ClinVar Miner

List of variants studied for TCF12-related craniosynostosis by OMIM

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_207037.2(TCF12):c.1035+3G>C rs886037640
NM_207037.2(TCF12):c.1491dup (p.Val498fs) rs886037637
NM_207037.2(TCF12):c.1646del (p.Lys549fs) rs886037638
NM_207037.2(TCF12):c.1912C>G (p.Gln638Glu) rs886037641
NM_207037.2(TCF12):c.1963G>T (p.Glu655Ter) rs886037639
NM_207037.2(TCF12):c.722C>G (p.Ser241Ter) rs398122381
NM_207037.2(TCF12):c.826-2A>G rs2151925569
NM_207037.2(TCF12):c.842C>G (p.Ser281Ter) rs886037636

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