ClinVar Miner

List of variants studied for autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome by Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs) rs1554680188
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer) rs1554679726

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