ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 5 by Geisinger Autism and Developmental Medicine Institute, Geisinger Health System

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_017755.6(NSUN2):c.1039G>A (p.Asp347Asn) rs779298195 0.00003
NM_017755.6(NSUN2):c.1112G>A (p.Gly371Glu) rs1560975832

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