ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (1):

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile)	rs199732997	0.00002
NM_006766.5(KAT6A):c.5560C>T (p.His1854Tyr)	rs1587706129

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