ClinVar Miner

List of variants studied for congenital heart defects, dysmorphic facial features, and intellectual developmental disorder by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160

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