ClinVar Miner

List of variants studied for Sialic acid storage disease, severe infantile type by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.*971G>A rs670248 0.38715
NM_012434.5(SLC17A5):c.*385C>G rs3734518 0.26106
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_012434.5(SLC17A5):c.*193A>G rs3734517 0.05453
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=) rs3757112 0.05389
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_012434.5(SLC17A5):c.*909C>T rs142349844 0.01560
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930 0.01342
NM_012434.5(SLC17A5):c.*560G>A rs115453489 0.00594
NM_012434.5(SLC17A5):c.820-3C>T rs12201641 0.00436
NM_012434.5(SLC17A5):c.*588G>A rs533473425 0.00317
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val) rs34348416 0.00257
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_012434.5(SLC17A5):c.*1565C>T rs543558815 0.00164
NM_012434.5(SLC17A5):c.*1492C>G rs148144074 0.00162
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.85G>A (p.Ala29Thr) rs141463026 0.00098
NM_012434.5(SLC17A5):c.*1533A>G rs530389010 0.00078
NM_012434.5(SLC17A5):c.*799T>C rs529408804 0.00067
NM_012434.5(SLC17A5):c.*1630G>T rs141885984 0.00053
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.-86A>T rs886061737 0.00003
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.*764G>A rs139964473
NM_012434.5(SLC17A5):c.-56C>G rs886061736
NM_012434.5(SLC17A5):c.-73C>A rs1769998487
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.