ClinVar Miner

List of variants in gene TCF4 reported as pathogenic for Inborn genetic diseases

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1142_1143del (p.Ser381fs)
NM_001083962.2(TCF4):c.1267_1268del (p.Gly423fs) rs1555764170
NM_001083962.2(TCF4):c.1304C>G (p.Ser435Ter) rs1555763998
NM_001083962.2(TCF4):c.1399_1403del (p.Leu467fs)
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln) rs1057521070
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001083962.2(TCF4):c.469del (p.Arg157fs) rs1569138023
NM_001083962.2(TCF4):c.624del (p.Ser209fs) rs2062118353
NM_001083962.2(TCF4):c.673del (p.Asp225fs) rs1555797248
NM_001083962.2(TCF4):c.680G>A (p.Trp227Ter) rs1555797231
NM_001083962.2(TCF4):c.931G>T (p.Gly311Ter) rs1555778204

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