ClinVar Miner

List of variants studied for Sialic acid storage disease, severe infantile type by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110

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