ClinVar Miner

List of variants reported as pathogenic for Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

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Total variants: 19
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HGVS dbSNP
NC_000003.12:g.(?_128480999)_(128912627_?)del
NC_000003.12:g.(?_128486793)_(128487041_?)del
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_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer) rs1553770949
NM_001145661.2(GATA2):c.818dup (p.Pro274fs) rs1559986946
NM_001145661.2(GATA2):c.890_903dup (p.Ala302fs) rs1559986109
NM_001145661.2(GATA2):c.988C>T (p.Arg330Ter) rs1576746847
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter)
NM_032638.5(GATA2):c.437dup (p.Gly147fs)
NM_032638.5(GATA2):c.476_479dup (p.Pro161fs)
NM_032638.5(GATA2):c.599del (p.Gly200fs) rs768767517
NM_032638.5(GATA2):c.839dup (p.Pro280_Lys281insTer)
NM_032638.5(GATA2):c.971del (p.Lys324fs) rs1576746862

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