu) rs387906772 0.00001
NM_001308093.3(GATA4):c.94G>A (p.Ala32Thr) rs773545065 0.00001
NM_001308093.3(GATA4):c.976C>G (p.Leu326Val) rs775993607 0.00001
NM_001308093.3(GATA4):c.98C>T (p.Ala33Val) rs989115054 0.00001
NM_005257.6(GATA6):c.1021G>A (p.Val341Met) rs1270889195 0.00001
NM_005257.6(GATA6):c.1030C>T (p.Pro344Ser) rs1408429022 0.00001
NM_005257.6(GATA6):c.1048C>G (p.Pro350Ala) rs964471147 0.00001
NM_005257.6(GATA6):c.1100G>C (p.Gly367Ala) rs1293318805 0.00001
NM_005257.6(GATA6):c.1103C>T (p.Ala368Val) rs1457725461 0.00001
NM_005257.6(GATA6):c.110C>T (p.Ser37Phe) rs776255080 0.00001
NM_005257.6(GATA6):c.1114G>A (p.Val372Met) rs1243661585 0.00001
NM_005257.6(GATA6):c.112C>A (p.Pro38Thr) rs769310811 0.00001
NM_005257.6(GATA6):c.1139T>C (p.Leu380Pro) rs1446505680 0.00001
NM_005257.6(GATA6):c.1263C>A (p.Asn421Lys) rs375015752 0.00001
NM_005257.6(GATA6):c.1303C>A (p.Pro435Thr) rs1182565719 0.00001
NM_005257.6(GATA6):c.1513T>C (p.Ser505Pro) rs746906542 0.00001
NM_005257.6(GATA6):c.155G>T (p.Arg52Leu) rs541150137 0.00001
NM_005257.6(GATA6):c.1624G>A (p.Gly542Ser) rs1568011554 0.00001
NM_005257.6(GATA6):c.1631C>T (p.Pro544Leu) rs767156756 0.00001
NM_005257.6(GATA6):c.1757C>T (p.Pro586Leu) rs749567667 0.00001
NM_005257.6(GATA6):c.187C>T (p.Pro63Ser) rs559705145 0.00001
NM_005257.6(GATA6):c.199A>T (p.Thr67Ser) rs923229630 0.00001
NM_005257.6(GATA6):c.200C>G (p.Thr67Arg) rs933199729 0.00001
NM_005257.6(GATA6):c.208G>A (p.Ala70Thr) rs779755261 0.00001
NM_005257.6(GATA6):c.269C>T (p.Ala90Val) rs1341980994 0.00001
NM_005257.6(GATA6):c.307G>C (p.Gly103Arg) rs749200220 0.00001
NM_005257.6(GATA6):c.364G>T (p.Ala122Ser) rs1245960637 0.00001
NM_005257.6(GATA6):c.383T>C (p.Leu128Pro) rs1381339538 0.00001
NM_005257.6(GATA6):c.472G>A (p.Gly158Ser) rs2033048695 0.00001
NM_005257.6(GATA6):c.507C>A (p.Phe169Leu) rs980861173 0.00001
NM_005257.6(GATA6):c.508G>A (p.Val170Met) rs1343278963 0.00001
NM_005257.6(GATA6):c.50C>G (p.Ala17Gly) rs1030316600 0.00001
NM_005257.6(GATA6):c.538G>A (p.Ala180Thr) rs897655941 0.00001
NM_005257.6(GATA6):c.595C>T (p.Pro199Ser) rs1428539753 0.00001
NM_005257.6(GATA6):c.605C>A (p.Pro202Gln) rs1176964829 0.00001
NM_005257.6(GATA6):c.61G>T (p.Ala21Ser) rs752129361 0.00001
NM_005257.6(GATA6):c.631G>A (p.Gly211Arg) rs1375177355 0.00001
NM_005257.6(GATA6):c.709A>G (p.Ser237Gly) rs1323110205 0.00001
NM_005257.6(GATA6):c.784C>T (p.Arg262Cys) rs1409189846 0.00001
NM_005257.6(GATA6):c.809C>T (p.Pro270Leu) rs1488181197 0.00001
NM_005257.6(GATA6):c.961G>C (p.Gly321Arg) rs1291923956 0.00001
NM_005257.6(GATA6):c.995A>G (p.His332Arg) rs1223505085 0.00001
NC_000008.10:g.(?_11351220)_(11710963_?)dup
NC_000008.10:g.(?_11560787)_(11616004_?)dup
NC_000008.10:g.(?_11565822)_(11566457_?)dup
NC_000008.10:g.(?_11606408)_(11615984_?)del
NC_000008.11:g.(?_11703278)_(11759996_?)dup
NC_000008.11:g.(?_11708303)_(11758594_?)dup
NC_000015.9:g.(?_96875335)_(96880851_?)dup
NC_000018.9:g.(?_19383858)_(19780786_?)dup
NC_000018.9:g.(?_19780599)_(19780786_?)dup
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_001308093.3(GATA4):c.-2_5del (p.Met1fs)
NM_001308093.3(GATA4):c.1000+5G>A
NM_001308093.3(GATA4):c.1001-3C>T
NM_001308093.3(GATA4):c.1003C>T (p.Pro335Ser) rs1188397343
NM_001308093.3(GATA4):c.1010G>A (p.Gly337Asp)
NM_001308093.3(GATA4):c.1012_1014del (p.Ser338del)
NM_001308093.3(GATA4):c.1013G>A (p.Ser338Asn)
NM_001308093.3(GATA4):c.1014del (p.Ser338fs) rs2130347583
NM_001308093.3(GATA4):c.1020C>G (p.Ser340Arg)
NM_001308093.3(GATA4):c.1027C>T (p.Pro343Ser)
NM_001308093.3(GATA4):c.1042TCCAGCAAC[1] (p.348SSN[1])
NM_001308093.3(GATA4):c.1067C>T (p.Thr356Ile)
NM_001308093.3(GATA4):c.1069A>G (p.Ser357Gly) rs1165825689
NM_001308093.3(GATA4):c.1069A>T (p.Ser357Cys) rs1165825689
NM_001308093.3(GATA4):c.106C>T (p.Pro36Ser)
NM_001308093.3(GATA4):c.1070G>C (p.Ser357Thr)
NM_001308093.3(GATA4):c.1073G>T (p.Ser358Ile)
NM_001308093.3(GATA4):c.1077C>G (p.Ser359Arg)
NM_001308093.3(GATA4):c.1081G>A (p.Glu361Lys)
NM_001308093.3(GATA4):c.1081G>C (p.Glu361Gln) rs141808522
NM_001308093.3(GATA4):c.1082A>G (p.Glu361Gly)
NM_001308093.3(GATA4):c.1090C>G (p.Pro364Ala)
NM_001308093.3(GATA4):c.1094T>C (p.Ile365Thr)
NM_001308093.3(GATA4):c.1099A>G (p.Thr367Ala)
NM_001308093.3(GATA4):c.1100C>G (p.Thr367Arg)
NM_001308093.3(GATA4):c.1105C>T (p.Pro369Ser)
NM_001308093.3(GATA4):c.1109G>C (p.Gly370Ala)
NM_001308093.3(GATA4):c.1109G>T (p.Gly370Val) rs146685461
NM_001308093.3(GATA4):c.1112T>G (p.Leu371Arg)
NM_001308093.3(GATA4):c.1120C>T (p.His374Tyr)
NM_001308093.3(GATA4):c.1123_1125del (p.Tyr375del) rs1585703515
NM_001308093.3(GATA4):c.1125C>A (p.Tyr375Ter)
NM_001308093.3(GATA4):c.1126G>T (p.Gly376Trp) rs149872786
NM_001308093.3(GATA4):c.1131C>G (p.His377Gln) rs116414842
NM_001308093.3(GATA4):c.1136G>A (p.Ser379Asn)
NM_001308093.3(GATA4):c.1147C>G (p.Gln383Glu)
NM_001308093.3(GATA4):c.1149G>C (p.Gln383His)
NM_001308093.3(GATA4):c.1150-3C>G
NM_001308093.3(GATA4):c.1155C>G (p.Phe385Leu) rs957671450
NM_001308093.3(GATA4):c.1166C>T (p.Ala389Val)
NM_001308093.3(GATA4):c.1175G>C (p.Gly392Ala)
NM_001308093.3(GATA4):c.1175G>T (p.Gly392Val) rs147093296
NM_001308093.3(GATA4):c.1178A>C (p.His393Pro)
NM_001308093.3(GATA4):c.1178A>G (p.His393Arg) rs766572598
NM_001308093.3(GATA4):c.1178A>T (p.His393Leu)
NM_001308093.3(GATA4):c.1181G>T (p.Gly394Val)
NM_001308093.3(GATA4):c.118C>T (p.Pro40Ser)
NM_001308093.3(GATA4):c.1198G>C (p.Val400Leu)
NM_001308093.3(GATA4):c.1198G>T (p.Val400Phe)
NM_001308093.3(GATA4):c.1199T>C (p.Val400Ala) rs2130355308
NM_001308093.3(GATA4):c.11G>A (p.Ser4Asn)
NM_001308093.3(GATA4):c.1201C>G (p.Leu401Val)
NM_001308093.3(GATA4):c.1208C>A (p.Ala403Asp) rs1563234610
NM_001308093.3(GATA4):c.1210C>A (p.Leu404Met)
NM_001308093.3(GATA4):c.1222C>G (p.Pro408Ala) rs1585706968
NM_001308093.3(GATA4):c.1223C>G (p.Pro408Arg) rs115099192
NM_001308093.3(GATA4):c.1225C>T (p.Gln409Ter) rs1802712072
NM_001308093.3(GATA4):c.1229G>A (p.Gly410Asp)
NM_001308093.3(GATA4):c.1232A>G (p.Tyr411Cys)
NM_001308093.3(GATA4):c.1232A>T (p.Tyr411Phe) rs909187176
NM_001308093.3(GATA4):c.1240C>T (p.Pro414Ser)
NM_001308093.3(GATA4):c.1241C>G (p.Pro414Arg)
NM_001308093.3(GATA4):c.1243G>C (p.Val415Leu)
NM_001308093.3(GATA4):c.125C>G (p.Pro42Arg) rs766590532
NM_001308093.3(GATA4):c.125C>T (p.Pro42Leu)
NM_001308093.3(GATA4):c.1268C>G (p.Ser423Cys) rs1343825404
NM_001308093.3(GATA4):c.1273C>G (p.Gln425Glu)
NM_001308093.3(GATA4):c.1285A>C (p.Asn429His) rs1286668690
NM_001308093.3(GATA4):c.1286A>G (p.Asn429Ser) rs76332456
NM_001308093.3(GATA4):c.1289G>A (p.Ser430Asn)
NM_001308093.3(GATA4):c.12C>A (p.Ser4Arg)
NM_001308093.3(GATA4):c.1301C>G (p.Ala434Gly)
NM_001308093.3(GATA4):c.1308T>A (p.Ser436Arg)
NM_001308093.3(GATA4):c.1311C>G (p.His437Gln) rs779684582
NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg) rs748737164
NM_001308093.3(GATA4):c.1315G>A (p.Asp439Asn) rs149351193
NM_001308093.3(GATA4):c.1315G>C (p.Asp439His) rs149351193
NM_001308093.3(GATA4):c.1318A>T (p.Ile440Leu) rs772619099
NM_001308093.3(GATA4):c.1319T>G (p.Ile440Arg)
NM_001308093.3(GATA4):c.1321A>G (p.Ile441Val) rs2130356211
NM_001308093.3(GATA4):c.1328C>T (p.Ala443Val) rs146017816
NM_001308093.3(GATA4):c.134C>T (p.Pro45Leu) rs2130067843
NM_001308093.3(GATA4):c.142G>A (p.Val48Met) rs773581495
NM_001308093.3(GATA4):c.143T>C (p.Val48Ala) rs1272999942
NM_001308093.3(GATA4):c.148G>C (p.Gly50Arg)
NM_001308093.3(GATA4):c.149G>C (p.Gly50Ala) rs570058215
NM_001308093.3(GATA4):c.175G>A (p.Ala59Thr)
NM_001308093.3(GATA4):c.179G>C (p.Gly60Ala)
NM_001308093.3(GATA4):c.182C>T (p.Ser61Phe)
NM_001308093.3(GATA4):c.184G>C (p.Ala62Pro)
NM_001308093.3(GATA4):c.190G>C (p.Gly64Arg)
NM_001308093.3(GATA4):c.191G>T (p.Gly64Val)
NM_001308093.3(GATA4):c.196G>A (p.Ala66Thr)
NM_001308093.3(GATA4):c.200C>T (p.Ser67Leu)
NM_001308093.3(GATA4):c.205G>A (p.Gly69Ser)
NM_001308093.3(GATA4):c.205G>T (p.Gly69Cys)
NM_001308093.3(GATA4):c.218G>T (p.Gly73Val)
NM_001308093.3(GATA4):c.221C>A (p.Ala74Asp)
NM_001308093.3(GATA4):c.22G>T (p.Ala8Ser) rs1386678141
NM_001308093.3(GATA4):c.230G>T (p.Gly77Val)
NM_001308093.3(GATA4):c.232G>T (p.Ala78Ser)
NM_001308093.3(GATA4):c.236G>C (p.Gly79Ala)
NM_001308093.3(GATA4):c.236G>T (p.Gly79Val)
NM_001308093.3(GATA4):c.248A>C (p.Gln83Pro)
NM_001308093.3(GATA4):c.251A>G (p.Gln84Arg) rs899093640
NM_001308093.3(GATA4):c.253G>T (p.Gly85Cys)
NM_001308093.3(GATA4):c.259C>G (p.Pro87Ala)
NM_001308093.3(GATA4):c.270_271delinsTA (p.Gln91Lys) rs2130069025
NM_001308093.3(GATA4):c.274G>A (p.Ala92Thr)
NM_001308093.3(GATA4):c.275C>A (p.Ala92Glu)
NM_001308093.3(GATA4):c.281C>T (p.Ala94Val)
NM_001308093.3(GATA4):c.286G>A (p.Gly96Arg) rs2130069132
NM_001308093.3(GATA4):c.290C>T (p.Ala97Val)
NM_001308093.3(GATA4):c.292G>A (p.Ala98Thr)
NM_001308093.3(GATA4):c.302C>T (p.Pro101Leu) rs1800009411
NM_001308093.3(GATA4):c.307C>G (p.Pro103Ala)
NM_001308093.3(GATA4):c.308C>G (p.Pro103Arg) rs2130069373
NM_001308093.3(GATA4):c.310G>A (p.Val104Met)
NM_001308093.3(GATA4):c.310G>C (p.Val104Leu)
NM_001308093.3(GATA4):c.316C>G (p.Pro106Ala) rs2130069427
NM_001308093.3(GATA4):c.317C>A (p.Pro106Gln)
NM_001308093.3(GATA4):c.317C>G (p.Pro106Arg)
NM_001308093.3(GATA4):c.31C>A (p.His11Asn) rs1350855665
NM_001308093.3(GATA4):c.326C>G (p.Ser109Cys) rs1554488532
NM_001308093.3(GATA4):c.32A>C (p.His11Pro)
NM_001308093.3(GATA4):c.330C>A (p.Phe110Leu) rs779273192
NM_001308093.3(GATA4):c.335G>C (p.Gly112Ala)
NM_001308093.3(GATA4):c.343G>T (p.Gly115Trp) rs1488801698
NM_001308093.3(GATA4):c.347C>T (p.Ser116Phe)
NM_001308093.3(GATA4):c.34G>T (p.Gly12Trp)
NM_001308093.3(GATA4):c.357CGC[2] (p.Ala125_Ala126del) rs1182566703
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) rs1182566703
NM_001308093.3(GATA4):c.358_393dup (p.Ala120_Ala131dup) rs1800012863
NM_001308093.3(GATA4):c.359C>T (p.Ala120Val)
NM_001308093.3(GATA4):c.360_374dup (p.Ala126_Arg127insAlaAlaAlaAlaAla)
NM_001308093.3(GATA4):c.364_378dup (p.Ala126_Arg127insAlaAlaAlaAlaAla)
NM_001308093.3(GATA4):c.367G>C (p.Ala123Pro)
NM_001308093.3(GATA4):c.368C>G (p.Ala123Gly)
NM_001308093.3(GATA4):c.369_374dup (p.Ala125_Ala126dup) rs1462657175
NM_001308093.3(GATA4):c.379C>G (p.Arg127Gly)
NM_001308093.3(GATA4):c.37C>T (p.Pro13Ser)
NM_001308093.3(GATA4):c.380G>T (p.Arg127Leu)
NM_001308093.3(GATA4):c.385G>A (p.Ala129Thr)
NM_001308093.3(GATA4):c.395A>G (p.Tyr132Cys)
NM_001308093.3(GATA4):c.399C>A (p.Ser133Arg) rs1362379796
NM_001308093.3(GATA4):c.400A>G (p.Ser134Gly)
NM_001308093.3(GATA4):c.400A>T (p.Ser134Cys) rs1295769704
NM_001308093.3(GATA4):c.404G>T (p.Gly135Val)
NM_001308093.3(GATA4):c.406G>A (p.Gly136Ser)
NM_001308093.3(GATA4):c.406G>C (p.Gly136Arg) rs1161266023
NM_001308093.3(GATA4):c.413C>A (p.Ala138Glu)
NM_001308093.3(GATA4):c.413C>G (p.Ala138Gly)
NM_001308093.3(GATA4):c.413C>T (p.Ala138Val)
NM_001308093.3(GATA4):c.416C>T (p.Ala139Val)
NM_001308093.3(GATA4):c.419G>T (p.Gly140Val)
NM_001308093.3(GATA4):c.424G>A (p.Gly142Ser) rs1585596441
NM_001308093.3(GATA4):c.427C>G (p.Leu143Val)
NM_001308093.3(GATA4):c.428_436dup (p.Leu143_Gly145dup) rs2130070508
NM_001308093.3(GATA4):c.430G>A (p.Ala144Thr)
NM_001308093.3(GATA4):c.437G>A (p.Arg146His)
NM_001308093.3(GATA4):c.439G>A (p.Glu147Lys) rs1800019519
NM_001308093.3(GATA4):c.43C>T (p.Pro15Ser) rs1799990782
NM_001308093.3(GATA4):c.441G>C (p.Glu147Asp)
NM_001308093.3(GATA4):c.443A>C (p.Gln148Pro) rs1800019742
NM_001308093.3(GATA4):c.443A>T (p.Gln148Leu) rs1800019742
NM_001308093.3(GATA4):c.448G>A (p.Gly150Arg)
NM_001308093.3(GATA4):c.448G>C (p.Gly150Arg)
NM_001308093.3(GATA4):c.451C>A (p.Arg151Ser)
NM_001308093.3(GATA4):c.454_455delinsTT (p.Ala152Phe) rs1800020370
NM_001308093.3(GATA4):c.46G>T (p.Gly16Cys)
NM_001308093.3(GATA4):c.470C>G (p.Ser157Cys)
NM_001308093.3(GATA4):c.476C>A (p.Ser159Tyr)
NM_001308093.3(GATA4):c.496A>G (p.Met166Val)
NM_001308093.3(GATA4):c.499G>A (p.Ala167Thr)
NM_001308093.3(GATA4):c.500C>T (p.Ala167Val)
NM_001308093.3(GATA4):c.508G>C (p.Gly170Arg) rs1800024355
NM_001308093.3(GATA4):c.512C>G (p.Ala171Gly)
NM_001308093.3(GATA4):c.525_527dup (p.Ala179_Ser180insAla)
NM_001308093.3(GATA4):c.525_530dup (p.Ala178_Ala179dup) rs1554488651
NM_001308093.3(GATA4):c.525_533dup (p.Ala177_Ala179dup) rs1372778585
NM_001308093.3(GATA4):c.526GCC[1] (p.Ala177_Ala179del) rs766802125
NM_001308093.3(GATA4):c.526GCC[5] (p.Ala179_Ser180insAla)
NM_001308093.3(GATA4):c.526GCC[6] (p.Ala179_Ser180insAlaAla)
NM_001308093.3(GATA4):c.526GCC[7] (p.Ala177_Ala179dup) rs766802125
NM_001308093.3(GATA4):c.529G>A (p.Ala177Thr)
NM_001308093.3(GATA4):c.532G>A (p.Ala178Thr)
NM_001308093.3(GATA4):c.532G>T (p.Ala178Ser) rs1800026498
NM_001308093.3(GATA4):c.533C>T (p.Ala178Val) rs1229035049
NM_001308093.3(GATA4):c.538_543dup (p.Ser180_Ala181dup) rs1800026723
NM_001308093.3(GATA4):c.541G>T (p.Ala181Ser)
NM_001308093.3(GATA4):c.542C>T (p.Ala181Val) rs1800027233
NM_001308093.3(GATA4):c.545G>A (p.Gly182Asp) rs1800027591
NM_001308093.3(GATA4):c.548C>T (p.Pro183Leu)
NM_001308093.3(GATA4):c.557G>T (p.Ser186Ile)
NM_001308093.3(GATA4):c.560C>G (p.Pro187Arg)
NM_001308093.3(GATA4):c.560C>T (p.Pro187Leu) rs1800028058
NM_001308093.3(GATA4):c.562G>T (p.Val188Phe)
NM_001308093.3(GATA4):c.570C>A (p.His190Gln)
NM_001308093.3(GATA4):c.577C>T (p.Pro193Ser) rs1392529691
NM_001308093.3(GATA4):c.580G>C (p.Gly194Arg)
NM_001308093.3(GATA4):c.584G>A (p.Arg195Gln)
NM_001308093.3(GATA4):c.584G>C (p.Arg195Pro) rs1334859780
NM_001308093.3(GATA4):c.586G>C (p.Ala196Pro)
NM_001308093.3(GATA4):c.590A>T (p.Asn197Ile) rs1050253618
NM_001308093.3(GATA4):c.607C>T (p.Pro203Ser)
NM_001308093.3(GATA4):c.610A>G (p.Asn204Asp)
NM_001308093.3(GATA4):c.611A>T (p.Asn204Ile)
NM_001308093.3(GATA4):c.615C>T (p.Leu205=)
NM_001308093.3(GATA4):c.616+3G>A rs1800033657
NM_001308093.3(GATA4):c.617T>G (p.Val206Gly)
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys) rs140892695
NM_001308093.3(GATA4):c.629A>T (p.Asp210Val)
NM_001308093.3(GATA4):c.631G>T (p.Asp211Tyr) rs377673676
NM_001308093.3(GATA4):c.635_637del (p.Phe212del)
NM_001308093.3(GATA4):c.638C>T (p.Ser213Leu)
NM_001308093.3(GATA4):c.64G>T (p.Gly22Cys)
NM_001308093.3(GATA4):c.65G>T (p.Gly22Val)
NM_001308093.3(GATA4):c.667G>A (p.Ala223Thr) rs1585684709
NM_001308093.3(GATA4):c.67C>T (p.Pro23Ser)
NM_001308093.3(GATA4):c.680C>T (p.Pro227Leu) rs2130306950
NM_001308093.3(GATA4):c.682C>T (p.Leu228Phe)
NM_001308093.3(GATA4):c.692G>A (p.Arg231Gln)
NM_001308093.3(GATA4):c.695A>T (p.Asp232Val)
NM_001308093.3(GATA4):c.701C>A (p.Thr234Lys)
NM_001308093.3(GATA4):c.70G>A (p.Gly24Ser)
NM_001308093.3(GATA4):c.710A>G (p.Tyr237Cys)
NM_001308093.3(GATA4):c.716G>T (p.Cys239Phe)
NM_001308093.3(GATA4):c.728G>A (p.Gly243Asp)
NM_001308093.3(GATA4):c.730C>G (p.Leu244Val)
NM_001308093.3(GATA4):c.740A>G (p.Lys247Arg)
NM_001308093.3(GATA4):c.743T>C (p.Met248Thr) rs1131691325
NM_001308093.3(GATA4):c.747C>A (p.Asn249Lys) rs140212153
NM_001308093.3(GATA4):c.748G>T (p.Gly250Cys) rs1431297203
NM_001308093.3(GATA4):c.74C>G (p.Ala25Gly)
NM_001308093.3(GATA4):c.758G>A (p.Arg253Gln)
NM_001308093.3(GATA4):c.761C>T (p.Pro254Leu) rs771792843
NM_001308093.3(GATA4):c.766A>G (p.Ile256Val) rs914253048
NM_001308093.3(GATA4):c.773C>G (p.Pro258Arg)
NM_001308093.3(GATA4):c.778C>G (p.Arg260Gly) rs1437389442
NM_001308093.3(GATA4):c.778C>T (p.Arg260Cys) rs1437389442
NM_001308093.3(GATA4):c.779G>A (p.Arg260His) rs1188422407
NM_001308093.3(GATA4):c.781C>T (p.Arg261Trp)
NM_001308093.3(GATA4):c.790G>A (p.Ala264Thr)
NM_001308093.3(GATA4):c.790G>T (p.Ala264Ser) rs201520087
NM_001308093.3(GATA4):c.794C>G (p.Ser265Cys) rs1563228364
NM_001308093.3(GATA4):c.797G>A (p.Arg266His)
NM_001308093.3(GATA4):c.7C>G (p.Gln3Glu)
NM_001308093.3(GATA4):c.802G>C (p.Val268Leu) rs116781972
NM_001308093.3(GATA4):c.82C>T (p.His28Tyr)
NM_001308093.3(GATA4):c.830C>G (p.Thr277Ser)
NM_001308093.3(GATA4):c.832A>C (p.Thr278Pro)
NM_001308093.3(GATA4):c.832A>G (p.Thr278Ala)
NM_001308093.3(GATA4):c.836C>T (p.Thr279Ile) rs1203275387
NM_001308093.3(GATA4):c.841A>T (p.Thr281Ser) rs1356876573
NM_001308093.3(GATA4):c.842C>T (p.Thr281Met) rs387906771
NM_001308093.3(GATA4):c.853C>T (p.Arg285Cys)
NM_001308093.3(GATA4):c.85G>A (p.Gly29Ser)
NM_001308093.3(GATA4):c.868G>A (p.Glu290Lys)
NM_001308093.3(GATA4):c.86_88del (p.Gly29del)
NM_001308093.3(GATA4):c.898A>G (p.Met300Val)
NM_001308093.3(GATA4):c.89C>T (p.Ala30Val)
NM_001308093.3(GATA4):c.912+4C>A
NM_001308093.3(GATA4):c.912+4C>T rs374161282
NM_001308093.3(GATA4):c.912+5G>T rs371005520
NM_001308093.3(GATA4):c.913-3C>T
NM_001308093.3(GATA4):c.920G>A (p.Arg307Lys) rs1554498327
NM_001308093.3(GATA4):c.923C>T (p.Pro308Leu)
NM_001308093.3(GATA4):c.931A>C (p.Met311Leu) rs387906772
NM_001308093.3(GATA4):c.934C>T (p.Arg312Trp) rs138404762
NM_001308093.3(GATA4):c.935G>A (p.Arg312Gln) rs1585698628
NM_001308093.3(GATA4):c.949C>G (p.Gln317Glu) rs56298569
NM_001308093.3(GATA4):c.956G>A (p.Arg319Lys) rs1554498346
NM_001308093.3(GATA4):c.961C>T (p.Arg321Trp) rs1282433424
NM_001308093.3(GATA4):c.962G>A (p.Arg321Gln) rs2130338262
NM_001308093.3(GATA4):c.973A>G (p.Asn325Asp) rs2130338330
NM_001308093.3(GATA4):c.990G>C (p.Lys330Asn)
NM_001308093.3(GATA4):c.991A>T (p.Thr331Ser)
NM_001308093.3(GATA4):c.992C>G (p.Thr331Arg) rs1563231799
NM_005257.6(GATA6):c.1000C>T (p.Pro334Ser)
NM_005257.6(GATA6):c.1015C>T (p.Pro339Ser) rs2033061691
NM_005257.6(GATA6):c.1019A>G (p.Tyr340Cys)
NM_005257.6(GATA6):c.1021G>T (p.Val341Leu)
NM_005257.6(GATA6):c.1024G>A (p.Gly342Arg)
NM_005257.6(GATA6):c.1024G>C (p.Gly342Arg) rs1468414837
NM_005257.6(GATA6):c.1025G>A (p.Gly342Glu) rs1433160408
NM_005257.6(GATA6):c.1031C>T (p.Pro344Leu) rs1598734418
NM_005257.6(GATA6):c.1051G>A (p.Ala351Thr) rs1462457750
NM_005257.6(GATA6):c.1054G>A (p.Gly352Arg) rs1369316608
NM_005257.6(GATA6):c.1066A>C (p.Thr356Pro)
NM_005257.6(GATA6):c.1070C>T (p.Pro357Leu)
NM_005257.6(GATA6):c.1089G>T (p.Gln363His) rs1253142325
NM_005257.6(GATA6):c.1096G>A (p.Ala366Thr)
NM_005257.6(GATA6):c.1099G>A (p.Gly367Arg)
NM_005257.6(GATA6):c.1105C>G (p.Pro369Ala)
NM_005257.6(GATA6):c.1106C>G (p.Pro369Arg)
NM_005257.6(GATA6):c.1108C>T (p.Leu370Phe) rs922570984
NM_005257.6(GATA6):c.1112C>G (p.Pro371Arg)
NM_005257.6(GATA6):c.1119_1133dup (p.Ala378_Asp379insArgGlyProSerAla)
NM_005257.6(GATA6):c.1135+6G>A
NM_005257.6(GATA6):c.1135+6G>T
NM_005257.6(GATA6):c.1142T>C (p.Leu381Pro) rs1389738061
NM_005257.6(GATA6):c.1157A>G (p.Glu386Gly) rs1567995562
NM_005257.6(GATA6):c.116T>C (p.Ile39Thr)
NM_005257.6(GATA6):c.1195C>T (p.Pro399Ser)
NM_005257.6(GATA6):c.1196C>T (p.Pro399Leu)
NM_005257.6(GATA6):c.119C>T (p.Ser40Phe) rs2033036579
NM_005257.6(GATA6):c.1217C>G (p.Thr406Ser)
NM_005257.6(GATA6):c.1246C>A (p.Leu416Ile)
NM_005257.6(GATA6):c.1246C>T (p.Leu416Phe) rs2033130661
NM_005257.6(GATA6):c.128C>A (p.Ser43Tyr)
NM_005257.6(GATA6):c.128C>G (p.Ser43Cys)
NM_005257.6(GATA6):c.128CCT[2] (p.Ser45del) rs1201519482
NM_005257.6(GATA6):c.1297C>T (p.Arg433Cys) rs2033131746
NM_005257.6(GATA6):c.1300G>C (p.Val434Leu)
NM_005257.6(GATA6):c.1301T>C (p.Val434Ala) rs2033131897
NM_005257.6(GATA6):c.130T>G (p.Ser44Ala) rs2143273972
NM_005257.6(GATA6):c.1313G>A (p.Arg438Gln)
NM_005257.6(GATA6):c.131C>T (p.Ser44Phe)
NM_005257.6(GATA6):c.1336A>G (p.Asn446Asp) rs2143300702
NM_005257.6(GATA6):c.1343A>C (p.His448Pro) rs1380534258
NM_005257.6(GATA6):c.1349C>T (p.Thr450Ile)
NM_005257.6(GATA6):c.134C>T (p.Ser45Phe)
NM_005257.6(GATA6):c.1350_1358del (p.Thr451_Thr453del) rs2033195426
NM_005257.6(GATA6):c.1373A>G (p.Asn458Ser) rs765926114
NM_005257.6(GATA6):c.1382G>T (p.Gly461Val)
NM_005257.6(GATA6):c.140C>G (p.Ser47Cys)
NM_005257.6(GATA6):c.1483C>T (p.Pro495Ser)
NM_005257.6(GATA6):c.1488G>T (p.Lys496Asn)
NM_005257.6(GATA6):c.148_159dup (p.Gly53_Pro54insGlyGluArgGly)
NM_005257.6(GATA6):c.1492A>G (p.Ile498Val)
NM_005257.6(GATA6):c.1506G>T (p.Lys502Asn) rs1598737982
NM_005257.6(GATA6):c.1515T>G (p.Ser505=) rs770405157
NM_005257.6(GATA6):c.1523G>A (p.Ser508Asn)
NM_005257.6(GATA6):c.1529A>G (p.Asn510Ser)
NM_005257.6(GATA6):c.1549A>G (p.Thr517Ala)
NM_005257.6(GATA6):c.1559C>T (p.Ser520Phe)
NM_005257.6(GATA6):c.155G>C (p.Arg52Pro) rs541150137
NM_005257.6(GATA6):c.1575T>G (p.Asp525Glu)
NM_005257.6(GATA6):c.157G>A (p.Gly53Ser) rs1311659713
NM_005257.6(GATA6):c.1609A>G (p.Thr537Ala)
NM_005257.6(GATA6):c.160C>G (p.Pro54Ala)
NM_005257.6(GATA6):c.160C>T (p.Pro54Ser)
NM_005257.6(GATA6):c.1618G>C (p.Gly540Arg)
NM_005257.6(GATA6):c.1621G>A (p.Ala541Thr) rs2143345732
NM_005257.6(GATA6):c.1622C>T (p.Ala541Val)
NM_005257.6(GATA6):c.1631C>A (p.Pro544Gln) rs767156756
NM_005257.6(GATA6):c.1634T>A (p.Val545Glu)
NM_005257.6(GATA6):c.1634T>G (p.Val545Gly)
NM_005257.6(GATA6):c.1636A>G (p.Met546Val)
NM_005257.6(GATA6):c.1638G>T (p.Met546Ile)
NM_005257.6(GATA6):c.163G>A (p.Gly55Ser)
NM_005257.6(GATA6):c.1653G>C (p.Glu551Asp) rs564934973
NM_005257.6(GATA6):c.1654A>G (p.Ser552Gly) rs747690300
NM_005257.6(GATA6):c.1660A>C (p.Asn554His)
NM_005257.6(GATA6):c.166G>A (p.Gly56Ser)
NM_005257.6(GATA6):c.1688C>G (p.Ser563Trp)
NM_005257.6(GATA6):c.16G>C (p.Gly6Arg) rs139750927
NM_005257.6(GATA6):c.1702C>T (p.Leu568Phe)
NM_005257.6(GATA6):c.1720C>G (p.Leu574Val)
NM_005257.6(GATA6):c.1723G>T (p.Ala575Ser)
NM_005257.6(GATA6):c.172A>G (p.Ser58Gly) rs924843423
NM_005257.6(GATA6):c.1754G>A (p.Arg585Gln) rs201707559
NM_005257.6(GATA6):c.1756C>G (p.Pro586Ala)
NM_005257.6(GATA6):c.1774C>G (p.Leu592Val) rs774669486
NM_005257.6(GATA6):c.1774CTGGCC[3] (p.Ala595_Ter596insLeuAla)
NM_005257.6(GATA6):c.1784C>T (p.Ala595Val) rs2143346650
NM_005257.6(GATA6):c.180C>G (p.Cys60Trp) rs1431278250
NM_005257.6(GATA6):c.182G>A (p.Gly61Glu)
NM_005257.6(GATA6):c.193C>A (p.Leu65Ile) rs2143274330
NM_005257.6(GATA6):c.196G>A (p.Asp66Asn)
NM_005257.6(GATA6):c.196G>C (p.Asp66His) rs554577705
NM_005257.6(GATA6):c.199A>G (p.Thr67Ala)
NM_005257.6(GATA6):c.19G>A (p.Gly7Ser)
NM_005257.6(GATA6):c.202G>C (p.Glu68Gln)
NM_005257.6(GATA6):c.217C>A (p.Pro73Thr)
NM_005257.6(GATA6):c.233T>C (p.Leu78Pro) rs1253034411
NM_005257.6(GATA6):c.296T>C (p.Val99Ala)
NM_005257.6(GATA6):c.2T>A (p.Met1Lys)
NM_005257.6(GATA6):c.308G>A (p.Gly103Glu) rs1207902692
NM_005257.6(GATA6):c.329A>G (p.Glu110Gly)
NM_005257.6(GATA6):c.32C>T (p.Pro11Leu) rs1598733637
NM_005257.6(GATA6):c.334_335delinsCG (p.Leu112Arg)
NM_005257.6(GATA6):c.351C>G (p.Asp117Glu)
NM_005257.6(GATA6):c.361G>A (p.Ala121Thr) rs2143275441
NM_005257.6(GATA6):c.364G>A (p.Ala122Thr) rs1245960637
NM_005257.6(GATA6):c.373A>G (p.Ser125Gly)
NM_005257.6(GATA6):c.37C>T (p.Arg13Cys)
NM_005257.6(GATA6):c.400G>A (p.Ala134Thr)
NM_005257.6(GATA6):c.401C>A (p.Ala134Asp)
NM_005257.6(GATA6):c.405G>T (p.Lys135Asn)
NM_005257.6(GATA6):c.422C>G (p.Pro141Arg) rs2033047742
NM_005257.6(GATA6):c.425A>G (p.Glu142Gly)
NM_005257.6(GATA6):c.431C>G (p.Pro144Arg)
NM_005257.6(GATA6):c.433G>A (p.Glu145Lys) rs1403238515
NM_005257.6(GATA6):c.433G>C (p.Glu145Gln) rs1403238515
NM_005257.6(GATA6):c.447G>C (p.Gln149His)
NM_005257.6(GATA6):c.454G>T (p.Ala152Ser)
NM_005257.6(GATA6):c.457G>T (p.Ala153Ser) rs1354600110
NM_005257.6(GATA6):c.460C>G (p.Leu154Val) rs2143275968
NM_005257.6(GATA6):c.475C>T (p.Pro159Ser)
NM_005257.6(GATA6):c.481G>A (p.Ala161Thr) rs559922666
NM_005257.6(GATA6):c.481G>T (p.Ala161Ser) rs559922666
NM_005257.6(GATA6):c.490G>A (p.Gly164Ser)
NM_005257.6(GATA6):c.499G>C (p.Gly167Arg) rs770251106
NM_005257.6(GATA6):c.503G>A (p.Gly168Asp) rs917494899
NM_005257.6(GATA6):c.511C>T (p.His171Tyr)
NM_005257.6(GATA6):c.518C>T (p.Ala173Val)
NM_005257.6(GATA6):c.524C>T (p.Ala175Val)
NM_005257.6(GATA6):c.52G>C (p.Gly18Arg) rs2033034160
NM_005257.6(GATA6):c.531_545del (p.Ala179_Ala183del)
NM_005257.6(GATA6):c.531_548del (p.Ala178_Ala183del) rs1198054146
NM_005257.6(GATA6):c.540GGC[4] (p.Ala183dup) rs762101807
NM_005257.6(GATA6):c.545C>G (p.Ala182Gly)
NM_005257.6(GATA6):c.557C>G (p.Pro186Arg) rs1385341551
NM_005257.6(GATA6):c.56C>A (p.Ala19Glu)
NM_005257.6(GATA6):c.584G>C (p.Gly195Ala)
NM_005257.6(GATA6):c.589A>G (p.Met197Val) rs1245355073
NM_005257.6(GATA6):c.591G>A (p.Met197Ile)
NM_005257.6(GATA6):c.592C>A (p.Leu198Met) rs387906814
NM_005257.6(GATA6):c.622T>A (p.Ser208Thr)
NM_005257.6(GATA6):c.629G>C (p.Ser210Thr) rs2143276783
NM_005257.6(GATA6):c.631G>C (p.Gly211Arg)
NM_005257.6(GATA6):c.637G>A (p.Ala213Thr)
NM_005257.6(GATA6):c.642C>G (p.Asn214Lys) rs1369843629
NM_005257.6(GATA6):c.646G>A (p.Ala216Thr)
NM_005257.6(GATA6):c.647C>G (p.Ala216Gly)
NM_005257.6(GATA6):c.655G>C (p.Ala219Pro)
NM_005257.6(GATA6):c.656C>A (p.Ala219Glu) rs2033054015
NM_005257.6(GATA6):c.667C>A (p.Pro223Thr)
NM_005257.6(GATA6):c.668C>T (p.Pro223Leu)
NM_005257.6(GATA6):c.670G>A (p.Gly224Ser)
NM_005257.6(GATA6):c.670G>T (p.Gly224Cys)
NM_005257.6(GATA6):c.67_68delinsTT (p.Asp23Phe)
NM_005257.6(GATA6):c.682G>A (p.Ala228Thr)
NM_005257.6(GATA6):c.686C>G (p.Ser229Trp) rs1420896186
NM_005257.6(GATA6):c.686C>T (p.Ser229Leu) rs1420896186
NM_005257.6(GATA6):c.698C>A (p.Pro233His) rs2143277046
NM_005257.6(GATA6):c.704A>T (p.Tyr235Phe)
NM_005257.6(GATA6):c.706G>A (p.Gly236Ser) rs904551659
NM_005257.6(GATA6):c.706G>C (p.Gly236Arg)
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) rs904551659
NM_005257.6(GATA6):c.721G>C (p.Ala241Pro) rs2143277140
NM_005257.6(GATA6):c.730G>A (p.Gly244Ser) rs1355067748
NM_005257.6(GATA6):c.734_754del (p.Gly245_Gly251del)
NM_005257.6(GATA6):c.734_754dup (p.Gly245_Gly251dup) rs1316111445
NM_005257.6(GATA6):c.740C>G (p.Ala247Gly) rs2033055492
NM_005257.6(GATA6):c.740C>T (p.Ala247Val)
NM_005257.6(GATA6):c.743G>A (p.Gly248Glu) rs1014382084
NM_005257.6(GATA6):c.749G>T (p.Gly250Val)
NM_005257.6(GATA6):c.766G>A (p.Ala256Thr) rs1555628783
NM_005257.6(GATA6):c.769G>A (p.Ala257Thr)
NM_005257.6(GATA6):c.76G>A (p.Ala26Thr)
NM_005257.6(GATA6):c.779C>T (p.Ser260Leu)
NM_005257.6(GATA6):c.782C>T (p.Ala261Val)
NM_005257.6(GATA6):c.794A>G (p.Tyr265Cys)
NM_005257.6(GATA6):c.797C>G (p.Ser266Cys) rs2143277461
NM_005257.6(GATA6):c.803G>C (p.Ser268Thr) rs2033057141
NM_005257.6(GATA6):c.806C>G (p.Pro269Arg)
NM_005257.6(GATA6):c.812T>C (p.Met271Thr)
NM_005257.6(GATA6):c.820G>T (p.Gly274Cys) rs2033057411
NM_005257.6(GATA6):c.826G>A (p.Ala276Thr) rs1555628811
NM_005257.6(GATA6):c.829C>T (p.Arg277Trp) rs2143277600
NM_005257.6(GATA6):c.834G>T (p.Glu278Asp) rs2033057637
NM_005257.6(GATA6):c.842G>C (p.Gly281Ala) rs2143277659
NM_005257.6(GATA6):c.844_876del (p.Tyr282_Gly292del)
NM_005257.6(GATA6):c.847G>A (p.Ala283Thr)
NM_005257.6(GATA6):c.851C>A (p.Ala284Glu) rs185325359
NM_005257.6(GATA6):c.862G>C (p.Gly288Arg) rs1268789855
NM_005257.6(GATA6):c.863G>A (p.Gly288Glu) rs2143277784
NM_005257.6(GATA6):c.866G>A (p.Gly289Asp)
NM_005257.6(GATA6):c.868G>A (p.Ala290Thr) rs2033058388
NM_005257.6(GATA6):c.868G>T (p.Ala290Ser)
NM_005257.6(GATA6):c.86C>A (p.Ala29Glu) rs1185015412
NM_005257.6(GATA6):c.883G>A (p.Gly295Ser)
NM_005257.6(GATA6):c.883GGC[4] (p.Gly297dup) rs1188366255
NM_005257.6(GATA6):c.886G>T (p.Gly296Cys)
NM_005257.6(GATA6):c.889G>A (p.Gly297Ser) rs2033058660
NM_005257.6(GATA6):c.889G>C (p.Gly297Arg)
NM_005257.6(GATA6):c.902C>A (p.Ala301Glu) rs2033058989
NM_005257.6(GATA6):c.913G>A (p.Gly305Ser)
NM_005257.6(GATA6):c.916C>T (p.Arg306Cys)
NM_005257.6(GATA6):c.91G>A (p.Glu31Lys) rs780160108
NM_005257.6(GATA6):c.91G>C (p.Glu31Gln) rs780160108
NM_005257.6(GATA6):c.923C>A (p.Pro308His)
NM_005257.6(GATA6):c.926A>G (p.Gln309Arg)
NM_005257.6(GATA6):c.929A>C (p.Tyr310Ser)
NM_005257.6(GATA6):c.947C>G (p.Ala316Gly)
NM_005257.6(GATA6):c.95C>T (p.Pro32Leu)
NM_005257.6(GATA6):c.969CCA[12] (p.His333_Pro334insHisHis)
NM_005257.6(GATA6):c.969CCA[5] (p.His329_His333del)
NM_005257.6(GATA6):c.969CCA[6] (p.His330_His333del) rs562588574
NM_005257.6(GATA6):c.969CCA[7] (p.His331_His333del) rs562588574
NM_005257.6(GATA6):c.969CCA[8] (p.His332_His333del) rs562588574
NM_005257.6(GATA6):c.98C>A (p.Ser33Tyr)
NM_005257.6(GATA6):c.991_992insTGG (p.His331delinsLeuAsp)
NM_005257.6(GATA6):c.993C>G (p.His331Gln) rs2143278462
NM_021005.4(NR2F2):c.1000G>C (p.Val334Leu) rs1474147673
NM_021005.4(NR2F2):c.1073C>T (p.Thr358Met)
NM_021005.4(NR2F2):c.1087C>A (p.Leu363Ile) rs1596432381
NM_021005.4(NR2F2):c.1094T>A (p.Leu365His)
NM_021005.4(NR2F2):c.1234G>T (p.Ala412Ser)
NM_021005.4(NR2F2):c.203G>A (p.Ser68Asn)
NM_021005.4(NR2F2):c.204C>G (p.Ser68Arg) rs1381103214
NM_021005.4(NR2F2):c.269A>G (p.His90Arg) rs2141166925
NM_021005.4(NR2F2):c.309C>G (p.Phe103Leu) rs1899174214
NM_021005.4(NR2F2):c.418C>T (p.Leu140Phe)
NM_021005.4(NR2F2):c.538G>A (p.Gly180Arg) rs2141169030
NM_021005.4(NR2F2):c.616A>C (p.Ile206Leu)
NM_021005.4(NR2F2):c.671T>A (p.Val224Asp) rs1899253390
NM_021005.4(NR2F2):c.682C>T (p.Arg228Trp) rs1899253743
NM_021005.4(NR2F2):c.691C>A (p.Pro231Thr) rs2141169249
NM_021005.4(NR2F2):c.709C>T (p.Gln237Ter) rs878855066
NM_021005.4(NR2F2):c.746G>A (p.Trp249Ter) rs1567138573
NM_021005.4(NR2F2):c.761T>C (p.Val254Ala)
NM_021005.4(NR2F2):c.948G>T (p.Lys316Asn) rs1899261470
NM_021005.4(NR2F2):c.95C>G (p.Pro32Arg)
NM_152381.6(XIRP2):c.3085T>A (p.Phe1029Ile) rs1695182274

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.