ClinVar Miner

List of variants studied for Sialic acid storage disease, severe infantile type

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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.979-87A>G rs628038 0.43140
NM_012434.5(SLC17A5):c.*971G>A rs670248 0.38715
NM_012434.5(SLC17A5):c.1112-36G>A rs4708065 0.32463
NM_012434.5(SLC17A5):c.*385C>G rs3734518 0.26106
NM_012434.5(SLC17A5):c.526-106G>T rs3757111 0.22477
NM_012434.5(SLC17A5):c.819+52G>A rs520589 0.16798
NM_012434.5(SLC17A5):c.819+79T>G rs558839 0.16769
NM_012434.5(SLC17A5):c.820-51C>G rs611580 0.16614
NM_012434.5(SLC17A5):c.978+70G>A rs610260 0.16613
NM_012434.5(SLC17A5):c.978+88C>T rs474661 0.16611
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_012434.5(SLC17A5):c.979-33G>A rs12199937 0.05489
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.292-22T>C rs12206001 0.05386
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.115C>T (p.Arg39Cys) rs80338794 0.00049
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.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_012434.5(SLC17A5):c.*1692G>A rs540786941 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 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.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.1272C>A (p.Ile424=) rs374241516 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
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=) rs924683894 0.00001
NG_008272.1:g.(37212_43567)_(48616_58573)del
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.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.1045G>A (p.Ala349Thr) rs1767808770
NM_012434.5(SLC17A5):c.1111G>A (p.Gly371Arg) rs1277966688
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.409del (p.Met137fs) rs794729653
NM_012434.5(SLC17A5):c.467_525+125del
NM_012434.5(SLC17A5):c.525+36G>C rs12192476
NM_012434.5(SLC17A5):c.527G>T (p.Gly176Val)
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.719G>T (p.Trp240Leu) rs386833993
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs) rs753141230
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp) rs1768948534
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
SLC17A5, 500-BP INS, NT978

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