ClinVar Miner

List of variants reported as uncertain significance for GM3 synthase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_003896.4(ST3GAL5):c.*415T>C rs112372963 0.00361
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.*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.544G>A (p.Asp182Asn) rs373571836 0.00013
NM_003896.4(ST3GAL5):c.*678C>T rs188807604 0.00012
NM_003896.4(ST3GAL5):c.1012G>A (p.Val338Ile) rs758368552 0.00011
NM_003896.4(ST3GAL5):c.1126G>A (p.Asp376Asn) rs147305893 0.00009
NM_003896.4(ST3GAL5):c.319-8C>A rs553252258 0.00009
NM_003896.4(ST3GAL5):c.356A>G (p.Glu119Gly) rs368983131 0.00009
NM_003896.4(ST3GAL5):c.580C>T (p.Arg194Cys) rs377626779 0.00009
NM_003896.4(ST3GAL5):c.1129A>G (p.Ser377Gly) rs748173859 0.00008
NM_003896.4(ST3GAL5):c.*355G>A rs573408903 0.00006
NM_003896.4(ST3GAL5):c.*412C>T rs777207755 0.00006
NM_003896.4(ST3GAL5):c.247C>T (p.Leu83Phe) rs146955794 0.00006
NM_003896.4(ST3GAL5):c.738G>C (p.Glu246Asp) rs755264272 0.00006
NM_003896.4(ST3GAL5):c.11A>T (p.Lys4Met) rs1399913199 0.00005
NM_003896.4(ST3GAL5):c.7A>T (p.Thr3Ser) rs1441880596 0.00005
NM_003896.3(ST3GAL5):c.-95G>T rs1271027038 0.00004
NM_003896.4(ST3GAL5):c.385A>G (p.Met129Val) rs374363945 0.00004
NM_003896.4(ST3GAL5):c.856T>A (p.Trp286Arg) rs570665646 0.00004
NM_003896.4(ST3GAL5):c.923T>C (p.Ile308Thr) rs372467220 0.00004
NM_003896.4(ST3GAL5):c.1163T>C (p.Met388Thr) rs755800174 0.00003
NM_003896.4(ST3GAL5):c.1178C>T (p.Thr393Met) rs184227271 0.00003
NM_003896.4(ST3GAL5):c.20G>A (p.Gly7Asp) rs752086854 0.00003
NM_003896.4(ST3GAL5):c.282G>T (p.Met94Ile) rs758280289 0.00003
NM_003896.4(ST3GAL5):c.415G>A (p.Val139Met) rs377046345 0.00003
NM_003896.4(ST3GAL5):c.663-4A>G rs768252447 0.00003
NM_003896.4(ST3GAL5):c.82+5G>T rs1014430106 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.1093C>G (p.Leu365Val) rs775647232 0.00002
NM_003896.4(ST3GAL5):c.1246C>T (p.Arg416Cys) rs768727734 0.00002
NM_003896.4(ST3GAL5):c.616G>A (p.Gly206Arg) rs755430767 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.1001G>A (p.Arg334Gln) rs757193745 0.00001
NM_003896.4(ST3GAL5):c.1024G>T (p.Gly342Cys) rs367638648 0.00001
NM_003896.4(ST3GAL5):c.1076C>T (p.Ala359Val) rs201425015 0.00001
NM_003896.4(ST3GAL5):c.1096A>G (p.Asn366Asp) rs1434714004 0.00001
NM_003896.4(ST3GAL5):c.1105A>G (p.Arg369Gly) rs745878094 0.00001
NM_003896.4(ST3GAL5):c.1165C>G (p.His389Asp) rs140151286 0.00001
NM_003896.4(ST3GAL5):c.1229T>C (p.Leu410Pro) rs1287781304 0.00001
NM_003896.4(ST3GAL5):c.154C>G (p.Arg52Gly) rs748497823 0.00001
NM_003896.4(ST3GAL5):c.176G>A (p.Arg59Lys) rs755169375 0.00001
NM_003896.4(ST3GAL5):c.211A>G (p.Thr71Ala) rs755223491 0.00001
NM_003896.4(ST3GAL5):c.361C>T (p.Arg121Cys) rs779973935 0.00001
NM_003896.4(ST3GAL5):c.418G>A (p.Asp140Asn) rs1159398814 0.00001
NM_003896.4(ST3GAL5):c.422T>C (p.Leu141Ser) rs772327731 0.00001
NM_003896.4(ST3GAL5):c.475G>A (p.Asp159Asn) rs1449113934 0.00001
NM_003896.4(ST3GAL5):c.494G>A (p.Arg165Gln) rs755483443 0.00001
NM_003896.4(ST3GAL5):c.541C>T (p.His181Tyr) rs750698842 0.00001
NM_003896.4(ST3GAL5):c.581G>A (p.Arg194His) rs535561837 0.00001
NM_003896.4(ST3GAL5):c.70C>T (p.Pro24Ser) rs952271385 0.00001
NM_003896.4(ST3GAL5):c.762A>C (p.Glu254Asp) rs1191405507 0.00001
NM_003896.4(ST3GAL5):c.82+1G>C rs878854615 0.00001
NM_003896.4(ST3GAL5):c.863G>A (p.Arg288Gln) rs761548748 0.00001
NM_003896.4(ST3GAL5):c.8C>A (p.Thr3Lys) rs913893607 0.00001
NM_003896.4(ST3GAL5):c.957T>G (p.Phe319Leu) rs747318909 0.00001
NC_000002.11:g.(?_86067247)_(86116048_?)dup
NC_000002.11:g.(?_86067267)_(86332899_?)dup
NC_000002.11:g.(?_86115927)_(86116028_?)dup
NC_000002.12:g.(?_85888804)_(85888925_?)dup
NM_001372574.1(ATXN2):c.176_190del (p.Val59_Ser63del) rs778119853
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.1003G>C (p.Asp335His)
NM_003896.4(ST3GAL5):c.1008+6T>G rs1682510472
NM_003896.4(ST3GAL5):c.1040T>C (p.Val347Ala) rs1681871908
NM_003896.4(ST3GAL5):c.104A>G (p.Tyr35Cys)
NM_003896.4(ST3GAL5):c.1060G>A (p.Asp354Asn) rs749966729
NM_003896.4(ST3GAL5):c.1079G>A (p.Gly360Asp) rs1313087028
NM_003896.4(ST3GAL5):c.1093C>T (p.Leu365Phe)
NM_003896.4(ST3GAL5):c.1097A>G (p.Asn366Ser) rs1681862398
NM_003896.4(ST3GAL5):c.1109C>T (p.Thr370Ile) rs367760178
NM_003896.4(ST3GAL5):c.1117C>T (p.His373Tyr) rs2104584101
NM_003896.4(ST3GAL5):c.1126G>C (p.Asp376His) rs147305893
NM_003896.4(ST3GAL5):c.1164G>A (p.Met388Ile) rs950472318
NM_003896.4(ST3GAL5):c.1192del (p.Leu398fs)
NM_003896.4(ST3GAL5):c.119G>T (p.Ser40Ile) rs939599344
NM_003896.4(ST3GAL5):c.1204G>C (p.Val402Leu)
NM_003896.4(ST3GAL5):c.1244A>T (p.Asp415Val) rs1681837789
NM_003896.4(ST3GAL5):c.1247G>A (p.Arg416His) rs200683924
NM_003896.4(ST3GAL5):c.143A>C (p.Gln48Pro)
NM_003896.4(ST3GAL5):c.149A>G (p.Tyr50Cys) rs2104079623
NM_003896.4(ST3GAL5):c.152C>G (p.Thr51Ser) rs1326738565
NM_003896.4(ST3GAL5):c.158C>T (p.Ala53Val) rs2104079423
NM_003896.4(ST3GAL5):c.161A>C (p.Gln54Pro) rs1684934747
NM_003896.4(ST3GAL5):c.167A>G (p.Lys56Arg) rs1336784366
NM_003896.4(ST3GAL5):c.16G>A (p.Ala6Thr) rs1688074283
NM_003896.4(ST3GAL5):c.181A>G (p.Ser61Gly)
NM_003896.4(ST3GAL5):c.182G>A (p.Ser61Asn) rs577828669
NM_003896.4(ST3GAL5):c.20G>T (p.Gly7Val)
NM_003896.4(ST3GAL5):c.230T>C (p.Val77Ala)
NM_003896.4(ST3GAL5):c.266C>T (p.Thr89Ile) rs1684692890
NM_003896.4(ST3GAL5):c.26C>G (p.Ala9Gly) rs1297672649
NM_003896.4(ST3GAL5):c.287_289del (p.Lys96del) rs779767507
NM_003896.4(ST3GAL5):c.288A>T (p.Lys96Asn) rs2104058271
NM_003896.4(ST3GAL5):c.296A>G (p.Tyr99Cys) rs568003096
NM_003896.4(ST3GAL5):c.296A>T (p.Tyr99Phe) rs568003096
NM_003896.4(ST3GAL5):c.304C>G (p.Pro102Ala) rs753590309
NM_003896.4(ST3GAL5):c.311A>T (p.His104Leu) rs1138484
NM_003896.4(ST3GAL5):c.318+6A>T rs374943174
NM_003896.4(ST3GAL5):c.319-14T>C
NM_003896.4(ST3GAL5):c.326A>G (p.Gln109Arg)
NM_003896.4(ST3GAL5):c.331T>C (p.Tyr111His) rs771210773
NM_003896.4(ST3GAL5):c.343G>A (p.Val115Ile) rs768713355
NM_003896.4(ST3GAL5):c.344T>A (p.Val115Asp) rs1370274550
NM_003896.4(ST3GAL5):c.34C>T (p.Arg12Cys) rs1688072283
NM_003896.4(ST3GAL5):c.359G>A (p.Cys120Tyr) rs1683042112
NM_003896.4(ST3GAL5):c.362G>A (p.Arg121His) rs144154879
NM_003896.4(ST3GAL5):c.369_371del (p.Lys123_Phe124delinsAsn) rs2103960667
NM_003896.4(ST3GAL5):c.372T>A (p.Phe124Leu) rs2103960645
NM_003896.4(ST3GAL5):c.379A>G (p.Thr127Ala) rs907536067
NM_003896.4(ST3GAL5):c.37C>A (p.Pro13Thr) rs559756386
NM_003896.4(ST3GAL5):c.408G>T (p.Arg136Ser)
NM_003896.4(ST3GAL5):c.415G>T (p.Val139Leu) rs377046345
NM_003896.4(ST3GAL5):c.424C>T (p.Leu142Phe) rs762954685
NM_003896.4(ST3GAL5):c.43C>A (p.Gln15Lys)
NM_003896.4(ST3GAL5):c.443C>T (p.Ala148Val) rs745590126
NM_003896.4(ST3GAL5):c.44A>G (p.Gln15Arg) rs1280213817
NM_003896.4(ST3GAL5):c.478C>T (p.Pro160Ser)
NM_003896.4(ST3GAL5):c.479C>A (p.Pro160His) rs1553405319
NM_003896.4(ST3GAL5):c.479C>T (p.Pro160Leu) rs1553405319
NM_003896.4(ST3GAL5):c.481C>T (p.Pro161Ser) rs2103959617
NM_003896.4(ST3GAL5):c.482C>T (p.Pro161Leu) rs1683022718
NM_003896.4(ST3GAL5):c.488G>A (p.Gly163Glu) rs1573596219
NM_003896.4(ST3GAL5):c.493C>T (p.Arg165Trp)
NM_003896.4(ST3GAL5):c.4C>G (p.Arg2Gly) rs1688076303
NM_003896.4(ST3GAL5):c.4C>T (p.Arg2Trp) rs1688076303
NM_003896.4(ST3GAL5):c.503C>T (p.Ser168Phe)
NM_003896.4(ST3GAL5):c.509A>G (p.Lys170Arg) rs2103959368
NM_003896.4(ST3GAL5):c.518C>T (p.Thr173Ile) rs1558653854
NM_003896.4(ST3GAL5):c.556C>T (p.His186Tyr) rs886056393
NM_003896.4(ST3GAL5):c.561G>C (p.Leu187Phe) rs1683013552
NM_003896.4(ST3GAL5):c.577C>T (p.Arg193Trp)
NM_003896.4(ST3GAL5):c.578G>A (p.Arg193Gln)
NM_003896.4(ST3GAL5):c.592A>T (p.Ile198Phe) rs2103958837
NM_003896.4(ST3GAL5):c.5G>T (p.Arg2Leu) rs1469697796
NM_003896.4(ST3GAL5):c.608T>C (p.Ile203Thr) rs932969294
NM_003896.4(ST3GAL5):c.649G>A (p.Asp217Asn) rs767789131
NM_003896.4(ST3GAL5):c.649G>C (p.Asp217His) rs767789131
NM_003896.4(ST3GAL5):c.651TGT[1] (p.Val219del)
NM_003896.4(ST3GAL5):c.662+4C>T
NM_003896.4(ST3GAL5):c.68C>T (p.Ala23Val) rs985025319
NM_003896.4(ST3GAL5):c.697C>T (p.His233Tyr) rs2103949663
NM_003896.4(ST3GAL5):c.701T>G (p.Val234Gly)
NM_003896.4(ST3GAL5):c.703G>A (p.Gly235Arg) rs1682812794
NM_003896.4(ST3GAL5):c.70C>A (p.Pro24Thr)
NM_003896.4(ST3GAL5):c.715A>G (p.Thr239Ala) rs1682811858
NM_003896.4(ST3GAL5):c.718A>C (p.Ile240Leu) rs1321129818
NM_003896.4(ST3GAL5):c.719T>A (p.Ile240Lys)
NM_003896.4(ST3GAL5):c.746C>T (p.Pro249Leu) rs1682807408
NM_003896.4(ST3GAL5):c.770C>G (p.Ser257Cys) rs2103949125
NM_003896.4(ST3GAL5):c.77G>C (p.Gly26Ala) rs1688068633
NM_003896.4(ST3GAL5):c.801G>A (p.Lys267=)
NM_003896.4(ST3GAL5):c.80G>A (p.Arg27Gln) rs1688068233
NM_003896.4(ST3GAL5):c.82+4C>T rs2104281726
NM_003896.4(ST3GAL5):c.831G>A (p.Met277Ile) rs751569436
NM_003896.4(ST3GAL5):c.850C>T (p.Pro284Ser) rs1682539144
NM_003896.4(ST3GAL5):c.860T>C (p.Val287Ala)
NM_003896.4(ST3GAL5):c.861A>T (p.Val287=) rs886056392
NM_003896.4(ST3GAL5):c.8C>G (p.Thr3Arg) rs913893607
NM_003896.4(ST3GAL5):c.922A>G (p.Ile308Val) rs1444325254
NM_003896.4(ST3GAL5):c.963C>G (p.Ile321Met) rs1395818245
NM_003896.4(ST3GAL5):c.984G>T (p.Gln328His) rs1573580842
NM_003896.4(ST3GAL5):c.997G>A (p.Gly333Ser) rs2103935120
NM_003896.4(ST3GAL5):c.998del (p.Gly333fs)

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