ClinVar Miner

List of variants studied for autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006766.5(KAT6A):c.766C>T (p.Arg256Trp)	rs1296782375	0.00001
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter)	rs2150884950
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs)	rs1821721248
NM_006766.5(KAT6A):c.752G>A (p.Arg251Gln)	rs1824373842

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