ClinVar Miner

List of variants studied for Sialic acid storage disease, severe infantile type by Bruce Lefroy Centre, Murdoch Childrens Research Institute

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013

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