ClinVar Miner

List of variants studied for GM3 synthase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_003896.3(ST3GAL5):c.-141T>C rs28364794 0.49269
NM_003896.3(ST3GAL5):c.-140C>A rs28364795 0.32699
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484 0.17151
NM_003896.4(ST3GAL5):c.*482G>A rs115544178 0.00535
NM_003896.4(ST3GAL5):c.*594G>A rs116456890 0.00476
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=) rs149309844 0.00369
NM_003896.4(ST3GAL5):c.*415T>C rs112372963 0.00361
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386 0.00354
NM_003896.3(ST3GAL5):c.-91G>A rs879798501 0.00197
NM_003896.4(ST3GAL5):c.390G>A (p.Ala130=) rs144270260 0.00101
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=) rs148195895 0.00070
NM_003896.4(ST3GAL5):c.389C>T (p.Ala130Val) rs140019292 0.00044
NM_003896.4(ST3GAL5):c.*432G>A rs753191965 0.00031
NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu) rs200683924 0.00028
NM_003896.4(ST3GAL5):c.1036G>A (p.Val346Ile) rs145738225 0.00025
NM_003896.4(ST3GAL5):c.*69A>G rs886056391 0.00022
NM_003896.4(ST3GAL5):c.465G>A (p.Glu155=) rs199590656 0.00022
NM_003896.4(ST3GAL5):c.*756G>A rs773333831 0.00014
NM_003896.4(ST3GAL5):c.*976G>T rs775357214 0.00013
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354 0.00013
NM_003896.4(ST3GAL5):c.*678C>T rs188807604 0.00012
NM_003896.4(ST3GAL5):c.580C>T (p.Arg194Cys) rs377626779 0.00009
NM_003896.4(ST3GAL5):c.*115C>T rs193077813 0.00007
NM_003896.4(ST3GAL5):c.*355G>A rs573408903 0.00006
NM_003896.4(ST3GAL5):c.*412C>T rs777207755 0.00006
NM_003896.3(ST3GAL5):c.-95G>T rs1271027038 0.00004
NM_003896.4(ST3GAL5):c.1163T>C (p.Met388Thr) rs755800174 0.00003
NM_003896.4(ST3GAL5):c.20G>A (p.Gly7Asp) rs752086854 0.00003
NM_003896.4(ST3GAL5):c.415G>A (p.Val139Met) rs377046345 0.00003
NM_003896.4(ST3GAL5):c.849+15T>G rs768216151 0.00003
NM_003896.4(ST3GAL5):c.973T>G (p.Ser325Ala) rs146542693 0.00003
NM_003896.4(ST3GAL5):c.*323C>G rs886056390 0.00002
NM_003896.4(ST3GAL5):c.*455G>A rs886056388 0.00002
NM_003896.4(ST3GAL5):c.1059C>T (p.Cys353=) rs149801673 0.00002
NM_003896.4(ST3GAL5):c.852A>G (p.Pro284=) rs534535305 0.00002
NM_003896.4(ST3GAL5):c.*607C>T rs535114385 0.00001
NM_003896.4(ST3GAL5):c.*944C>T rs761892496 0.00001
NM_003896.4(ST3GAL5):c.82+1G>C rs878854615 0.00001
NM_003896.4(ST3GAL5):c.84A>C (p.Ala28=) rs530496667 0.00001
NM_003896.3(ST3GAL5):c.-102G>C rs886056395
NM_003896.3(ST3GAL5):c.-103G>C rs947227790
NM_003896.3(ST3GAL5):c.-99G>A rs1045409068
NM_003896.4(ST3GAL5):c.*1001G>A rs573396724
NM_003896.4(ST3GAL5):c.*140A>T rs531229046
NM_003896.4(ST3GAL5):c.*140del rs550737011
NM_003896.4(ST3GAL5):c.*147C>T rs1017206945
NM_003896.4(ST3GAL5):c.*260G>A rs112475538
NM_003896.4(ST3GAL5):c.*344C>T rs1681790908
NM_003896.4(ST3GAL5):c.*363A>C rs886056389
NM_003896.4(ST3GAL5):c.*609G>C rs886056387
NM_003896.4(ST3GAL5):c.*649C>T rs1681754258
NM_003896.4(ST3GAL5):c.*950G>A rs886056386
NM_003896.4(ST3GAL5):c.-43G>T rs928733801
NM_003896.4(ST3GAL5):c.-53G>A rs886056394
NM_003896.4(ST3GAL5):c.119G>T (p.Ser40Ile) rs939599344
NM_003896.4(ST3GAL5):c.337C>T (p.Gln113Ter)
NM_003896.4(ST3GAL5):c.415G>T (p.Val139Leu) rs377046345
NM_003896.4(ST3GAL5):c.556C>T (p.His186Tyr) rs886056393
NM_003896.4(ST3GAL5):c.861A>T (p.Val287=) rs886056392

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