ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 5 by Revvity Omics, Revvity

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017755.6(NSUN2):c.116C>T (p.Pro39Leu) rs149512747 0.00013
NM_017755.6(NSUN2):c.1477A>C (p.Asn493His) rs767391744 0.00001
NM_017755.6(NSUN2):c.1198_1201dup (p.Leu401fs) rs2126481981

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