ClinVar Miner

List of variants in gene GATA2 studied for Deafness-lymphedema-leukemia syndrome

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Gene type:
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Total variants: 93
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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.*200C>T rs10934857 0.22831
NM_032638.5(GATA2):c.*482C>T rs3803 0.17918
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.*882T>A rs45463895 0.05352
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_032638.5(GATA2):c.*546C>T rs45463801 0.02933
NM_032638.5(GATA2):c.*715G>A rs73203415 0.01920
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_032638.5(GATA2):c.*410C>T rs45479594 0.01476
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_032638.5(GATA2):c.-276T>G rs563914744 0.00818
NM_032638.5(GATA2):c.-46+13C>T rs559062253 0.00574
NM_032638.5(GATA2):c.*508G>A rs116559910 0.00392
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.*183C>T rs45598538 0.00308
NM_032638.5(GATA2):c.66C>G (p.Pro22=) rs113384352 0.00264
NM_032638.5(GATA2):c.333C>T (p.His111=) rs148554346 0.00228
NM_032638.5(GATA2):c.*1080G>A rs115799885 0.00220
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_032638.5(GATA2):c.*1229A>G rs142582404 0.00040
NM_032638.5(GATA2):c.*352C>T rs938268244 0.00024
NM_032638.5(GATA2):c.1416G>A (p.Pro472=) rs376805544 0.00022
NM_032638.5(GATA2):c.*94C>T rs79350619 0.00019
NM_032638.5(GATA2):c.*1544A>G rs886057921 0.00017
NM_032638.5(GATA2):c.*190C>T rs112947643 0.00017
NM_032638.5(GATA2):c.*581G>A rs758714164 0.00016
NM_032638.5(GATA2):c.*24G>A rs201159232 0.00012
NM_032638.5(GATA2):c.-193C>T rs886057935 0.00011
NM_032638.5(GATA2):c.42G>T (p.Pro14=) rs372722885 0.00011
NM_032638.5(GATA2):c.*32C>T rs374495352 0.00010
NM_032638.5(GATA2):c.114G>A (p.Gln38=) rs775573177 0.00008
NM_032638.5(GATA2):c.*1146A>G rs776209943 0.00006
NM_032638.5(GATA2):c.*174G>A rs373617135 0.00006
NM_032638.5(GATA2):c.*427C>T rs77448517 0.00006
NM_032638.5(GATA2):c.*13C>T rs750895467 0.00004
NM_032638.5(GATA2):c.*570C>T rs868031897 0.00004
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro) rs746362966 0.00004
NM_032638.5(GATA2):c.*988T>G rs1349296825 0.00003
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_032638.5(GATA2):c.1347C>A (p.Ser449=) rs150052821 0.00003
NM_032638.5(GATA2):c.1017+8C>T rs200848213 0.00002
NM_032638.5(GATA2):c.*101G>A rs886057926 0.00001
NM_032638.5(GATA2):c.*379C>T rs1324129609 0.00001
NM_032638.5(GATA2):c.*420G>A rs557984557 0.00001
NM_032638.5(GATA2):c.*84A>G rs886057927 0.00001
NM_032638.5(GATA2):c.1023C>T (p.Ala341=) rs376360090 0.00001
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr) rs751285156 0.00001
NM_032638.5(GATA2):c.1230G>T (p.Gly410=) rs1461907039 0.00001
NM_032638.5(GATA2):c.1326C>T (p.His442=) rs886057929 0.00001
NM_032638.5(GATA2):c.204G>T (p.Ala68=) rs886057932 0.00001
NM_032638.5(GATA2):c.724A>G (p.Thr242Ala) rs886057931 0.00001
NM_032638.5(GATA2):c.999C>T (p.Ile333=) rs886072363 0.00001
NC_000003.12:g.(?_128479422)_(128487076_?)del
NM_032638.5(GATA2):c.*1002G>T rs977325610
NM_032638.5(GATA2):c.*1144G>A rs886057923
NM_032638.5(GATA2):c.*1173G>T rs779730117
NM_032638.5(GATA2):c.*1418G>T rs905132525
NM_032638.5(GATA2):c.*1522A>G rs2068597449
NM_032638.5(GATA2):c.*1543T>C rs886057922
NM_032638.5(GATA2):c.*418G>A rs2068613223
NM_032638.5(GATA2):c.*457G>A rs2068612595
NM_032638.5(GATA2):c.*479CTC[1] rs886057925
NM_032638.5(GATA2):c.*697C>T rs45437196
NM_032638.5(GATA2):c.*73C>T rs886057928
NM_032638.5(GATA2):c.*884A>T rs886057924
NM_032638.5(GATA2):c.-180C>A rs886057934
NM_032638.5(GATA2):c.-214G>A rs994244963
NM_032638.5(GATA2):c.-215C>T rs886057936
NM_032638.5(GATA2):c.-42C>G rs886057933
NM_032638.5(GATA2):c.-42C>T rs886057933
NM_032638.5(GATA2):c.-5C>T rs374415484
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_032638.5(GATA2):c.101T>G (p.Met34Arg) rs1576749857
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) rs1576745260
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr) rs1576745256
NM_032638.5(GATA2):c.1082G>T (p.Arg361Leu) rs387906634
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_032638.5(GATA2):c.1122_1125dup (p.Tyr376fs) rs863224874
NM_032638.5(GATA2):c.1405C>T (p.His469Tyr) rs2068620221
NM_032638.5(GATA2):c.232dup (p.Arg78fs) rs1576749301
NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) rs1576749168
NM_032638.5(GATA2):c.315C>G (p.Leu105=) rs750545562
NM_032638.5(GATA2):c.398G>T (p.Gly133Val) rs2068696971
NM_032638.5(GATA2):c.607G>C (p.Ala203Pro) rs1353988929
NM_032638.5(GATA2):c.659G>T (p.Ser220Ile) rs2068689916
NM_032638.5(GATA2):c.661A>C (p.Met221Leu) rs1252930387
NM_032638.5(GATA2):c.800C>T (p.Pro267Leu) rs886057930
NM_032638.5(GATA2):c.831del (p.Phe278fs) rs1576748378

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