ClinVar Miner

List of variants in gene TCF4 reported as likely pathogenic by Invitae

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1147-2A>G rs2145503668
NM_001083962.2(TCF4):c.146-1G>A
NM_001083962.2(TCF4):c.1469C>G (p.Pro490Arg) rs1555722023
NM_001083962.2(TCF4):c.1486+1G>T rs2048816852
NM_001083962.2(TCF4):c.1619A>G (p.Asp540Gly) rs1568329461
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)
NM_001083962.2(TCF4):c.1727G>T (p.Arg576Leu) rs1057521070
NM_001083962.2(TCF4):c.1771C>T (p.Leu591Phe) rs2047107163
NM_001083962.2(TCF4):c.1772T>C (p.Leu591Pro) rs2047106597
NM_001083962.2(TCF4):c.178G>A (p.Gly60Arg) rs2144897134
NM_001083962.2(TCF4):c.329C>T (p.Ser110Leu)
NM_001083962.2(TCF4):c.550-12_550-2del rs2146265987
NM_001083962.2(TCF4):c.550-1G>A rs1601260508
NM_001083962.2(TCF4):c.655+1G>A rs587784465
NM_001083962.2(TCF4):c.991-1del rs2145681074
NM_001083962.2(TCF4):c.998C>T (p.Ser333Phe) rs2057699910

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