ClinVar Miner

List of variants reported as likely benign for Sialic acid storage disease, severe infantile type

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.*560G>A rs115453489 0.00594
NM_012434.5(SLC17A5):c.820-3C>T rs12201641 0.00436
NM_012434.5(SLC17A5):c.*588G>A rs533473425 0.00317
NM_012434.5(SLC17A5):c.*1492C>G rs148144074 0.00162
NM_012434.5(SLC17A5):c.*799T>C rs529408804 0.00067
NM_012434.5(SLC17A5):c.*1630G>T rs141885984 0.00053

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