ClinVar Miner

List of variants in gene GATA2 reported as pathogenic for Lymphedema, primary, with myelodysplasia

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Total variants: 8
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HGVS dbSNP
NC_000003.12:g.(?_128479422)_(128487076_?)del
NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_001145661.2(GATA2):c.1082G>T (p.Arg361Leu) rs387906634
NM_001145661.2(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_001145661.2(GATA2):c.1122_1125dup (p.Tyr376fs) rs863224874
NM_032638.5(GATA2):c.232dup (p.Arg78fs) rs1576749301
NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) rs1576749168
NM_032638.5(GATA2):c.831del (p.Phe278fs) rs1576748378

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