ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, autosomal dominant 19

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Total variants: 5
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HGVS dbSNP
NM_001904.4(CTNNB1):c.1016_1025delinsT (p.Thr339_Arg342delinsIle) rs1559470315
NM_001904.4(CTNNB1):c.1271T>G (p.Leu424Arg) rs863224864
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001904.4(CTNNB1):c.2076G>C (p.Glu692Asp) rs1559477241
NM_001904.4(CTNNB1):c.2273del (p.His758fs) rs1575339920

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