ClinVar Miner

List of variants in gene LOC129996727, SLC17A5 studied for Sialic acid storage disease, severe infantile type

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)	rs141463026	0.00098
NM_012434.5(SLC17A5):c.-86A>T	rs886061737	0.00003
NM_012434.5(SLC17A5):c.-56C>G	rs886061736
NM_012434.5(SLC17A5):c.-73C>A	rs1769998487

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