ClinVar Miner

List of variants reported as likely pathogenic for craniosynostosis by Mendelics

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) rs1057519042
NM_000474.4(TWIST1):c.365A>G (p.Gln122Arg) rs2115396737
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro) rs2108328020

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