ClinVar Miner

List of variants reported as likely benign 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: 199
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HGVS dbSNP gnomAD frequency
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
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.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.849G>A (p.Ala283=) rs1000153828 0.00025
NM_005257.6(GATA6):c.183G>A (p.Gly61=) rs377217497 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.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.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.123C>T (p.Ser41=) rs762641247 0.00007
NM_005257.6(GATA6):c.151G>A (p.Glu51Lys) rs770662152 0.00007
NM_005257.6(GATA6):c.372C>T (p.Ala124=) rs532888783 0.00007
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.1734C>T (p.Ala578=) rs747397185 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.999T>C (p.His333=) rs1317202692 0.00004
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.1377C>T (p.Ala459=) rs765639422 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.1212C>T (p.Asp404=) rs749866394 0.00001
NM_005257.6(GATA6):c.1290G>T (p.Pro430=) rs1030890046 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.1516+10C>T rs201544789 0.00001
NM_005257.6(GATA6):c.156G>A (p.Arg52=) rs1228736787 0.00001
NM_005257.6(GATA6):c.1743G>A (p.Thr581=) rs1027770450 0.00001
NM_005257.6(GATA6):c.203A>T (p.Glu68Val) rs200483324 0.00001
NM_005257.6(GATA6):c.261C>T (p.Pro87=) rs1293405632 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.459T>C (p.Ala153=) rs752220329 0.00001
NM_005257.6(GATA6):c.48C>A (p.Ala16=) rs764776127 0.00001
NM_005257.6(GATA6):c.525G>A (p.Ala175=) rs759587190 0.00001
NM_005257.6(GATA6):c.597C>T (p.Pro199=) rs1172457864 0.00001
NM_005257.6(GATA6):c.606G>A (p.Pro202=) rs1407999679 0.00001
NM_005257.6(GATA6):c.621G>C (p.Gly207=) rs1288470498 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.789C>T (p.Phe263=) rs1254802999 0.00001
NM_005257.6(GATA6):c.807G>T (p.Pro269=) rs1301479852 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.966G>A (p.Thr322=) rs2033060375 0.00001
NM_005257.6(GATA6):c.1002G>A (p.Pro334=)
NM_005257.6(GATA6):c.1005C>T (p.Ser335=) rs2143278591
NM_005257.6(GATA6):c.1050C>T (p.Pro350=) rs976781879
NM_005257.6(GATA6):c.1053C>G (p.Ala351=)
NM_005257.6(GATA6):c.1053C>T (p.Ala351=) rs1399574460
NM_005257.6(GATA6):c.1086G>T (p.Leu362=)
NM_005257.6(GATA6):c.1104C>T (p.Ala368=)
NM_005257.6(GATA6):c.1107G>A (p.Pro369=)
NM_005257.6(GATA6):c.1107G>C (p.Pro369=)
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+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.1152G>T (p.Leu384=) rs1479772095
NM_005257.6(GATA6):c.1155C>G (p.Ser385=)
NM_005257.6(GATA6):c.1161C>T (p.Ser387=) rs1481597424
NM_005257.6(GATA6):c.1170C>T (p.Cys390=) rs1192312578
NM_005257.6(GATA6):c.1209G>A (p.Arg403=) rs2143289871
NM_005257.6(GATA6):c.1236C>T (p.Asn412=)
NM_005257.6(GATA6):c.1245G>T (p.Gly415=) rs1180175270
NM_005257.6(GATA6):c.1257G>A (p.Lys419=)
NM_005257.6(GATA6):c.1281C>T (p.Leu427=)
NM_005257.6(GATA6):c.1299C>G (p.Arg433=) rs887805315
NM_005257.6(GATA6):c.129C>G (p.Ser43=)
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.1320T>A (p.Leu440=) rs146624465
NM_005257.6(GATA6):c.1320T>C (p.Leu440=) rs146624465
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.1380G>A (p.Glu460=) rs2143300898
NM_005257.6(GATA6):c.1389C>T (p.Pro463=)
NM_005257.6(GATA6):c.1398T>C (p.Asn466=)
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.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.1578C>T (p.Cys526=) rs2033217814
NM_005257.6(GATA6):c.1596C>A (p.Pro532=)
NM_005257.6(GATA6):c.1596C>G (p.Pro532=)
NM_005257.6(GATA6):c.1617A>G (p.Ser539=)
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.1647G>C (p.Ala549=)
NM_005257.6(GATA6):c.1665C>T (p.Pro555=)
NM_005257.6(GATA6):c.1689G>A (p.Ser563=)
NM_005257.6(GATA6):c.1701G>A (p.Gly567=)
NM_005257.6(GATA6):c.1728G>A (p.Ser576=)
NM_005257.6(GATA6):c.1749C>T (p.Ser583=) rs142079702
NM_005257.6(GATA6):c.1764C>T (p.Ser588=) rs1333538423
NM_005257.6(GATA6):c.1770C>T (p.Cys590=)
NM_005257.6(GATA6):c.1785C>G (p.Ala595=) rs766211079
NM_005257.6(GATA6):c.180C>T (p.Cys60=)
NM_005257.6(GATA6):c.186G>A (p.Thr62=)
NM_005257.6(GATA6):c.18C>A (p.Gly6=) rs2143273333
NM_005257.6(GATA6):c.201G>C (p.Thr67=)
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.297C>T (p.Val99=) rs2143275034
NM_005257.6(GATA6):c.300G>T (p.Ala100=) rs767279089
NM_005257.6(GATA6):c.303C>T (p.Gly101=)
NM_005257.6(GATA6):c.309G>C (p.Gly103=)
NM_005257.6(GATA6):c.321G>A (p.Ser107=)
NM_005257.6(GATA6):c.336G>A (p.Leu112=)
NM_005257.6(GATA6):c.342G>A (p.Leu114=) rs2143275390
NM_005257.6(GATA6):c.369C>T (p.Thr123=) rs747422213
NM_005257.6(GATA6):c.399C>T (p.Gly133=)
NM_005257.6(GATA6):c.423C>G (p.Pro141=)
NM_005257.6(GATA6):c.432G>A (p.Pro144=)
NM_005257.6(GATA6):c.43G>A (p.Gly15Arg) rs116262672
NM_005257.6(GATA6):c.465C>T (p.Ser155=)
NM_005257.6(GATA6):c.474T>C (p.Gly158=)
NM_005257.6(GATA6):c.48C>G (p.Ala16=) rs764776127
NM_005257.6(GATA6):c.507C>T (p.Phe169=)
NM_005257.6(GATA6):c.525G>T (p.Ala175=) rs759587190
NM_005257.6(GATA6):c.564C>T (p.Tyr188=)
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.613C>T (p.Leu205=)
NM_005257.6(GATA6):c.618G>A (p.Gln206=)
NM_005257.6(GATA6):c.621G>A (p.Gly207=)
NM_005257.6(GATA6):c.627C>G (p.Gly209=)
NM_005257.6(GATA6):c.648G>A (p.Ala216=)
NM_005257.6(GATA6):c.666C>T (p.His222=)
NM_005257.6(GATA6):c.687G>C (p.Ser229=) rs1189580893
NM_005257.6(GATA6):c.702A>C (p.Pro234=)
NM_005257.6(GATA6):c.705C>T (p.Tyr235=)
NM_005257.6(GATA6):c.738C>G (p.Ala246=)
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.771G>A (p.Ala257=)
NM_005257.6(GATA6):c.771G>T (p.Ala257=)
NM_005257.6(GATA6):c.780G>C (p.Ser260=)
NM_005257.6(GATA6):c.780G>T (p.Ser260=) rs1157916092
NM_005257.6(GATA6):c.798T>C (p.Ser266=) rs2143277468
NM_005257.6(GATA6):c.810C>T (p.Pro270=) rs2033057273
NM_005257.6(GATA6):c.819C>T (p.Asn273=) rs943267073
NM_005257.6(GATA6):c.822C>T (p.Gly274=) rs1598734312
NM_005257.6(GATA6):c.837G>T (p.Pro279=) rs1350572697
NM_005257.6(GATA6):c.867C>T (p.Gly289=)
NM_005257.6(GATA6):c.879G>A (p.Val293=) rs1311556193
NM_005257.6(GATA6):c.879G>C (p.Val293=)
NM_005257.6(GATA6):c.888C>T (p.Gly296=)
NM_005257.6(GATA6):c.900G>C (p.Leu300=) rs1060503826
NM_005257.6(GATA6):c.906C>T (p.Ala302=)
NM_005257.6(GATA6):c.918C>G (p.Arg306=)
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.948G>A (p.Ala316=)
NM_005257.6(GATA6):c.954G>A (p.Pro318=)
NM_005257.6(GATA6):c.969CCA[11] (p.His333dup) rs562588574
NM_005257.6(GATA6):c.969CCA[9] (p.His333del) rs562588574
NM_005257.6(GATA6):c.998_1000del (p.His333del) rs763204851

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