ClinVar Miner

List of variants reported as benign for Deafness-lymphedema-leukemia syndrome

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Total variants: 24
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HGVS dbSNP gnomAD frequency
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.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.*1229A>G rs142582404 0.00040
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.114G>A (p.Gln38=) rs775573177 0.00008
NM_032638.5(GATA2):c.*427C>T rs77448517 0.00006

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