ClinVar Miner

List of variants in gene GATA2 reported as pathogenic by PreventionGenetics,PreventionGenetics

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Total variants: 11
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HGVS dbSNP
NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_001145661.2(GATA2):c.1017+572C>T rs1559985787
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1187G>A (p.Arg396Gln) rs1553770434
NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_001145661.2(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_032638.5(GATA2):c.1017+2T>A rs1576746830
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) rs1576744529
NM_032638.5(GATA2):c.561dup (p.Thr188fs) rs1576748738
NM_032638.5(GATA2):c.599del (p.Gly200fs) rs768767517
NM_032638.5(GATA2):c.610C>T (p.Arg204Ter) rs1576748638

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