ClinVar Miner

List of variants in gene TCF12 reported as likely pathogenic by GeneDx

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_207037.2(TCF12):c.1267C>T (p.Arg423Ter) rs753261578 0.00001
NM_207037.2(TCF12):c.1035+3G>C rs886037640
NM_207037.2(TCF12):c.1036-1G>T rs1057524509
NM_207037.2(TCF12):c.1189-2A>G rs2060160575
NM_207037.2(TCF12):c.1254_1257dup (p.Glu420delinsLeuTer)
NM_207037.2(TCF12):c.1978+3_1978+10del rs2152099040
NM_207037.2(TCF12):c.268C>T (p.Arg90Ter) rs747222651
NM_207037.2(TCF12):c.548_551del (p.Val183fs) rs1555392502
NM_207037.2(TCF12):c.584_585del (p.Tyr195fs) rs1555402525
NM_207037.2(TCF12):c.60del (p.Leu21fs) rs1595676731
NM_207037.2(TCF12):c.812C>A (p.Ser271Ter) rs554037047

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