ClinVar Miner

List of variants in gene GATA2 reported as uncertain significance for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys) rs367785289 0.00011
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg) rs753645971 0.00009
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) rs141800945 0.00009
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu) rs372912472 0.00007
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu) rs146554939 0.00006
NM_032638.5(GATA2):c.1331C>T (p.Pro444Leu) rs781161922 0.00004
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro) rs746362966 0.00004
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_032638.5(GATA2):c.176A>G (p.Tyr59Cys) rs140047487 0.00002
NM_032638.5(GATA2):c.1020G>A (p.Ser340=) rs370166358 0.00001
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr) rs751285156 0.00001
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) rs374457534 0.00001
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) rs370164300 0.00001
NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser) rs777726701 0.00001
NM_032638.5(GATA2):c.182C>T (p.Ala61Val) rs375349195 0.00001
NM_032638.5(GATA2):c.208G>T (p.Val70Phe) rs570531959 0.00001
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly) rs1161655427 0.00001
NM_032638.5(GATA2):c.502T>G (p.Ser168Ala) rs377261969 0.00001
NM_032638.5(GATA2):c.571G>A (p.Ala191Thr) rs1355811506 0.00001
NM_032638.5(GATA2):c.593C>T (p.Ala198Val) rs745726293 0.00001
NM_032638.5(GATA2):c.682C>A (p.Pro228Thr) rs375298899 0.00001
NM_032638.5(GATA2):c.856G>A (p.Ala286Thr) rs1443864030 0.00001
NM_032638.5(GATA2):c.1148A>G (p.Asn383Ser) rs2068625752
NM_032638.5(GATA2):c.1202C>G (p.Ser401Cys)
NM_032638.5(GATA2):c.1215G>T (p.Lys405Asn) rs779797858
NM_032638.5(GATA2):c.1267G>A (p.Glu423Lys) rs758517602
NM_032638.5(GATA2):c.1333C>G (p.Pro445Ala)
NM_032638.5(GATA2):c.1423A>T (p.Met475Leu) rs1429596189
NM_032638.5(GATA2):c.154C>G (p.Leu52Val)
NM_032638.5(GATA2):c.238A>G (p.Thr80Ala)
NM_032638.5(GATA2):c.259C>T (p.Pro87Ser)
NM_032638.5(GATA2):c.283T>G (p.Leu95Val)
NM_032638.5(GATA2):c.308C>T (p.Ala103Val) rs2068698528
NM_032638.5(GATA2):c.424C>T (p.Pro142Ser) rs2068696200
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser) rs751621459
NM_032638.5(GATA2):c.494A>T (p.His165Leu) rs1559987389
NM_032638.5(GATA2):c.553C>T (p.Pro185Ser) rs1373180685
NM_032638.5(GATA2):c.592G>T (p.Ala198Ser) rs1576748685
NM_032638.5(GATA2):c.596G>C (p.Gly199Ala)
NM_032638.5(GATA2):c.598G>C (p.Gly200Arg)
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala) rs373477245
NM_032638.5(GATA2):c.64C>T (p.Pro22Ser) rs1172590651
NM_032638.5(GATA2):c.706A>G (p.Met236Val) rs746737860
NM_032638.5(GATA2):c.748C>T (p.Pro250Ser) rs78245253
NM_032638.5(GATA2):c.7G>C (p.Val3Leu)
NM_032638.5(GATA2):c.843G>T (p.Lys281Asn) rs2068685897
NM_032638.5(GATA2):c.85C>G (p.Leu29Val)

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