ClinVar Miner

List of variants reported as likely benign for atrioventricular septal defect 5 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 179
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.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.1303-6T>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.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.1621-20G>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.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.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.234G>A (p.Leu78=)
NM_005257.6(GATA6):c.273C>A (p.Pro91=)
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.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.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>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.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.888C>T (p.Gly296=)
NM_005257.6(GATA6):c.900G>C (p.Leu300=) rs1060503826
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.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

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.