ClinVar Miner

List of variants in gene TCF3 studied for autosomal agammaglobulinemia

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_003200.5(TCF3):c.72+42T>C rs1860661 0.56456
NM_003200.5(TCF3):c.145+133G>A rs2302419 0.18839
NM_003200.5(TCF3):c.1713G>A (p.Glu571=) rs143212973 0.00394
NM_003200.5(TCF3):c.1154G>A (p.Gly385Asp) rs117006898 0.00282
NM_003200.5(TCF3):c.315G>A (p.Arg105=) rs144176765 0.00160
NM_003200.5(TCF3):c.136G>A (p.Gly46Arg) rs143529809 0.00039
NM_003200.5(TCF3):c.307G>A (p.Gly103Ser) rs201841190 0.00037
NM_003200.5(TCF3):c.1564A>C (p.Lys522Gln) rs201831565 0.00029
NM_003200.5(TCF3):c.823-13C>T rs148835727 0.00019
NM_003200.5(TCF3):c.1948C>A (p.Pro650Thr) rs7252811 0.00013
NM_003200.5(TCF3):c.1430G>A (p.Arg477Gln) rs199957863 0.00012
NM_003200.5(TCF3):c.473G>A (p.Arg158Gln) rs554419240 0.00012
NM_003200.5(TCF3):c.229G>A (p.Glu77Lys) rs138963927 0.00011
NM_003200.5(TCF3):c.23C>T (p.Ala8Val) rs376780559 0.00008
NM_003200.5(TCF3):c.1541C>T (p.Ser514Leu) rs372168347 0.00006
NM_003200.5(TCF3):c.1049C>T (p.Ser350Leu) rs963433488 0.00002
NM_003200.5(TCF3):c.107G>A (p.Arg36Gln) rs1011180356 0.00001
NM_003200.5(TCF3):c.1327-3C>A rs369551101 0.00001
NM_003200.5(TCF3):c.1589C>G (p.Pro530Arg) rs745797783 0.00001
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys) rs879255271
NM_001136139.4(TCF3):c.1755G>A (p.Lys585=) rs1568312916
NM_003200.5(TCF3):c.1121C>A (p.Ala374Asp) rs753137385
NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs) rs2061880735
NM_003200.5(TCF3):c.1543GAG[2] (p.Glu517del)
NM_003200.5(TCF3):c.1670G>A (p.Arg557Gln) rs2145853075
NM_003200.5(TCF3):c.1806G>A (p.Leu602=) rs1376446279
NM_003200.5(TCF3):c.320C>T (p.Ala107Val)
NM_003200.5(TCF3):c.879CTC[1] (p.Ser295del) rs550914200
NM_003200.5(TCF3):c.955+204G>A rs372121697

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