ClinVar Miner

List of variants studied for craniosynostosis by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_003036.4(SKI):c.91T>C (p.Ser31Pro) rs1569656981
NM_006766.5(KAT6A):c.1903-5_1903-2del rs1587727050
NM_207037.2(TCF12):c.1907_1908del (p.Lys636fs) rs2061224553

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