ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 34 by Revvity Omics, Revvity

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001379029.1(CERT1):c.238G>A (p.Asp80Asn) rs1444182109 0.00002
NM_001379029.1(CERT1):c.-140C>A rs993938595
NM_001379029.1(CERT1):c.-41A>T rs757255215
NM_001379029.1(CERT1):c.1073C>G (p.Ala358Gly) rs368093187
NM_001379029.1(CERT1):c.1201G>T (p.Val401Leu) rs114564914
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu) rs1064794019
NM_001379029.1(CERT1):c.734C>T (p.Ala245Val) rs2479084304

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