ClinVar Miner

List of variants in gene GATA2 reported as pathogenic for not provided

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
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.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.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.1289C>T (p.Ala430Val) rs2068623044
NM_032638.5(GATA2):c.177C>G (p.Tyr59Ter) rs146150325
NM_032638.5(GATA2):c.345dup (p.Trp116fs) rs1553771050
NM_032638.5(GATA2):c.437del (p.Gly146fs) rs2107672654
NM_032638.5(GATA2):c.561dup (p.Thr188fs) rs1576748738
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.880del (p.Glu294fs) rs2107670492
NM_032638.5(GATA2):c.915_916del (p.Trp306fs) rs2107670467

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