ClinVar Miner

List of variants in gene GATA2 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NC_000003.12:g.(?_128479422)_(128487076_?)del
NC_000003.12:g.(?_128486793)_(128487041_?)del
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1018-1G>T rs869320668
NM_032638.5(GATA2):c.1018-2A>G rs1576745322
NM_032638.5(GATA2):c.1019C>A (p.Ser340Ter) rs745439347
NM_032638.5(GATA2):c.1024dup (p.Ala342fs) rs2068635607
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.1038dup (p.Thr347fs)
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1082_1083dup (p.Arg362fs)
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1126_1143+54del
NM_032638.5(GATA2):c.1148dup (p.Asn383fs)
NM_032638.5(GATA2):c.1180C>T (p.Gln394Ter)
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) rs1576744529
NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln) rs1553770434
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln) rs1420609104
NM_032638.5(GATA2):c.1196_1197insAG (p.Met400fs)
NM_032638.5(GATA2):c.1217del (p.Lys406fs)
NM_032638.5(GATA2):c.202del (p.Ala68fs)
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter) rs1254938356
NM_032638.5(GATA2):c.288_289del (p.Trp97fs)
NM_032638.5(GATA2):c.305_309del (p.Lys102fs)
NM_032638.5(GATA2):c.384dup (p.Ser129fs)
NM_032638.5(GATA2):c.423C>G (p.Tyr141Ter)
NM_032638.5(GATA2):c.437dup (p.Gly147fs) rs2107672654
NM_032638.5(GATA2):c.476_479dup (p.Pro161fs) rs2107672568
NM_032638.5(GATA2):c.522del (p.Thr176fs)
NM_032638.5(GATA2):c.599del (p.Gly200fs) rs768767517
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_032638.5(GATA2):c.649_653dup (p.Thr218_Glu219insTer) rs1553770949
NM_032638.5(GATA2):c.656_675del (p.Glu219fs)
NM_032638.5(GATA2):c.751_752dup (p.Tyr252fs) rs2107672019
NM_032638.5(GATA2):c.783_787dup (p.Gly263fs)
NM_032638.5(GATA2):c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC (p.Gly268fs)
NM_032638.5(GATA2):c.812dup (p.Pro274fs) rs2107671906
NM_032638.5(GATA2):c.818dup (p.Pro274fs) rs1559986946
NM_032638.5(GATA2):c.839dup (p.Pro280_Lys281insTer) rs1576748366
NM_032638.5(GATA2):c.890_903dup (p.Ala302fs) rs1559986109
NM_032638.5(GATA2):c.971del (p.Lys324fs) rs1576746862
NM_032638.5(GATA2):c.988C>T (p.Arg330Ter) rs1576746847
NM_032638.5(GATA2):c.99C>A (p.Tyr33Ter)

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