ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 421
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
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_001308093.3(GATA4):c.348C>T (p.Ser116=) rs772532276 0.00044
NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro) rs149569288 0.00039
NM_001308093.3(GATA4):c.531C>A (p.Ala177=) rs573733348 0.00034
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_001308093.3(GATA4):c.786+8C>T rs371709162 0.00029
NM_001308093.3(GATA4):c.802G>A (p.Val268Met) rs116781972 0.00029
NM_021005.4(NR2F2):c.129C>G (p.Pro43=) rs551936462 0.00029
NM_001308094.2(GATA4):c.-6+2500T>C rs372004083 0.00027
NM_001308093.3(GATA4):c.616+15G>A rs767068839 0.00025
NM_005257.6(GATA6):c.849G>A (p.Ala283=) rs1000153828 0.00025
NM_001308093.3(GATA4):c.72C>G (p.Gly24=) rs746574040 0.00022
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_001308093.3(GATA4):c.1126G>A (p.Gly376Arg) rs149872786 0.00019
NM_001308093.3(GATA4):c.585G>C (p.Arg195=) rs1040398846 0.00019
NM_021005.4(NR2F2):c.816C>G (p.Ala272=) rs76163938 0.00019
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala) rs146243018 0.00018
NM_001308093.3(GATA4):c.1000+8A>G rs368991642 0.00017
NM_001308093.3(GATA4):c.1029C>T (p.Pro343=) rs368098911 0.00015
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_001308093.3(GATA4):c.246C>A (p.Thr82=) rs1037655842 0.00011
NM_001308093.3(GATA4):c.1152G>A (p.Thr384=) rs147958528 0.00010
NM_001308093.3(GATA4):c.15G>A (p.Leu5=) rs55635838 0.00010
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_001308093.3(GATA4):c.1167G>A (p.Ala389=) rs55968178 0.00009
NM_001308093.3(GATA4):c.867C>T (p.Gly289=) rs781143539 0.00009
NM_005257.6(GATA6):c.1779C>T (p.Ala593=) rs760578963 0.00009
NM_001308093.3(GATA4):c.106C>G (p.Pro36Ala) rs1431477414 0.00008
NM_005257.6(GATA6):c.1136-20_1136-16del rs751625594 0.00008
NM_001308093.3(GATA4):c.13T>C (p.Leu5=) rs55670878 0.00007
NM_001308093.3(GATA4):c.678C>T (p.Thr226=) rs759042604 0.00007
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_021005.4(NR2F2):c.357G>C (p.Arg119=) rs137861279 0.00007
NM_001308093.3(GATA4):c.127C>A (p.Arg43=) rs387906770 0.00006
NM_001308093.3(GATA4):c.330C>T (p.Phe110=) rs779273192 0.00006
NM_001308093.3(GATA4):c.609C>T (p.Pro203=) rs1210009123 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_001308093.3(GATA4):c.786+16G>A rs200555437 0.00005
NM_005257.6(GATA6):c.543G>C (p.Ala181=) rs1462466315 0.00005
NM_001308093.3(GATA4):c.1236G>A (p.Ala412=) rs771755685 0.00004
NM_001308093.3(GATA4):c.1311C>T (p.His437=) rs779684582 0.00004
NM_001308093.3(GATA4):c.720C>T (p.Asn240=) rs747431380 0.00004
NM_001308093.3(GATA4):c.747C>T (p.Asn249=) rs140212153 0.00004
NM_001308093.3(GATA4):c.789C>T (p.Ser263=) rs777744927 0.00004
NM_001308093.3(GATA4):c.957A>G (p.Arg319=) rs746390280 0.00004
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_021005.4(NR2F2):c.264C>G (p.Gly88=) rs757445345 0.00004
NM_001308093.3(GATA4):c.1206G>A (p.Ser402=) rs141909277 0.00003
NM_001308093.3(GATA4):c.762G>A (p.Pro254=) rs143454176 0.00003
NM_001308093.3(GATA4):c.930A>G (p.Ala310=) rs779911000 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_021005.4(NR2F2):c.843C>T (p.Ser281=) rs1006491294 0.00003
NM_001308093.3(GATA4):c.195C>T (p.Gly65=) rs752600136 0.00002
NM_001308093.3(GATA4):c.459C>T (p.Gly153=) rs1178980770 0.00002
NM_001308093.3(GATA4):c.486C>T (p.Tyr162=) rs1253695712 0.00002
NM_001308093.3(GATA4):c.786+15C>T rs374933423 0.00002
NM_001308093.3(GATA4):c.861G>A (p.Ala287=) rs757208344 0.00002
NM_001308093.3(GATA4):c.909C>T (p.His303=) rs201516339 0.00002
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_021005.4(NR2F2):c.443-5C>T rs374487006 0.00002
NM_001308093.3(GATA4):c.1001-13T>C rs913114491 0.00001
NM_001308093.3(GATA4):c.1008A>G (p.Ser336=) rs752425131 0.00001
NM_001308093.3(GATA4):c.1077C>T (p.Ser359=) rs375407669 0.00001
NM_001308093.3(GATA4):c.1095C>A (p.Ile365=) rs1554498776 0.00001
NM_001308093.3(GATA4):c.1104G>A (p.Glu368=) rs769775284 0.00001
NM_001308093.3(GATA4):c.1149+8C>T rs1490422997 0.00001
NM_001308093.3(GATA4):c.1150-7T>C rs776340600 0.00001
NM_001308093.3(GATA4):c.1161C>T (p.Val387=) rs372993566 0.00001
NM_001308093.3(GATA4):c.1200C>A (p.Val400=) rs778818575 0.00001
NM_001308093.3(GATA4):c.1242C>T (p.Pro414=) rs761007335 0.00001
NM_001308093.3(GATA4):c.159C>T (p.Tyr53=) rs1258554563 0.00001
NM_001308093.3(GATA4):c.336G>A (p.Gly112=) rs748572046 0.00001
NM_001308093.3(GATA4):c.375G>A (p.Ala125=) rs1368525776 0.00001
NM_001308093.3(GATA4):c.510C>A (p.Gly170=) rs1272768214 0.00001
NM_001308093.3(GATA4):c.576G>T (p.Leu192=) rs1189744811 0.00001
NM_001308093.3(GATA4):c.582C>T (p.Gly194=) rs1467767687 0.00001
NM_001308093.3(GATA4):c.588C>T (p.Ala196=) rs1060503829 0.00001
NM_001308093.3(GATA4):c.594G>A (p.Pro198=) rs1213779475 0.00001
NM_001308093.3(GATA4):c.616+18G>T rs1174507680 0.00001
NM_001308093.3(GATA4):c.645C>T (p.Gly215=) rs1411266373 0.00001
NM_001308093.3(GATA4):c.69C>T (p.Pro23=) rs1411452741 0.00001
NM_001308093.3(GATA4):c.732C>G (p.Leu244=) rs200443296 0.00001
NM_001308093.3(GATA4):c.768C>A (p.Ile256=) rs760250504 0.00001
NM_001308093.3(GATA4):c.786+11G>A rs1165880305 0.00001
NM_001308093.3(GATA4):c.855C>T (p.Arg285=) rs758475308 0.00001
NM_001308093.3(GATA4):c.906C>T (p.Leu302=) rs1289378857 0.00001
NM_001308093.3(GATA4):c.912+7G>T rs759872773 0.00001
NM_001308093.3(GATA4):c.969C>G (p.Pro323=) rs1802489642 0.00001
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_021005.4(NR2F2):c.1206C>T (p.Ser402=) rs757077299 0.00001
NM_021005.4(NR2F2):c.789C>T (p.Pro263=) rs1174849712 0.00001
NM_021005.4(NR2F2):c.882C>T (p.Ile294=) rs1163679972 0.00001
NM_021005.4(NR2F2):c.918C>T (p.His306=) rs751816358 0.00001
NM_021005.4(NR2F2):c.971-11C>T rs1208596248 0.00001
NM_001308093.3(GATA4):c.1000+17_1000+18del
NM_001308093.3(GATA4):c.1000+19A>G rs2130338672
NM_001308093.3(GATA4):c.1001-20C>G
NM_001308093.3(GATA4):c.1017G>A (p.Glu339=)
NM_001308093.3(GATA4):c.1035C>T (p.Ser345=) rs755482369
NM_001308093.3(GATA4):c.1053C>T (p.Ser351=)
NM_001308093.3(GATA4):c.1065C>T (p.Thr355=)
NM_001308093.3(GATA4):c.1068C>A (p.Thr356=) rs775324602
NM_001308093.3(GATA4):c.1089T>A (p.Arg363=) rs143385784
NM_001308093.3(GATA4):c.1089T>C (p.Arg363=) rs143385784
NM_001308093.3(GATA4):c.1101G>A (p.Thr367=) rs771381966
NM_001308093.3(GATA4):c.1101G>C (p.Thr367=) rs771381966
NM_001308093.3(GATA4):c.1116A>T (p.Ser372=) rs112435835
NM_001308093.3(GATA4):c.111C>A (p.Val37=) rs1585595173
NM_001308093.3(GATA4):c.1128G>A (p.Gly376=) rs781488882
NM_001308093.3(GATA4):c.1149+15T>G
NM_001308093.3(GATA4):c.1149+20C>T
NM_001308093.3(GATA4):c.1149+7G>A rs781457045
NM_001308093.3(GATA4):c.1149+7G>T rs781457045
NM_001308093.3(GATA4):c.1150-14T>C
NM_001308093.3(GATA4):c.1150-18G>A
NM_001308093.3(GATA4):c.1150-18G>C rs751207561
NM_001308093.3(GATA4):c.1150-20del
NM_001308093.3(GATA4):c.1150-8C>T
NM_001308093.3(GATA4):c.1188C>A (p.Ser396=)
NM_001308093.3(GATA4):c.1188C>T (p.Ser396=)
NM_001308093.3(GATA4):c.1209C>T (p.Ala403=) rs2130355423
NM_001308093.3(GATA4):c.1218C>T (p.Leu406=)
NM_001308093.3(GATA4):c.1221C>G (p.Ser407=) rs2130355480
NM_001308093.3(GATA4):c.1224A>G (p.Pro408=)
NM_001308093.3(GATA4):c.1254T>C (p.Ser418=) rs1060503828
NM_001308093.3(GATA4):c.1296C>G (p.Val432=)
NM_001308093.3(GATA4):c.129G>A (p.Arg43=) rs1563199849
NM_001308093.3(GATA4):c.129G>T (p.Arg43=) rs1563199849
NM_001308093.3(GATA4):c.12C>T (p.Ser4=)
NM_001308093.3(GATA4):c.1302C>T (p.Ala434=)
NM_001308093.3(GATA4):c.1314G>A (p.Gly438=)
NM_001308093.3(GATA4):c.1328C>G (p.Ala443Gly) rs146017816
NM_001308093.3(GATA4):c.135C>G (p.Pro45=) rs1297614525
NM_001308093.3(GATA4):c.151C>T (p.Leu51=)
NM_001308093.3(GATA4):c.174C>A (p.Gly58=)
NM_001308093.3(GATA4):c.174C>T (p.Gly58=)
NM_001308093.3(GATA4):c.177G>A (p.Ala59=)
NM_001308093.3(GATA4):c.183T>C (p.Ser61=)
NM_001308093.3(GATA4):c.186G>A (p.Ala62=) rs1466381420
NM_001308093.3(GATA4):c.195C>A (p.Gly65=)
NM_001308093.3(GATA4):c.204C>A (p.Gly68=) rs1800003368
NM_001308093.3(GATA4):c.219G>C (p.Gly73=) rs1057052962
NM_001308093.3(GATA4):c.219G>T (p.Gly73=)
NM_001308093.3(GATA4):c.222C>A (p.Ala74=)
NM_001308093.3(GATA4):c.222C>G (p.Ala74=)
NM_001308093.3(GATA4):c.243G>C (p.Gly81=)
NM_001308093.3(GATA4):c.246C>G (p.Thr82=) rs1037655842
NM_001308093.3(GATA4):c.24C>G (p.Ala8=)
NM_001308093.3(GATA4):c.24C>T (p.Ala8=)
NM_001308093.3(GATA4):c.270C>T (p.Ser90=)
NM_001308093.3(GATA4):c.273G>A (p.Gln91=) rs1585595804
NM_001308093.3(GATA4):c.276G>A (p.Ala92=)
NM_001308093.3(GATA4):c.300C>A (p.Thr100=) rs1585595889
NM_001308093.3(GATA4):c.303G>A (p.Pro101=) rs1585595911
NM_001308093.3(GATA4):c.306G>T (p.Pro102=) rs1336667597
NM_001308093.3(GATA4):c.309G>T (p.Pro103=)
NM_001308093.3(GATA4):c.315G>A (p.Ser105=) rs1329688744
NM_001308093.3(GATA4):c.321C>G (p.Arg107=)
NM_001308093.3(GATA4):c.333G>A (p.Pro111=) rs1331416104
NM_001308093.3(GATA4):c.342C>T (p.Thr114=)
NM_001308093.3(GATA4):c.357C>G (p.Ala119=) rs2130069809
NM_001308093.3(GATA4):c.366C>A (p.Ala122=)
NM_001308093.3(GATA4):c.366C>T (p.Ala122=) rs1471365872
NM_001308093.3(GATA4):c.369T>C (p.Ala123=)
NM_001308093.3(GATA4):c.369T>G (p.Ala123=)
NM_001308093.3(GATA4):c.36G>A (p.Gly12=)
NM_001308093.3(GATA4):c.378C>T (p.Ala126=)
NM_001308093.3(GATA4):c.387T>A (p.Ala129=)
NM_001308093.3(GATA4):c.390G>A (p.Ala130=) rs2130070163
NM_001308093.3(GATA4):c.423G>A (p.Ala141=) rs1404734578
NM_001308093.3(GATA4):c.427C>T (p.Leu143=) rs2130070594
NM_001308093.3(GATA4):c.429G>C (p.Leu143=)
NM_001308093.3(GATA4):c.432G>T (p.Ala144=) rs1356013644
NM_001308093.3(GATA4):c.438C>G (p.Arg146=)
NM_001308093.3(GATA4):c.441G>A (p.Glu147=) rs1800019637
NM_001308093.3(GATA4):c.444G>A (p.Gln148=) rs1352635163
NM_001308093.3(GATA4):c.456C>T (p.Ala152=)
NM_001308093.3(GATA4):c.465G>A (p.Ala155=)
NM_001308093.3(GATA4):c.474C>T (p.Tyr158=)
NM_001308093.3(GATA4):c.480C>T (p.Ser160=) rs2130071100
NM_001308093.3(GATA4):c.495C>T (p.Tyr165=)
NM_001308093.3(GATA4):c.501C>G (p.Ala167=)
NM_001308093.3(GATA4):c.516C>T (p.Ser172=)
NM_001308093.3(GATA4):c.525A>T (p.Ala175=)
NM_001308093.3(GATA4):c.543C>A (p.Ala181=) rs544097659
NM_001308093.3(GATA4):c.543C>G (p.Ala181=) rs544097659
NM_001308093.3(GATA4):c.543C>T (p.Ala181=) rs544097659
NM_001308093.3(GATA4):c.546C>T (p.Gly182=) rs2130071849
NM_001308093.3(GATA4):c.552C>T (p.Phe184=)
NM_001308093.3(GATA4):c.561G>A (p.Pro187=)
NM_001308093.3(GATA4):c.561G>T (p.Pro187=)
NM_001308093.3(GATA4):c.567G>A (p.Leu189=) rs1554488672
NM_001308093.3(GATA4):c.594G>T (p.Pro198=) rs1213779475
NM_001308093.3(GATA4):c.597C>G (p.Ala199=)
NM_001308093.3(GATA4):c.601C>A (p.Arg201=)
NM_001308093.3(GATA4):c.603A>G (p.Arg201=)
NM_001308093.3(GATA4):c.616+10A>C
NM_001308093.3(GATA4):c.616+15G>C rs767068839
NM_001308093.3(GATA4):c.616+17G>C
NM_001308093.3(GATA4):c.617-12C>A rs763950464
NM_001308093.3(GATA4):c.617-13C>T
NM_001308093.3(GATA4):c.639A>C (p.Ser213=)
NM_001308093.3(GATA4):c.63C>G (p.Gly21=)
NM_001308093.3(GATA4):c.657C>T (p.Val219=)
NM_001308093.3(GATA4):c.678C>A (p.Thr226=)
NM_001308093.3(GATA4):c.681G>A (p.Pro227=)
NM_001308093.3(GATA4):c.684C>G (p.Leu228=) rs1563227410
NM_001308093.3(GATA4):c.699G>C (p.Gly233=) rs2130307080
NM_001308093.3(GATA4):c.702G>C (p.Thr234=) rs55788387
NM_001308093.3(GATA4):c.72C>T (p.Gly24=)
NM_001308093.3(GATA4):c.765C>T (p.Leu255=)
NM_001308093.3(GATA4):c.786+10T>G
NM_001308093.3(GATA4):c.786+17C>T
NM_001308093.3(GATA4):c.786+9G>A
NM_001308093.3(GATA4):c.786+9G>T rs752147603
NM_001308093.3(GATA4):c.787-11C>T rs1802226812
NM_001308093.3(GATA4):c.787-20A>G rs2130312704
NM_001308093.3(GATA4):c.840C>T (p.Thr280=) rs141114164
NM_001308093.3(GATA4):c.846G>C (p.Leu282=)
NM_001308093.3(GATA4):c.84C>T (p.His28=)
NM_001308093.3(GATA4):c.852C>G (p.Arg284=)
NM_001308093.3(GATA4):c.858T>C (p.Asn286=)
NM_001308093.3(GATA4):c.879C>T (p.Cys293=) rs2130313407
NM_001308093.3(GATA4):c.903G>A (p.Lys301=) rs1585687961
NM_001308093.3(GATA4):c.912+11C>T
NM_001308093.3(GATA4):c.912+17C>T
NM_001308093.3(GATA4):c.912+19C>G
NM_001308093.3(GATA4):c.912+19C>T
NM_001308093.3(GATA4):c.912+7G>C
NM_001308093.3(GATA4):c.912+9G>A
NM_001308093.3(GATA4):c.913-14T>C
NM_001308093.3(GATA4):c.913-16A>C
NM_001308093.3(GATA4):c.913-16A>G rs1802484971
NM_001308093.3(GATA4):c.913-18T>G
NM_001308093.3(GATA4):c.913-19T>A
NM_001308093.3(GATA4):c.913-4C>T rs947982256
NM_001308093.3(GATA4):c.913-8C>A
NM_001308093.3(GATA4):c.921G>A (p.Arg307=)
NM_001308093.3(GATA4):c.934C>A (p.Arg312=) rs138404762
NM_001308093.3(GATA4):c.93C>A (p.Gly31=)
NM_001308093.3(GATA4):c.963G>A (p.Arg321=) rs2130338269
NM_001308093.3(GATA4):c.966G>A (p.Lys322=) rs995668697
NM_001308093.3(GATA4):c.978G>T (p.Leu326=) rs939153862
NM_001308093.3(GATA4):c.999A>C (p.Ala333=) rs1554498361
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
NM_021005.4(NR2F2):c.1008C>T (p.Ser336=) rs767004289
NM_021005.4(NR2F2):c.150C>T (p.Ser50=)
NM_021005.4(NR2F2):c.210G>A (p.Lys70=) rs1899171814
NM_021005.4(NR2F2):c.237C>T (p.Cys79=)
NM_021005.4(NR2F2):c.276C>T (p.Gly92=) rs1332151769
NM_021005.4(NR2F2):c.36G>A (p.Gln12=) rs2141166624
NM_021005.4(NR2F2):c.414G>A (p.Lys138=) rs1373249033
NM_021005.4(NR2F2):c.456C>T (p.Gly152=)
NM_021005.4(NR2F2):c.468G>T (p.Pro156=) rs746596432
NM_021005.4(NR2F2):c.648C>A (p.Ala216=)
NM_021005.4(NR2F2):c.687C>T (p.Asn229=)
NM_021005.4(NR2F2):c.819C>T (p.Ala273=)
NM_021005.4(NR2F2):c.879G>A (p.Arg293=)
NM_021005.4(NR2F2):c.958C>T (p.Leu320=) rs1596428579

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