ClinVar Miner

List of variants reported as pathogenic for autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome by Baylor Genetics

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006766.5(KAT6A):c.2463del (p.Asn821fs)	rs1661324893
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter)	rs1064793721

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