ClinVar Miner

List of variants studied for Sialic acid storage disease, severe infantile type; Salla disease by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00100
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile) rs140060360 0.00037
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr) rs141341430 0.00028

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