ClinVar Miner

List of variants in gene GATA2 reported by Sema4, Sema4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.66C>G (p.Pro22=) rs113384352 0.00264
NM_032638.5(GATA2):c.333C>T (p.His111=) rs148554346 0.00228
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_032638.5(GATA2):c.1173A>G (p.Glu391=) rs145076941 0.00041
NM_032638.5(GATA2):c.177C>T (p.Tyr59=) rs146150325 0.00023
NM_032638.5(GATA2):c.1416G>A (p.Pro472=) rs376805544 0.00022
NM_032638.5(GATA2):c.639C>T (p.Tyr213=) rs372455331 0.00014
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys) rs367785289 0.00011
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) rs141800945 0.00009
NM_032638.5(GATA2):c.114G>A (p.Gln38=) rs775573177 0.00008
NM_032638.5(GATA2):c.978T>C (p.Asn326=) rs769794900 0.00008
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu) rs372912472 0.00007
NM_032638.5(GATA2):c.189C>T (p.Pro63=) rs763735447 0.00007
NM_032638.5(GATA2):c.888C>T (p.Val296=) rs574218913 0.00007
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu) rs146554939 0.00006
NM_032638.5(GATA2):c.1431C>T (p.Thr477=) rs754297885 0.00005
NM_032638.5(GATA2):c.213C>T (p.Ser71=) rs759513417 0.00005
NM_032638.5(GATA2):c.358C>T (p.Pro120Ser) rs144794596 0.00004
NM_032638.5(GATA2):c.1347C>A (p.Ser449=) rs150052821 0.00003
NM_032638.5(GATA2):c.480C>T (p.Thr160=) rs199640729 0.00003
NM_032638.5(GATA2):c.654G>A (p.Thr218=) rs34632959 0.00003
NM_032638.5(GATA2):c.1143+8C>T rs555534597 0.00002
NM_032638.5(GATA2):c.153C>T (p.His51=) rs1416891061 0.00002
NM_032638.5(GATA2):c.1128C>T (p.Tyr376=) rs750890699 0.00001
NM_032638.5(GATA2):c.1170G>A (p.Lys390=) rs765884493 0.00001
NM_032638.5(GATA2):c.1185T>C (p.Thr395=) rs771739064 0.00001
NM_032638.5(GATA2):c.1230G>T (p.Gly410=) rs1461907039 0.00001
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) rs374457534 0.00001
NM_032638.5(GATA2):c.136G>A (p.Asp46Asn) rs370750401 0.00001
NM_032638.5(GATA2):c.593C>T (p.Ala198Val) rs745726293 0.00001
NM_032638.5(GATA2):c.102G>C (p.Met34Ile) rs2107673586
NM_032638.5(GATA2):c.1035C>T (p.Ala345=) rs371599112
NM_032638.5(GATA2):c.1197G>T (p.Lys399Asn) rs371096438
NM_032638.5(GATA2):c.230-12_230-9del rs760230147
NM_032638.5(GATA2):c.609C>A (p.Ala203=) rs2107672283
NM_032638.5(GATA2):c.774C>G (p.His258Gln) rs1353328065
NM_032638.5(GATA2):c.860G>A (p.Arg287His) rs1004873472

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