ClinVar Miner

List of variants studied for GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 511
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005257.6(GATA6):c.1620+7A>G rs3764962 0.20625
NM_005257.6(GATA6):c.1302+20C>T rs56314574 0.02932
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_005257.6(GATA6):c.1602A>G (p.Thr534=) rs146949786 0.00362
NM_005257.6(GATA6):c.222G>A (p.Pro74=) rs374402554 0.00327
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
NM_005257.6(GATA6):c.1350A>G (p.Thr450=) rs61731977 0.00093
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr) rs151176879 0.00091
NM_005257.6(GATA6):c.533C>T (p.Ala178Val) rs387906815 0.00087
NM_005257.6(GATA6):c.592C>G (p.Leu198Val) rs387906814 0.00068
NM_005257.6(GATA6):c.855G>T (p.Ala285=) rs1014349671 0.00060
NM_005257.6(GATA6):c.1135+9C>G rs76308670 0.00045
NM_005257.6(GATA6):c.1605A>G (p.Gln535=) rs117646477 0.00045
NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro) rs149569288 0.00039
NM_005257.6(GATA6):c.352C>T (p.Leu118Phe) rs368297251 0.00032
NM_005257.6(GATA6):c.62C>G (p.Ala21Gly) rs139666654 0.00032
NM_005257.6(GATA6):c.1516+17G>A rs371870484 0.00031
NM_005257.6(GATA6):c.849G>A (p.Ala283=) rs1000153828 0.00025
NM_005257.6(GATA6):c.183G>A (p.Gly61=) rs377217497 0.00022
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) rs904519303 0.00022
NM_005257.6(GATA6):c.627C>A (p.Gly209=) rs1051642564 0.00021
NM_005257.6(GATA6):c.1755A>C (p.Arg585=) rs971615402 0.00020
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala) rs146243018 0.00018
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_005257.6(GATA6):c.714A>C (p.Gly238=) rs1000227951 0.00012
NM_005257.6(GATA6):c.735G>A (p.Gly245=) rs1031755167 0.00012
NM_005257.6(GATA6):c.237G>C (p.Leu79=) rs772338637 0.00010
NM_005257.6(GATA6):c.259C>T (p.Pro87Ser) rs563978220 0.00010
NM_005257.6(GATA6):c.726T>C (p.Ala242=) rs1310939981 0.00010
NM_005257.6(GATA6):c.1779C>T (p.Ala593=) rs760578963 0.00009
NM_005257.6(GATA6):c.1136-20_1136-16del rs751625594 0.00008
NM_005257.6(GATA6):c.1620+6T>C rs200795241 0.00008
NM_005257.6(GATA6):c.123C>T (p.Ser41=) rs762641247 0.00007
NM_005257.6(GATA6):c.151G>A (p.Glu51Lys) rs770662152 0.00007
NM_005257.6(GATA6):c.16G>A (p.Gly6Ser) rs139750927 0.00007
NM_005257.6(GATA6):c.372C>T (p.Ala124=) rs532888783 0.00007
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.408G>T (p.Leu136=) rs546073071 0.00006
NM_005257.6(GATA6):c.660C>T (p.Gly220=) rs1385756157 0.00006
NM_005257.6(GATA6):c.768G>A (p.Ala256=) rs919012580 0.00006
NM_005257.6(GATA6):c.543G>C (p.Ala181=) rs1462466315 0.00005
NM_005257.6(GATA6):c.775G>A (p.Val259Ile) rs911752926 0.00005
NM_005257.6(GATA6):c.1302+3G>A rs896413516 0.00004
NM_005257.6(GATA6):c.1516+19C>T rs199658633 0.00004
NM_005257.6(GATA6):c.1628C>G (p.Ala543Gly) rs761668180 0.00004
NM_005257.6(GATA6):c.1734C>T (p.Ala578=) rs747397185 0.00004
NM_005257.6(GATA6):c.1754G>T (p.Arg585Leu) rs201707559 0.00004
NM_005257.6(GATA6):c.282T>A (p.Pro94=) rs374591296 0.00004
NM_005257.6(GATA6):c.477G>C (p.Pro159=) rs771297576 0.00004
NM_005257.6(GATA6):c.762A>G (p.Ser254=) rs1275066172 0.00004
NM_005257.6(GATA6):c.89G>A (p.Arg30Gln) rs756406083 0.00004
NM_005257.6(GATA6):c.999T>C (p.His333=) rs1317202692 0.00004
NM_005257.6(GATA6):c.1123G>A (p.Gly375Ser) rs954640705 0.00003
NM_005257.6(GATA6):c.1572T>C (p.Asp524=) rs199684979 0.00003
NM_005257.6(GATA6):c.1696G>A (p.Asp566Asn) rs947813106 0.00003
NM_005257.6(GATA6):c.786C>A (p.Arg262=) rs1437667524 0.00003
NM_005257.6(GATA6):c.949C>A (p.Arg317=) rs1249153916 0.00003
NM_005257.6(GATA6):c.1125T>A (p.Gly375=) rs1203711555 0.00002
NM_005257.6(GATA6):c.1173G>A (p.Val391=) rs1399740472 0.00002
NM_005257.6(GATA6):c.1223A>G (p.His408Arg) rs1205923643 0.00002
NM_005257.6(GATA6):c.1377C>T (p.Ala459=) rs765639422 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.534A>G (p.Ala178=) rs1166249324 0.00002
NM_005257.6(GATA6):c.555C>T (p.Ser185=) rs1337642807 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
NC_000018.10:g.22169190A>T rs916466917 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.1212C>T (p.Asp404=) rs749866394 0.00001
NM_005257.6(GATA6):c.1263C>A (p.Asn421Lys) rs375015752 0.00001
NM_005257.6(GATA6):c.1290G>T (p.Pro430=) rs1030890046 0.00001
NM_005257.6(GATA6):c.1303C>A (p.Pro435Thr) rs1182565719 0.00001
NM_005257.6(GATA6):c.1332T>C (p.Cys444=) rs2033195222 0.00001
NM_005257.6(GATA6):c.141C>T (p.Ser47=) rs754073585 0.00001
NM_005257.6(GATA6):c.1513T>C (p.Ser505Pro) rs746906542 0.00001
NM_005257.6(GATA6):c.1516+10C>T rs201544789 0.00001
NM_005257.6(GATA6):c.155G>T (p.Arg52Leu) rs541150137 0.00001
NM_005257.6(GATA6):c.156G>A (p.Arg52=) rs1228736787 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.1725C>T (p.Ala575=) rs200788504 0.00001
NM_005257.6(GATA6):c.1743G>A (p.Thr581=) rs1027770450 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.203A>T (p.Glu68Val) rs200483324 0.00001
NM_005257.6(GATA6):c.208G>A (p.Ala70Thr) rs779755261 0.00001
NM_005257.6(GATA6):c.261C>T (p.Pro87=) rs1293405632 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.337C>T (p.Leu113=) rs771752366 0.00001
NM_005257.6(GATA6):c.33G>A (p.Pro11=) rs773163815 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.459T>C (p.Ala153=) rs752220329 0.00001
NM_005257.6(GATA6):c.472G>A (p.Gly158Ser) rs2033048695 0.00001
NM_005257.6(GATA6):c.48C>A (p.Ala16=) rs764776127 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.525G>A (p.Ala175=) rs759587190 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.597C>T (p.Pro199=) rs1172457864 0.00001
NM_005257.6(GATA6):c.605C>A (p.Pro202Gln) rs1176964829 0.00001
NM_005257.6(GATA6):c.606G>A (p.Pro202=) rs1407999679 0.00001
NM_005257.6(GATA6):c.61G>T (p.Ala21Ser) rs752129361 0.00001
NM_005257.6(GATA6):c.621G>C (p.Gly207=) rs1288470498 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.729C>T (p.Gly243=) rs1323741166 0.00001
NM_005257.6(GATA6):c.777C>T (p.Val259=) rs1402116310 0.00001
NM_005257.6(GATA6):c.784C>T (p.Arg262Cys) rs1409189846 0.00001
NM_005257.6(GATA6):c.789C>T (p.Phe263=) rs1254802999 0.00001
NM_005257.6(GATA6):c.807G>T (p.Pro269=) rs1301479852 0.00001
NM_005257.6(GATA6):c.809C>T (p.Pro270Leu) rs1488181197 0.00001
NM_005257.6(GATA6):c.87G>A (p.Ala29=) rs1254633924 0.00001
NM_005257.6(GATA6):c.924C>T (p.Pro308=) rs1431203656 0.00001
NM_005257.6(GATA6):c.954G>C (p.Pro318=) rs1313279921 0.00001
NM_005257.6(GATA6):c.961G>C (p.Gly321Arg) rs1291923956 0.00001
NM_005257.6(GATA6):c.966G>A (p.Thr322=) rs2033060375 0.00001
NM_005257.6(GATA6):c.995A>G (p.His332Arg) rs1223505085 0.00001
NC_000018.10:g.(?_22168362)_(22172289_?)del
NC_000018.9:g.(?_19383858)_(19780786_?)dup
NC_000018.9:g.(?_19780599)_(19780786_?)dup
NM_005257.6(GATA6):c.1000C>T (p.Pro334Ser)
NM_005257.6(GATA6):c.1002G>A (p.Pro334=)
NM_005257.6(GATA6):c.1005C>T (p.Ser335=) rs2143278591
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.1050C>T (p.Pro350=) rs976781879
NM_005257.6(GATA6):c.1051G>A (p.Ala351Thr) rs1462457750
NM_005257.6(GATA6):c.1053C>G (p.Ala351=)
NM_005257.6(GATA6):c.1053C>T (p.Ala351=) rs1399574460
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.1086G>T (p.Leu362=)
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.1104C>T (p.Ala368=)
NM_005257.6(GATA6):c.1105C>G (p.Pro369Ala)
NM_005257.6(GATA6):c.1106C>G (p.Pro369Arg)
NM_005257.6(GATA6):c.1107G>A (p.Pro369=)
NM_005257.6(GATA6):c.1107G>C (p.Pro369=)
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+12G>C
NM_005257.6(GATA6):c.1135+14dup rs943255115
NM_005257.6(GATA6):c.1135+16C>T
NM_005257.6(GATA6):c.1135+2T>C
NM_005257.6(GATA6):c.1135+6G>A
NM_005257.6(GATA6):c.1135+6G>T
NM_005257.6(GATA6):c.1135+9C>T rs76308670
NM_005257.6(GATA6):c.1136-14C>T
NM_005257.6(GATA6):c.1136-19C>A
NM_005257.6(GATA6):c.1140G>A (p.Leu380=)
NM_005257.6(GATA6):c.1142T>C (p.Leu381Pro) rs1389738061
NM_005257.6(GATA6):c.1151_1155del (p.Leu384fs)
NM_005257.6(GATA6):c.1152G>T (p.Leu384=) rs1479772095
NM_005257.6(GATA6):c.1155C>G (p.Ser385=)
NM_005257.6(GATA6):c.1157A>G (p.Glu386Gly) rs1567995562
NM_005257.6(GATA6):c.1161C>T (p.Ser387=) rs1481597424
NM_005257.6(GATA6):c.116T>C (p.Ile39Thr)
NM_005257.6(GATA6):c.1170C>T (p.Cys390=) rs1192312578
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.1209G>A (p.Arg403=) rs2143289871
NM_005257.6(GATA6):c.1217C>G (p.Thr406Ser)
NM_005257.6(GATA6):c.1236C>T (p.Asn412=)
NM_005257.6(GATA6):c.1245G>T (p.Gly415=) rs1180175270
NM_005257.6(GATA6):c.1246C>A (p.Leu416Ile)
NM_005257.6(GATA6):c.1246C>T (p.Leu416Phe) rs2033130661
NM_005257.6(GATA6):c.1257G>A (p.Lys419=)
NM_005257.6(GATA6):c.1281C>T (p.Leu427=)
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.1299C>G (p.Arg433=) rs887805315
NM_005257.6(GATA6):c.129C>G (p.Ser43=)
NM_005257.6(GATA6):c.1300G>C (p.Val434Leu)
NM_005257.6(GATA6):c.1301T>C (p.Val434Ala) rs2033131897
NM_005257.6(GATA6):c.1302+12C>T
NM_005257.6(GATA6):c.1302+14G>A
NM_005257.6(GATA6):c.1302+20_1302+52del
NM_005257.6(GATA6):c.1303-13G>T
NM_005257.6(GATA6):c.1303-19G>A
NM_005257.6(GATA6):c.1303-6T>C rs1555629497
NM_005257.6(GATA6):c.1303-8G>C
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.1320T>A (p.Leu440=) rs146624465
NM_005257.6(GATA6):c.1320T>C (p.Leu440=) rs146624465
NM_005257.6(GATA6):c.1321G>T (p.Gly441Ter) rs2143300665
NM_005257.6(GATA6):c.1329C>G (p.Ser443=) rs768460903
NM_005257.6(GATA6):c.1329C>T (p.Ser443=) rs768460903
NM_005257.6(GATA6):c.1336A>G (p.Asn446Asp) rs2143300702
NM_005257.6(GATA6):c.1342C>T (p.His448Tyr)
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.1380G>A (p.Glu460=) rs2143300898
NM_005257.6(GATA6):c.1382G>T (p.Gly461Val)
NM_005257.6(GATA6):c.1385A>G (p.Glu462Gly)
NM_005257.6(GATA6):c.1389C>T (p.Pro463=)
NM_005257.6(GATA6):c.1398T>C (p.Asn466=)
NM_005257.6(GATA6):c.140C>G (p.Ser47Cys)
NM_005257.6(GATA6):c.1418_1424del (p.Lys473fs) rs2143300954
NM_005257.6(GATA6):c.1428+10G>A
NM_005257.6(GATA6):c.1428+9T>A rs751665524
NM_005257.6(GATA6):c.1429-17A>G
NM_005257.6(GATA6):c.1441C>A (p.Leu481Ile)
NM_005257.6(GATA6):c.1456_1468del (p.Glu486fs)
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs) rs1598737972
NM_005257.6(GATA6):c.1477C>T (p.Arg493Ter) rs1598737976
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.1516+15A>G rs901042088
NM_005257.6(GATA6):c.1516+20G>A
NM_005257.6(GATA6):c.1516+20G>C
NM_005257.6(GATA6):c.151G>T (p.Glu51Ter)
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.1578C>T (p.Cys526=) rs2033217814
NM_005257.6(GATA6):c.157G>A (p.Gly53Ser) rs1311659713
NM_005257.6(GATA6):c.1596C>A (p.Pro532=)
NM_005257.6(GATA6):c.1596C>G (p.Pro532=)
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.1617A>G (p.Ser539=)
NM_005257.6(GATA6):c.1618G>C (p.Gly540Arg)
NM_005257.6(GATA6):c.1620+18A>T rs2143304391
NM_005257.6(GATA6):c.1620+19T>C
NM_005257.6(GATA6):c.1620+7A>T
NM_005257.6(GATA6):c.1621-14C>T
NM_005257.6(GATA6):c.1621-15C>T
NM_005257.6(GATA6):c.1621-17T>C
NM_005257.6(GATA6):c.1621-20G>T
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.1647G>C (p.Ala549=)
NM_005257.6(GATA6):c.1653G>A (p.Glu551=) rs564934973
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.1665C>T (p.Pro555=)
NM_005257.6(GATA6):c.166G>A (p.Gly56Ser)
NM_005257.6(GATA6):c.1688C>G (p.Ser563Trp)
NM_005257.6(GATA6):c.1689G>A (p.Ser563=)
NM_005257.6(GATA6):c.16G>C (p.Gly6Arg) rs139750927
NM_005257.6(GATA6):c.1701G>A (p.Gly567=)
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.1728G>A (p.Ser576=)
NM_005257.6(GATA6):c.172A>G (p.Ser58Gly) rs924843423
NM_005257.6(GATA6):c.1749C>T (p.Ser583=) rs142079702
NM_005257.6(GATA6):c.1754G>A (p.Arg585Gln) rs201707559
NM_005257.6(GATA6):c.1756C>G (p.Pro586Ala)
NM_005257.6(GATA6):c.1764C>T (p.Ser588=) rs1333538423
NM_005257.6(GATA6):c.1770C>T (p.Cys590=)
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.1785C>G (p.Ala595=) rs766211079
NM_005257.6(GATA6):c.180C>G (p.Cys60Trp) rs1431278250
NM_005257.6(GATA6):c.180C>T (p.Cys60=)
NM_005257.6(GATA6):c.182G>A (p.Gly61Glu)
NM_005257.6(GATA6):c.186G>A (p.Thr62=)
NM_005257.6(GATA6):c.18C>A (p.Gly6=) rs2143273333
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.201G>C (p.Thr67=)
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.234G>A (p.Leu78=)
NM_005257.6(GATA6):c.273C>A (p.Pro91=)
NM_005257.6(GATA6):c.288G>T (p.Ala96=)
NM_005257.6(GATA6):c.291T>C (p.Pro97=)
NM_005257.6(GATA6):c.296T>C (p.Val99Ala)
NM_005257.6(GATA6):c.297C>T (p.Val99=) rs2143275034
NM_005257.6(GATA6):c.2T>A (p.Met1Lys)
NM_005257.6(GATA6):c.300G>T (p.Ala100=) rs767279089
NM_005257.6(GATA6):c.303C>T (p.Gly101=)
NM_005257.6(GATA6):c.308G>A (p.Gly103Glu) rs1207902692
NM_005257.6(GATA6):c.309G>C (p.Gly103=)
NM_005257.6(GATA6):c.321G>A (p.Ser107=)
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.336G>A (p.Leu112=)
NM_005257.6(GATA6):c.342G>A (p.Leu114=) rs2143275390
NM_005257.6(GATA6):c.351C>G (p.Asp117Glu)
NM_005257.6(GATA6):c.358C>T (p.Gln120Ter)
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.369C>T (p.Thr123=) rs747422213
NM_005257.6(GATA6):c.373A>G (p.Ser125Gly)
NM_005257.6(GATA6):c.37C>T (p.Arg13Cys)
NM_005257.6(GATA6):c.399C>T (p.Gly133=)
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.423C>G (p.Pro141=)
NM_005257.6(GATA6):c.425A>G (p.Glu142Gly)
NM_005257.6(GATA6):c.431C>G (p.Pro144Arg)
NM_005257.6(GATA6):c.432G>A (p.Pro144=)
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.43G>A (p.Gly15Arg) rs116262672
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.465C>T (p.Ser155=)
NM_005257.6(GATA6):c.474T>C (p.Gly158=)
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.48C>G (p.Ala16=) rs764776127
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.507C>T (p.Phe169=)
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.525G>T (p.Ala175=) rs759587190
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.564C>T (p.Tyr188=)
NM_005257.6(GATA6):c.56C>A (p.Ala19Glu)
NM_005257.6(GATA6):c.576C>T (p.Thr192=) rs2033051987
NM_005257.6(GATA6):c.57G>A (p.Ala19=) rs764489452
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.613C>T (p.Leu205=)
NM_005257.6(GATA6):c.616C>T (p.Gln206Ter)
NM_005257.6(GATA6):c.618G>A (p.Gln206=)
NM_005257.6(GATA6):c.621G>A (p.Gly207=)
NM_005257.6(GATA6):c.622T>A (p.Ser208Thr)
NM_005257.6(GATA6):c.627C>G (p.Gly209=)
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.648G>A (p.Ala216=)
NM_005257.6(GATA6):c.655G>C (p.Ala219Pro)
NM_005257.6(GATA6):c.656C>A (p.Ala219Glu) rs2033054015
NM_005257.6(GATA6):c.666C>T (p.His222=)
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.687G>C (p.Ser229=) rs1189580893
NM_005257.6(GATA6):c.698C>A (p.Pro233His) rs2143277046
NM_005257.6(GATA6):c.702A>C (p.Pro234=)
NM_005257.6(GATA6):c.704A>T (p.Tyr235Phe)
NM_005257.6(GATA6):c.705C>T (p.Tyr235=)
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.738C>G (p.Ala246=)
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.750C>A (p.Gly250=) rs1024528816
NM_005257.6(GATA6):c.750C>G (p.Gly250=)
NM_005257.6(GATA6):c.750C>T (p.Gly250=) rs1024528816
NM_005257.6(GATA6):c.759C>T (p.Gly253=)
NM_005257.6(GATA6):c.765C>A (p.Ala255=) rs926270539
NM_005257.6(GATA6):c.765C>G (p.Ala255=) rs926270539
NM_005257.6(GATA6):c.765C>T (p.Ala255=) rs926270539
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.771G>A (p.Ala257=)
NM_005257.6(GATA6):c.771G>T (p.Ala257=)
NM_005257.6(GATA6):c.779C>T (p.Ser260Leu)
NM_005257.6(GATA6):c.780G>C (p.Ser260=)
NM_005257.6(GATA6):c.780G>T (p.Ser260=) rs1157916092
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.798T>C (p.Ser266=) rs2143277468
NM_005257.6(GATA6):c.803G>C (p.Ser268Thr) rs2033057141
NM_005257.6(GATA6):c.806C>G (p.Pro269Arg)
NM_005257.6(GATA6):c.810C>T (p.Pro270=) rs2033057273
NM_005257.6(GATA6):c.812T>C (p.Met271Thr)
NM_005257.6(GATA6):c.819C>T (p.Asn273=) rs943267073
NM_005257.6(GATA6):c.820G>T (p.Gly274Cys) rs2033057411
NM_005257.6(GATA6):c.822C>T (p.Gly274=) rs1598734312
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.837G>T (p.Pro279=) rs1350572697
NM_005257.6(GATA6):c.838G>T (p.Gly280Ter) rs2033057699
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.867C>T (p.Gly289=)
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.879G>A (p.Val293=) rs1311556193
NM_005257.6(GATA6):c.879G>C (p.Val293=)
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.888C>T (p.Gly296=)
NM_005257.6(GATA6):c.889G>A (p.Gly297Ser) rs2033058660
NM_005257.6(GATA6):c.889G>C (p.Gly297Arg)
NM_005257.6(GATA6):c.900G>C (p.Leu300=) rs1060503826
NM_005257.6(GATA6):c.902C>A (p.Ala301Glu) rs2033058989
NM_005257.6(GATA6):c.906C>T (p.Ala302=)
NM_005257.6(GATA6):c.913G>A (p.Gly305Ser)
NM_005257.6(GATA6):c.916C>T (p.Arg306Cys)
NM_005257.6(GATA6):c.918C>G (p.Arg306=)
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.936G>T (p.Ser312=)
NM_005257.6(GATA6):c.945C>T (p.Ala315=)
NM_005257.6(GATA6):c.946G>C (p.Ala316Pro)
NM_005257.6(GATA6):c.947C>G (p.Ala316Gly)
NM_005257.6(GATA6):c.948G>A (p.Ala316=)
NM_005257.6(GATA6):c.954G>A (p.Pro318=)
NM_005257.6(GATA6):c.95C>T (p.Pro32Leu)
NM_005257.6(GATA6):c.969CCA[11] (p.His333dup) rs562588574
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.969CCA[9] (p.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_005257.6(GATA6):c.998_1000del (p.His333del) rs763204851

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.