ClinVar Miner

List of variants in gene GATA2 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.15C>G (p.Pro5=) rs1573858 0.68160
NM_032638.5(GATA2):c.1018-19C>T rs11708606 0.17884
NM_032638.5(GATA2):c.490G>A (p.Ala164Thr) rs2335052 0.17829
NM_032638.5(GATA2):c.229+127C>T rs4577488 0.17609
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp) rs191501191 0.00327
NM_032638.5(GATA2):c.748C>G (p.Pro250Ala) rs78245253 0.00309
NM_032638.5(GATA2):c.66C>G (p.Pro22=) rs113384352 0.00264
NM_032638.5(GATA2):c.-5C>G rs374415484 0.00260
NM_032638.5(GATA2):c.333C>T (p.His111=) rs148554346 0.00228
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_032638.5(GATA2):c.279G>A (p.Pro93=) rs142993548 0.00051
NM_032638.5(GATA2):c.1173A>G (p.Glu391=) rs145076941 0.00041
NM_032638.5(GATA2):c.729C>T (p.His243=) rs369673069 0.00016
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg) rs753645971 0.00009
NM_032638.5(GATA2):c.978T>C (p.Asn326=) rs769794900 0.00008
NM_032638.5(GATA2):c.189C>T (p.Pro63=) rs763735447 0.00007
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu) rs146554939 0.00006
NM_032638.5(GATA2):c.213C>T (p.Ser71=) rs759513417 0.00005
NM_032638.5(GATA2):c.1143+9G>A rs533617078 0.00004
NM_032638.5(GATA2):c.1347C>A (p.Ser449=) rs150052821 0.00003
NM_032638.5(GATA2):c.480C>T (p.Thr160=) rs199640729 0.00003
NM_032638.5(GATA2):c.1017+8C>T rs200848213 0.00002
NM_032638.5(GATA2):c.1370C>T (p.Thr457Met) rs139415862 0.00002
NM_032638.5(GATA2):c.669G>A (p.Met223Ile) rs140382420 0.00002
NM_032638.5(GATA2):c.927C>T (p.Asp309=) rs750077677 0.00002
NM_032638.5(GATA2):c.1020G>A (p.Ser340=) rs370166358 0.00001
NM_032638.5(GATA2):c.1038C>T (p.Gly346=) rs1175250743 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_032638.5(GATA2):c.1143+13C>T rs112111696 0.00001
NM_032638.5(GATA2):c.1230G>T (p.Gly410=) rs1461907039 0.00001
NM_032638.5(GATA2):c.182C>T (p.Ala61Val) rs375349195 0.00001
NM_032638.5(GATA2):c.186C>G (p.Asn62Lys) rs751200779 0.00001
NM_032638.5(GATA2):c.707T>C (p.Met236Thr) rs61754578 0.00001
NM_032638.5(GATA2):c.753C>T (p.Ser251=) rs1450460950 0.00001
NM_032638.5(GATA2):c.787G>A (p.Gly263Arg) rs587778378 0.00001
NM_032638.5(GATA2):c.971A>G (p.Lys324Arg) rs1480450110 0.00001
NM_032638.5(GATA2):c.-4G>T
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_032638.5(GATA2):c.1017+2T>A rs1576746830
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1018-2A>C rs1576745322
NM_032638.5(GATA2):c.1021del (p.Ala341fs) rs1576745308
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.1035C>G (p.Ala345=) rs371599112
NM_032638.5(GATA2):c.1036_1056dup (p.Gly346_Cys352dup) rs1576745241
NM_032638.5(GATA2):c.1052A>G (p.Asn351Ser) rs1576745252
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1128C>A (p.Tyr376Ter) rs750890699
NM_032638.5(GATA2):c.1144-1G>C rs1576744604
NM_032638.5(GATA2):c.1159_1160dup (p.Met388fs) rs1576744575
NM_032638.5(GATA2):c.1165_1170del (p.Lys389_Lys390del) rs1576744556
NM_032638.5(GATA2):c.1186C>G (p.Arg396Gly) rs1576744529
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) rs1576744529
NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln) rs1553770434
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.1194G>A (p.Arg398=)
NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg) rs1576744275
NM_032638.5(GATA2):c.299_300delinsTT (p.Gly100Val) rs1060500084
NM_032638.5(GATA2):c.338A>G (p.His113Arg) rs1576749120
NM_032638.5(GATA2):c.405_409delinsGTA (p.Gly136fs) rs1576749014
NM_032638.5(GATA2):c.524C>G (p.Pro175Arg) rs755939655
NM_032638.5(GATA2):c.540A>C (p.Glu180Asp)
NM_032638.5(GATA2):c.554_628delinsTAGCACCACGGGGGCT (p.Pro185fs) rs1576748609
NM_032638.5(GATA2):c.561dup (p.Thr188fs) rs1576748738
NM_032638.5(GATA2):c.57G>T (p.Ala19=) rs2107673691
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala) rs373477245
NM_032638.5(GATA2):c.599del (p.Gly200fs) rs768767517
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_032638.5(GATA2):c.610C>T (p.Arg204Ter) rs1576748638
NM_032638.5(GATA2):c.649_653dup (p.Thr218_Glu219insTer) rs1553770949
NM_032638.5(GATA2):c.64C>A (p.Pro22Thr) rs1172590651
NM_032638.5(GATA2):c.655dup (p.Glu219fs) rs1576748582
NM_032638.5(GATA2):c.785G>A (p.Ser262Asn) rs1305082777
NM_032638.5(GATA2):c.802G>T (p.Gly268Ter) rs764747992
NM_032638.5(GATA2):c.844C>T (p.Gln282Ter) rs1576748357
NM_032638.5(GATA2):c.849C>T (p.Arg283=)
NM_032638.5(GATA2):c.857C>T (p.Ala286Val) rs797045592
NM_032638.5(GATA2):c.872-5T>C rs886038417
NM_032638.5(GATA2):c.890del (p.Asn297fs) rs1576746931
NM_032638.5(GATA2):c.905C>T (p.Ala302Val) rs1237462942

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