List of variants in gene SLC17A5 reported as uncertain significance 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: 36

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.*1565C>T	rs543558815	0.00164
NM_012434.5(SLC17A5):c.*1155T>A	rs921762676	0.00149
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)	rs142553916	0.00131
NM_012434.5(SLC17A5):c.*1533A>G	rs530389010	0.00078
NM_012434.5(SLC17A5):c.*762C>T	rs768718508	0.00044
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)	rs147732875	0.00041
NM_012434.5(SLC17A5):c.*174G>C	rs575300701	0.00038
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile)	rs140060360	0.00037
NM_012434.5(SLC17A5):c.*550G>A	rs538417413	0.00032
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)	rs200632199	0.00032
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)	rs141341430	0.00028
NM_012434.5(SLC17A5):c.*1692G>A	rs540786941	0.00006
NM_012434.5(SLC17A5):c.*1696T>C	rs886061724	0.00004
NM_012434.5(SLC17A5):c.*373G>A	rs886061734	0.00004
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val)	rs374771372	0.00003
NM_012434.5(SLC17A5):c.*1566G>A	rs886061726	0.00002
NM_012434.5(SLC17A5):c.*1206G>A	rs1239251189	0.00001
NM_012434.5(SLC17A5):c.*1450G>A	rs886061727	0.00001
NM_012434.5(SLC17A5):c.*478C>T	rs886061733	0.00001
NM_012434.5(SLC17A5):c.*488G>A	rs1216079110	0.00001
NM_012434.5(SLC17A5):c.*587C>T	rs1303568875	0.00001
NM_012434.5(SLC17A5):c.*817G>A	rs886061731	0.00001
NM_012434.5(SLC17A5):c.*837C>T	rs886061730	0.00001
NM_012434.5(SLC17A5):c.*901C>T	rs886061729	0.00001
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)	rs374241516	0.00001
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)	rs924683894	0.00001
NM_012434.5(SLC17A5):c.*1056A>G	rs938117850
NM_012434.5(SLC17A5):c.*1332T>A	rs886061728
NM_012434.5(SLC17A5):c.*501G>A	rs933119464
NM_012434.5(SLC17A5):c.*595C>G	rs540399289
NM_012434.5(SLC17A5):c.*666C>T	rs886061732
NM_012434.5(SLC17A5):c.1045G>A (p.Ala349Thr)	rs1767808770
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)	rs372195490
NM_012434.5(SLC17A5):c.1358T>G (p.Val453Gly)	rs886061735
NM_012434.5(SLC17A5):c.719G>T (p.Trp240Leu)	rs386833993
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp)	rs1768948534

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