ClinVar Miner

List of variants studied for Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome by Illumina Laboratory Services, Illumina

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.2135G>A (p.Ser712Asn) rs2150863487
NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)
NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)
NM_006766.5(KAT6A):c.5287A>G (p.Ile1763Val) rs1821630087

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