ClinVar Miner

List of variants in gene TCF4 reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys) rs2145503179
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001083962.2(TCF4):c.1760C>T (p.Ala587Val) rs1555710523
NM_001083962.2(TCF4):c.1840G>C (p.Ala614Pro) rs587784462
NM_001083962.2(TCF4):c.1871A>C (p.Gln624Pro) rs797046034
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) rs797046035
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg) rs1555796785
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469

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