ClinVar Miner

List of variants in gene GATA2 reported as uncertain significance for Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
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.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_032638.5(GATA2):c.649C>T (p.Leu217=) rs369356562 0.00002
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr) rs751285156 0.00001
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) rs374457534 0.00001
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) rs370164300 0.00001
NM_032638.5(GATA2):c.182C>T (p.Ala61Val) rs375349195 0.00001
NM_032638.5(GATA2):c.208G>T (p.Val70Phe) rs570531959 0.00001
NM_032638.5(GATA2):c.371C>T (p.Thr124Met) rs569301892 0.00001
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly) rs1161655427 0.00001
NM_032638.5(GATA2):c.832T>A (p.Phe278Ile) rs1449079964 0.00001
NM_032638.5(GATA2):c.1168A>G (p.Lys390Glu) rs2107668094
NM_032638.5(GATA2):c.129C>G (p.Asp43Glu) rs2107673546
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser) rs751621459
NM_032638.5(GATA2):c.494A>T (p.His165Leu) rs1559987389
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala) rs373477245
NM_032638.5(GATA2):c.748C>T (p.Pro250Ser) rs78245253
NM_032638.5(GATA2):c.773A>G (p.His258Arg)
NM_032638.5(GATA2):c.814G>C (p.Gly272Arg) rs367955980
NM_032638.5(GATA2):c.959G>A (p.Gly320Asp)

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