List of variants in gene SLC17A5 reported as 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: 15

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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.918T>G (p.Tyr306Ter)	rs201284672	0.00013
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)	rs727504156	0.00006
NM_012434.5(SLC17A5):c.1111+1G>A	rs777862172	0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	rs769235753	0.00001
NM_012434.5(SLC17A5):c.1259+1G>A	rs146095590	0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)	rs1234745577	0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)	rs587779410	0.00001
NG_008272.1:g.(37212_43567)_(48616_58573)del
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)	rs119491110
NM_012434.5(SLC17A5):c.548A>G (p.His183Arg)	rs119491109
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)	rs1769021763
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs)	rs753141230
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)	rs386833994
SLC17A5, 500-BP INS, NT978

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