ClinVar Miner

List of variants in gene GATA2 reported as benign for deafness-lymphedema-leukemia syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.1143+203A>G rs2713604 0.69604
NM_032638.5(GATA2):c.15C>G (p.Pro5=) rs1573858 0.68160
NM_032638.5(GATA2):c.*200C>T rs10934857 0.22831
NM_032638.5(GATA2):c.*482C>T rs3803 0.17918
NM_032638.5(GATA2):c.1018-19C>T rs11708606 0.17884
NM_032638.5(GATA2):c.490G>A (p.Ala164Thr) rs2335052 0.17829
NM_032638.5(GATA2):c.*882T>A rs45463895 0.05352
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_032638.5(GATA2):c.*546C>T rs45463801 0.02933
NM_032638.5(GATA2):c.*715G>A rs73203415 0.01920
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_032638.5(GATA2):c.*410C>T rs45479594 0.01476
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_032638.5(GATA2):c.-276T>G rs563914744 0.00818
NM_032638.5(GATA2):c.*508G>A rs116559910 0.00392
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp) rs191501191 0.00327
NM_032638.5(GATA2):c.748C>G (p.Pro250Ala) rs78245253 0.00309
NM_032638.5(GATA2):c.*183C>T rs45598538 0.00308
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.*1080G>A rs115799885 0.00220
NM_032638.5(GATA2):c.279G>A (p.Pro93=) rs142993548 0.00051
NM_032638.5(GATA2):c.1173A>G (p.Glu391=) rs145076941 0.00041
NM_032638.5(GATA2):c.*1229A>G rs142582404 0.00040
NM_032638.5(GATA2):c.1416G>A (p.Pro472=) rs376805544 0.00022
NM_032638.5(GATA2):c.*94C>T rs79350619 0.00019
NM_032638.5(GATA2):c.*24G>A rs201159232 0.00012
NM_032638.5(GATA2):c.230-17T>C rs570049792 0.00009
NM_032638.5(GATA2):c.114G>A (p.Gln38=) rs775573177 0.00008
NM_032638.5(GATA2):c.*427C>T rs77448517 0.00006
NM_032638.5(GATA2):c.1431C>T (p.Thr477=) rs754297885 0.00005
NM_032638.5(GATA2):c.480C>T (p.Thr160=) rs199640729 0.00003
NC_000003.12:g.128479261G>A
NM_032638.5(GATA2):c.1017+491del rs564944614
NM_032638.5(GATA2):c.1017+491dup
NM_032638.5(GATA2):c.1017+704C>A rs980111298

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