ClinVar Miner

List of variants reported as likely benign for Intellectual disability, autosomal recessive 5 by Illumina Laboratory Services, Illumina

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211 0.00371
NM_017755.6(NSUN2):c.222C>T (p.Leu74=) rs138716662 0.00159
NM_017755.6(NSUN2):c.*17G>A rs201903423 0.00154
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg) rs149244771 0.00051
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr) rs564938323 0.00036

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