ClinVar Miner

List of variants in gene CERT1 reported as likely pathogenic for Intellectual disability, autosomal dominant 34

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001379029.1(CERT1):c.1742C>T (p.Ala581Val)
NM_001379029.1(CERT1):c.496A>G (p.Thr166Ala) rs1580752093
NM_001379029.1(CERT1):c.728G>C (p.Gly243Ala) rs2112150100
NM_001379029.1(CERT1):c.887C>G (p.Thr296Arg)

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