ClinVar Miner

List of variants in gene TNFAIP3 studied for Autoinflammatory syndrome, familial, Behcet-like

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001270508.2(TNFAIP3):c.2295C>T (p.Pro765=) rs5029956 0.02909
NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) rs5029941 0.00569
NM_001270508.2(TNFAIP3):c.2175G>A (p.Leu725=) rs140354477 0.00221
NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro) rs142253225 0.00189
NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val) rs142752989 0.00067
NM_001270508.2(TNFAIP3):c.2090G>A (p.Arg697Lys) rs201429571 0.00034
NM_001270508.2(TNFAIP3):c.1757C>T (p.Ala586Val) rs756832433 0.00002
NM_001270508.2(TNFAIP3):c.1294G>A (p.Gly432Ser) rs1453719653 0.00001
NM_001270508.2(TNFAIP3):c.1306G>A (p.Gly436Arg) rs766691413 0.00001
NM_001270508.2(TNFAIP3):c.1710C>T (p.Leu570=) rs542739083 0.00001
NM_001270508.2(TNFAIP3):c.1828G>A (p.Ala610Thr) rs1776363649 0.00001
GRCh37/hg19 6q23.3(chr6:138065475-138252638)x1
NM_001270508.2(TNFAIP3):c.1035C>A (p.Tyr345Ter) rs2114496422
NM_001270508.2(TNFAIP3):c.1555G>A (p.Gly519Arg) rs762149390
NM_001270508.2(TNFAIP3):c.1727dup (p.His577fs) rs2114504458
NM_001270508.2(TNFAIP3):c.227C>T (p.Thr76Ile) rs1776060477
NM_001270508.2(TNFAIP3):c.22C>T (p.Gln8Ter) rs1461832435
NM_001270508.2(TNFAIP3):c.296-15_296-13del rs2307859
NM_001270508.2(TNFAIP3):c.881C>T (p.Pro294Leu) rs756723486
NM_001270508.2(TNFAIP3):c.950G>A (p.Trp317Ter)
NM_001270508.2(TNFAIP3):c.980C>T (p.Ala327Val) rs1210641937
Single allele

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