ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, autosomal dominant 23

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Total variants: 6
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HGVS dbSNP
NC_000003.12:g.9440558C>T
NC_000003.12:g.9442156A>G
NC_000003.12:g.9447232_9447233CT[1]
NM_001080517.2(SETD5):c.3631+1G>T rs1553640838
NM_001292043.2(SETD5):c.1637C>G (p.Ser546Ter) rs1553625881
NM_001292043.2(SETD5):c.3337G>A (p.Asp1113Asn) rs1559496505

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