ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 46 by Revvity Omics, Revvity

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001543.5(NDST1):c.334C>T (p.Arg112Cys) rs138962514 0.00036
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_001543.5(NDST1):c.883G>A (p.Val295Met) rs747017483 0.00001
NM_001543.5(NDST1):c.2063G>A (p.Arg688Gln)
NM_001543.5(NDST1):c.2272G>A (p.Ala758Thr)
NM_001543.5(NDST1):c.2623C>T (p.Arg875Ter)

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