ClinVar Miner

List of variants in gene GATA2 reported as pathogenic for Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

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Total variants: 12
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NM_001145661.2(GATA2):c.1017+513_1017+540del rs1553770655
NM_001145661.2(GATA2):c.1018-1G>T rs869320668
NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del) rs869320734
NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_001145661.2(GATA2):c.243delinsGC (p.Gly82fs) rs869320735
NM_001145661.2(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_001145661.2(GATA2):c.761C>T (p.Pro254Leu) rs387906630
NM_032638.5(GATA2):c.839del (p.Pro280fs) rs1576748366
NM_032638.5(GATA2):c.971del (p.Lys324fs) rs1576746862

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