ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_001080517.3(SETD5):c.1030G>A (p.Gly344Ser)
NM_001080517.3(SETD5):c.1441-2A>G
NM_001080517.3(SETD5):c.1452dup (p.Pro485fs) rs1575453353
NM_001080517.3(SETD5):c.1709_1710del (p.Ser570fs) rs1575467723
NM_001080517.3(SETD5):c.1931C>G (p.Ser644Ter) rs1553625881
NM_001080517.3(SETD5):c.3631+1G>T rs1553640838
NM_001080517.3(SETD5):c.3631G>A (p.Asp1211Asn)
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs) rs1553641476
NM_001080517.3(SETD5):c.670C>T (p.Gln224Ter) rs1575421295
NM_001080517.3(SETD5):c.897del (p.Ile299fs) rs1575427610
NM_001080517.3(SETD5):c.922C>T (p.Arg308Ter) rs1421204500
NM_001080517.3(SETD5):c.941A>G (p.Asn314Ser)
NM_001080517.3(SETD5):c.988A>G (p.Lys330Glu) rs1575430613

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