ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 46 by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001543.5(NDST1):c.389G>A (p.Arg130His) rs148227466 0.00005
NM_001543.5(NDST1):c.730C>T (p.Arg244Cys) rs375092472 0.00004
NM_001543.5(NDST1):c.388C>T (p.Arg130Cys) rs746465319 0.00001
NM_001543.5(NDST1):c.883G>A (p.Val295Met) rs747017483 0.00001
NM_001543.5(NDST1):c.2468G>C (p.Gly823Ala) rs1755738807

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