ClinVar Miner

List of variants in gene GATA2 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
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.-54C>T rs146660278 0.00493
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp) rs191501191 0.00327
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.1173A>G (p.Glu391=) rs145076941 0.00041
NM_032638.5(GATA2):c.1416G>A (p.Pro472=) rs376805544 0.00022
NM_032638.5(GATA2):c.639C>T (p.Tyr213=) rs372455331 0.00014
NM_032638.5(GATA2):c.1143+11C>T rs367569053 0.00013
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys) rs367785289 0.00011
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg) rs753645971 0.00009
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) rs141800945 0.00009
NM_032638.5(GATA2):c.114G>A (p.Gln38=) rs775573177 0.00008
NM_032638.5(GATA2):c.375A>C (p.Pro125=) rs763281230 0.00008
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu) rs372912472 0.00007
NM_032638.5(GATA2):c.888C>T (p.Val296=) rs574218913 0.00007
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu) rs146554939 0.00006
NM_032638.5(GATA2):c.1431C>T (p.Thr477=) rs754297885 0.00005
NM_032638.5(GATA2):c.49C>T (p.Leu17=) rs752025757 0.00005
NM_032638.5(GATA2):c.1017+485A>T rs745812924 0.00004
NM_032638.5(GATA2):c.1391G>T (p.Ser464Ile) rs770949428 0.00004
NM_032638.5(GATA2):c.358C>T (p.Pro120Ser) rs144794596 0.00004
NM_032638.5(GATA2):c.612A>G (p.Arg204=) rs758507997 0.00004
NM_032638.5(GATA2):c.-314G>A rs1321601729 0.00003
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_032638.5(GATA2):c.480C>T (p.Thr160=) rs199640729 0.00003
NM_032638.5(GATA2):c.-328del rs1220195779 0.00002
NM_032638.5(GATA2):c.1401C>T (p.Phe467=) rs534807053 0.00002
NM_032638.5(GATA2):c.-179G>C rs890513278 0.00001
NM_032638.5(GATA2):c.1017+512C>T rs890419135 0.00001
NM_032638.5(GATA2):c.1020G>A (p.Ser340=) rs370166358 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_032638.5(GATA2):c.1179C>G (p.Ile393Met) rs1553770437 0.00001
NM_032638.5(GATA2):c.1230G>T (p.Gly410=) rs1461907039 0.00001
NM_032638.5(GATA2):c.371C>A (p.Thr124Lys) rs569301892 0.00001
NM_032638.5(GATA2):c.409C>T (p.Pro137Ser) rs113166293 0.00001
NM_032638.5(GATA2):c.1017+525C>T rs916833024
NM_032638.5(GATA2):c.1017+530C>T rs2107669883
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1018-5C>G rs769196688
NM_032638.5(GATA2):c.1035C>T (p.Ala345=) rs371599112
NM_032638.5(GATA2):c.1036G>A (p.Gly346Ser) rs1559985135
NM_032638.5(GATA2):c.1054T>C (p.Cys352Arg) rs797045591
NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly) rs1426175410
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1129T>G (p.Tyr377Asp) rs2107668593
NM_032638.5(GATA2):c.1161C>A (p.Thr387=) rs775990572
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) rs1576744529
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.1371G>A (p.Thr457=) rs763539605
NM_032638.5(GATA2):c.1407C>A (p.His469Gln) rs772050518
NM_032638.5(GATA2):c.230-12_230-9del rs760230147
NM_032638.5(GATA2):c.299_300delinsTT (p.Gly100Val) rs1060500084
NM_032638.5(GATA2):c.331CAC[2] (p.His113del) rs777017660
NM_032638.5(GATA2):c.346_351del (p.Trp116_Thr117del) rs2107672791
NM_032638.5(GATA2):c.437del (p.Gly146fs) rs2107672654
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_032638.5(GATA2):c.706A>G (p.Met236Val) rs746737860
NM_032638.5(GATA2):c.774C>G (p.His258Gln) rs1353328065
NM_032638.5(GATA2):c.802G>A (p.Gly268Arg)
NM_032638.5(GATA2):c.857C>T (p.Ala286Val) rs797045592
NM_032638.5(GATA2):c.872-5T>G rs886038417
NM_032638.5(GATA2):c.942C>T (p.Tyr314=) rs2107670420
NM_032638.5(GATA2):c.995_996insG (p.Ile333fs) rs2107670326

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