ClinVar Miner

List of variants in gene GATA3 studied for autosomal anomaly

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_001002295.2(GATA3):c.*612G>A rs1058240 0.81149
NM_001002295.2(GATA3):c.925-27C>T rs422628 0.76775
NM_001002295.2(GATA3):c.-251G>A rs10905277 0.42864
NM_001002295.2(GATA3):c.*517A>G rs9746 0.16581
NM_001002295.2(GATA3):c.621C>T (p.Ala207=) rs2229359 0.05137
NM_001002295.2(GATA3):c.-60C>T rs11567887 0.04369
NM_001002295.2(GATA3):c.606T>C (p.Arg202=) rs2228254 0.03693
NM_001002295.2(GATA3):c.*93C>T rs2229360 0.03683
NM_001002295.2(GATA3):c.-58C>T rs412359 0.03619
NM_001002295.2(GATA3):c.1257G>A (p.Thr419=) rs11567941 0.03143
NM_001002295.2(GATA3):c.*1066C>T rs11255509 0.02420
NM_001002295.2(GATA3):c.-49C>T rs11567942 0.01056
NM_001002295.2(GATA3):c.*987T>G rs183890714 0.00440
NM_001002295.2(GATA3):c.573C>T (p.Pro191=) rs35508267 0.00407
NM_001002295.2(GATA3):c.-48G>T rs554517990 0.00344
NM_001002295.2(GATA3):c.-359G>A rs138512915 0.00332
NM_001002295.2(GATA3):c.*491A>G rs138815232 0.00283
NM_001002295.2(GATA3):c.*664C>T rs192494656 0.00195
NM_001002295.2(GATA3):c.-69G>A rs28395794 0.00147
NM_001002295.2(GATA3):c.-351C>T rs34628951 0.00117
NM_001002295.2(GATA3):c.1179C>T (p.Asn393=) rs138679257 0.00090
NM_001002295.2(GATA3):c.*26C>G rs200946839 0.00082
NM_001002295.2(GATA3):c.-264G>T rs35971003 0.00077
NM_001002295.2(GATA3):c.-95G>T rs369825935 0.00074
NM_001002295.2(GATA3):c.1050+19G>A rs150545188 0.00072
NM_001002295.2(GATA3):c.*798G>A rs531077807 0.00064
NM_001002295.2(GATA3):c.294C>T (p.Asp98=) rs144221016 0.00039
NM_001002295.2(GATA3):c.-495G>C rs556347150 0.00030
NM_001002295.2(GATA3):c.*575A>C rs552915242 0.00029
NM_001002295.2(GATA3):c.375C>T (p.Gly125=) rs142451494 0.00029
NM_001002295.2(GATA3):c.330C>T (p.Ser110=) rs111978415 0.00027
NM_001002295.2(GATA3):c.*22G>A rs199951165 0.00019
NM_001002295.2(GATA3):c.591G>A (p.Glu197=) rs372630189 0.00018
NM_001002295.2(GATA3):c.*383T>G rs116910852 0.00017
NM_001002295.2(GATA3):c.*952G>A rs773450577 0.00014
NM_001002295.2(GATA3):c.990G>A (p.Arg330=) rs374947324 0.00013
NM_001002295.2(GATA3):c.72G>A (p.Pro24=) rs202168967 0.00011
NM_001002295.2(GATA3):c.*656G>A rs929190496 0.00008
NM_001002295.2(GATA3):c.870C>T (p.Leu290=) rs575091 0.00007
NM_001002295.2(GATA3):c.-40G>A rs201178566 0.00006
NM_001002295.2(GATA3):c.840G>C (p.Thr280=) rs144796042 0.00006
NM_001002295.2(GATA3):c.*857A>T rs886047304 0.00004
NM_001002295.2(GATA3):c.*105A>G rs886047300 0.00003
NM_001002295.2(GATA3):c.*746C>T rs545858251 0.00003
NM_001002295.2(GATA3):c.-369-11C>T rs886047297 0.00003
NM_001002295.2(GATA3):c.1186G>A (p.Ala396Thr) rs200935603 0.00003
NM_001002295.2(GATA3):c.359C>T (p.Thr120Met) rs750735308 0.00003
NM_001002295.2(GATA3):c.948G>A (p.Thr316=) rs12572959 0.00003
NM_001002295.2(GATA3):c.*1029C>T rs530772797 0.00002
NM_001002295.2(GATA3):c.*1072C>A rs886047306 0.00002
NM_001002295.2(GATA3):c.-561G>T rs1486145282 0.00002
NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met) rs374919553 0.00002
NM_001002295.2(GATA3):c.57C>T (p.Leu19=) rs749900784 0.00002
NM_001002295.2(GATA3):c.605G>A (p.Arg202His) rs767671768 0.00002
NM_001002295.2(GATA3):c.631G>A (p.Ala211Thr) rs778421571 0.00002
NM_001002295.2(GATA3):c.*267G>A rs886047301 0.00001
NM_001002295.2(GATA3):c.*320T>C rs1003189936 0.00001
NM_001002295.2(GATA3):c.-148A>G rs886047299 0.00001
NM_001002295.2(GATA3):c.1173G>A (p.Ser391=) rs150229374 0.00001
NM_001002295.2(GATA3):c.1223C>T (p.Ser408Leu) rs752977342 0.00001
NM_001002295.2(GATA3):c.1266G>A (p.Pro422=) rs541782074 0.00001
NM_001002295.2(GATA3):c.436G>A (p.Ala146Thr) rs752779081 0.00001
NM_001002295.2(GATA3):c.489G>A (p.Pro163=) rs766774125 0.00001
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu) rs1485724723 0.00001
NM_001002295.2(GATA3):c.737G>C (p.Gly246Ala) rs548018172 0.00001
GATA3, 250-KB DEL
GATA3, 900-KB DEL
NM_001002295.2(GATA3):c.*264_*265dup rs3839918
NM_001002295.2(GATA3):c.*265dup rs3839918
NM_001002295.2(GATA3):c.*356G>A rs886047302
NM_001002295.2(GATA3):c.*588C>A rs1832985629
NM_001002295.2(GATA3):c.*592G>A rs1832985780
NM_001002295.2(GATA3):c.*598G>A rs187150410
NM_001002295.2(GATA3):c.*647A>G rs563624409
NM_001002295.2(GATA3):c.*714G>A rs886047303
NM_001002295.2(GATA3):c.*747G>A rs899862408
NM_001002295.2(GATA3):c.*863T>A rs1832990708
NM_001002295.2(GATA3):c.*895T>G rs886047305
NM_001002295.2(GATA3):c.-287G>A rs886047298
NM_001002295.2(GATA3):c.-370+28del rs397846644
NM_001002295.2(GATA3):c.-370+28dup rs397846644
NM_001002295.2(GATA3):c.-413C>T rs540527013
NM_001002295.2(GATA3):c.-503_-502dup rs60098638
NM_001002295.2(GATA3):c.-80C>T rs569360560
NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr) rs387906621
NM_001002295.2(GATA3):c.1050+2T>C rs1832899364
NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys) rs1564405163
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr) rs1564405163
NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser) rs104894165
NM_001002295.2(GATA3):c.108_109del (p.Met36fs) rs1588374920
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) rs104894164
NM_001002295.2(GATA3):c.1256C>T (p.Thr419Met)
NM_001002295.2(GATA3):c.1306C>G (p.Pro436Ala) rs1832975214
NM_001002295.2(GATA3):c.257G>A (p.Arg86His) rs1245137314
NM_001002295.2(GATA3):c.273T>A (p.His91Gln) rs2131488207
NM_001002295.2(GATA3):c.324del (p.Ala109fs) rs1832680700
NM_001002295.2(GATA3):c.327C>T (p.Ala109=) rs1832681004
NM_001002295.2(GATA3):c.332_333dup (p.Trp112fs)
NM_001002295.2(GATA3):c.352_353del (p.Ser118fs) rs2131488650
NM_001002295.2(GATA3):c.373_375dup (p.Gly125dup) rs547425013
NM_001002295.2(GATA3):c.381_388del (p.Gly128fs) rs2131488863
NM_001002295.2(GATA3):c.389del (p.Leu130fs) rs2131488953
NM_001002295.2(GATA3):c.404del (p.Pro135fs) rs772396478
NM_001002295.2(GATA3):c.431del (p.Gly144fs) rs1588377948
NM_001002295.2(GATA3):c.431dup (p.His145fs) rs1588377948
NM_001002295.2(GATA3):c.465_513del (p.Thr156fs)
NM_001002295.2(GATA3):c.473C>T (p.Pro158Leu)
NM_001002295.2(GATA3):c.478del (p.Asp160fs) rs1588378126
NM_001002295.2(GATA3):c.480C>G (p.Asp160Glu) rs143627754
NM_001002295.2(GATA3):c.480C>T (p.Asp160=) rs143627754
NM_001002295.2(GATA3):c.492C>T (p.Asp164=) rs1832688600
NM_001002295.2(GATA3):c.52G>A (p.Val18Met)
NM_001002295.2(GATA3):c.639_648del (p.Ser214fs)
NM_001002295.2(GATA3):c.675C>A (p.Tyr225Ter) rs763575837
NM_001002295.2(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228fs) rs878853222
NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr) rs148835259
NM_001002295.2(GATA3):c.706C>G (p.Pro236Ala) rs148835259
NM_001002295.2(GATA3):c.706C>T (p.Pro236Ser) rs148835259
NM_001002295.2(GATA3):c.708C>A (p.Pro236=) rs143582578
NM_001002295.2(GATA3):c.708del (p.Ser237fs) rs771019738
NM_001002295.2(GATA3):c.708dup (p.Ser237fs) rs771019738
NM_001002295.2(GATA3):c.724G>A (p.Gly242Ser) rs11567901
NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs) rs1832698457
NM_001002295.2(GATA3):c.778+1G>A rs2131491404
NM_001002295.2(GATA3):c.779-1G>C rs2131500277
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser) rs767074039
NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg) rs104894163
NM_001002295.2(GATA3):c.827G>T (p.Arg276Leu)
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter) rs104894162
NM_001002295.2(GATA3):c.859G>A (p.Ala287Thr)
NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp) rs746122348
NM_001002295.2(GATA3):c.896G>T (p.Arg299Leu) rs2131501118
NM_001002295.2(GATA3):c.901delinsAACCCT (p.Leu301fs) rs2131501178
NM_001002295.2(GATA3):c.924+1G>A
NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC rs387906551
NM_001002295.2(GATA3):c.924+3_924+6del
NM_001002295.2(GATA3):c.925-3_925-2del rs763236375
NM_001002295.2(GATA3):c.947_958del (p.Thr316_Ala319del) rs2131511647
NM_001002295.2(GATA3):c.951del (p.Cys318fs) rs2131511714
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser) rs1832898282

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