ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, autosomal dominant 32

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Total variants: 3
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HGVS dbSNP
NM_006766.3(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006766.4(KAT6A):c.3596del (p.Gly1199Aspfs) rs1554680188
NM_006766.4(KAT6A):c.4688_4689del (p.Tyr1563Terfs) rs1554679726

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