List of variants in gene combination LOC129996727, SLC17A5 reported as uncertain significance for Sialic acid storage disease, severe infantile type; Salla disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)	rs141463026	0.00100
NM_012434.5(SLC17A5):c.93C>T (p.Ala31=)	rs1347154246	0.00001
NM_012434.5(SLC17A5):c.59C>A (p.Thr20Lys)
NM_012434.5(SLC17A5):c.71C>T (p.Pro24Leu)
NM_012434.5(SLC17A5):c.77C>A (p.Ala26Asp)
NM_012434.5(SLC17A5):c.94G>T (p.Ala32Ser)

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