ClinVar Miner

List of variants in gene GATA2 reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_032638.5(GATA2):c.279G>A (p.Pro93=) rs142993548 0.00051
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu) rs146554939 0.00006
NM_032638.5(GATA2):c.1370C>T (p.Thr457Met) rs139415862 0.00002
NM_032638.5(GATA2):c.669G>A (p.Met223Ile) rs140382420 0.00002
NM_032638.5(GATA2):c.1230G>T (p.Gly410=) rs1461907039 0.00001
NM_032638.5(GATA2):c.182C>T (p.Ala61Val) rs375349195 0.00001
NM_032638.5(GATA2):c.186C>G (p.Asn62Lys) rs751200779 0.00001
NM_032638.5(GATA2):c.707T>C (p.Met236Thr) rs61754578 0.00001
NM_032638.5(GATA2):c.787G>A (p.Gly263Arg) rs587778378 0.00001
NM_032638.5(GATA2):c.971A>G (p.Lys324Arg) rs1480450110 0.00001
NM_032638.5(GATA2):c.1036_1056dup (p.Gly346_Cys352dup) rs1576745241
NM_032638.5(GATA2):c.1052A>G (p.Asn351Ser) rs1576745252
NM_032638.5(GATA2):c.1165_1170del (p.Lys389_Lys390del) rs1576744556
NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg) rs1576744275
NM_032638.5(GATA2):c.299_300delinsTT (p.Gly100Val) rs1060500084
NM_032638.5(GATA2):c.338A>G (p.His113Arg) rs1576749120
NM_032638.5(GATA2):c.524C>G (p.Pro175Arg) rs755939655
NM_032638.5(GATA2):c.540A>C (p.Glu180Asp)
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala) rs373477245
NM_032638.5(GATA2):c.64C>A (p.Pro22Thr) rs1172590651
NM_032638.5(GATA2):c.785G>A (p.Ser262Asn) rs1305082777
NM_032638.5(GATA2):c.857C>T (p.Ala286Val) rs797045592
NM_032638.5(GATA2):c.905C>T (p.Ala302Val) rs1237462942

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