ClinVar Miner

List of variants studied for hypoparathyroidism-deafness-renal disease syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001002295.2(GATA3):c.*612G>A rs1058240 0.81149
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.*798G>A rs531077807 0.00064
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.*22G>A rs199951165 0.00019
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.241+8C>T rs376505863 0.00009
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.216G>T (p.Val72=) rs560531559 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.*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.57C>T (p.Leu19=) rs749900784 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.737G>C (p.Gly246Ala) rs548018172 0.00001
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.327C>T (p.Ala109=) rs1832681004
NM_001002295.2(GATA3):c.480C>G (p.Asp160Glu) rs143627754
NM_001002295.2(GATA3):c.492C>T (p.Asp164=) rs1832688600
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.708C>A (p.Pro236=) rs143582578

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