ClinVar Miner

List of variants in gene SLC17A5 reported as not provided for Sialic acid storage disease, severe infantile type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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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.406A>G (p.Lys136Glu)	rs80338795	0.00007

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