ClinVar Miner

List of variants studied for craniosynostosis by Daryl Scott Lab, Baylor College of Medicine

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_003036.4(SKI):c.647G>T (p.Arg216Leu)
NM_005816.5(CD96):c.1181-12T>C
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln) rs1349009265

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