List of variants in gene SLC17A5 reported as likely pathogenic 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)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	rs769235753	0.00001
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)	rs119491110
NM_012434.5(SLC17A5):c.1111G>A (p.Gly371Arg)	rs1277966688
NM_012434.5(SLC17A5):c.409del (p.Met137fs)	rs794729653
NM_012434.5(SLC17A5):c.467_525+125del
NM_012434.5(SLC17A5):c.527G>T (p.Gly176Val)
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs)	rs753141230

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