ClinVar Miner

List of variants reported as uncertain significance for Intellectual developmental disorder with speech delay, autism, and dysmorphic facies by Baylor Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014516.4(CNOT3):c.1116C>G (p.Ala372=) rs767822171
NM_014516.4(CNOT3):c.1369C>A (p.Pro457Thr) rs1459108448
NM_014516.4(CNOT3):c.1636A>G (p.Met546Val) rs2075160534
NM_014516.4(CNOT3):c.1754C>T (p.Pro585Leu) rs1485224059
NM_014516.4(CNOT3):c.913T>A (p.Ser305Thr) rs2517929301
NM_014516.4(CNOT3):c.94-3C>G rs2517243813

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