ClinVar Miner

List of variants reported as likely pathogenic for TCF12-related craniosynostosis

Included ClinVar conditions (2):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_207037.2(TCF12):c.1036-6G>A
NM_207037.2(TCF12):c.1746-8T>G
NM_207037.2(TCF12):c.1807C>T (p.Arg603Trp) rs1191340189
NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln) rs1349009265
NM_207037.2(TCF12):c.1837C>T (p.Arg613Cys) rs1414251456
NM_207037.2(TCF12):c.1838G>A (p.Arg613His)
NM_207037.2(TCF12):c.268C>T (p.Arg90Ter) rs747222651
NM_207037.2(TCF12):c.325+2T>C
NM_207037.2(TCF12):c.655del (p.Ser219fs)
NM_207037.2(TCF12):c.778_779del (p.Met260fs) rs2059175292
NM_207037.2(TCF12):c.784C>T (p.Gln262Ter)

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