ClinVar Miner

List of variants studied for GM3 synthase deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 383
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HGVS dbSNP gnomAD frequency
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484 0.17151
NM_003896.4(ST3GAL5):c.849+19A>G rs80130823 0.00552
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=) rs149309844 0.00369
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386 0.00354
NM_003896.4(ST3GAL5):c.850-5C>T rs113976691 0.00319
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln) rs141917910 0.00110
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.206+9C>T rs199866359 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.465G>A (p.Glu155=) rs199590656 0.00022
NM_003896.4(ST3GAL5):c.546C>T (p.Asp182=) rs147315816 0.00022
NM_003896.4(ST3GAL5):c.777C>T (p.Asp259=) rs146939269 0.00021
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354 0.00013
NM_003896.4(ST3GAL5):c.204C>T (p.Leu68=) rs535883464 0.00013
NM_003896.4(ST3GAL5):c.544G>A (p.Asp182Asn) rs373571836 0.00013
NM_003896.4(ST3GAL5):c.1012G>A (p.Val338Ile) rs758368552 0.00011
NM_003896.4(ST3GAL5):c.66G>A (p.Ala22=) rs916185846 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.474C>T (p.Tyr158=) rs150855708 0.00007
NM_003896.4(ST3GAL5):c.247C>T (p.Leu83Phe) rs146955794 0.00006
NM_003896.4(ST3GAL5):c.319-7A>T rs373566687 0.00006
NM_003896.4(ST3GAL5):c.459A>G (p.Glu153=) rs555466537 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_003896.4(ST3GAL5):c.385A>G (p.Met129Val) rs374363945 0.00004
NM_003896.4(ST3GAL5):c.522C>G (p.Leu174=) rs766829186 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.414C>T (p.Ser138=) rs368878731 0.00003
NM_003896.4(ST3GAL5):c.415G>A (p.Val139Met) rs377046345 0.00003
NM_003896.4(ST3GAL5):c.426C>G (p.Leu142=) rs775530516 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.1005T>C (p.Asp335=) rs751363552 0.00002
NM_003896.4(ST3GAL5):c.1009-18T>G rs1328215616 0.00002
NM_003896.4(ST3GAL5):c.1009-7T>G rs745988252 0.00002
NM_003896.4(ST3GAL5):c.1011C>T (p.Asn337=) rs777522038 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.206+10G>A rs374393949 0.00002
NM_003896.4(ST3GAL5):c.282del (p.Met94fs) rs1383734078 0.00002
NM_003896.4(ST3GAL5):c.495G>A (p.Arg165=) rs754152337 0.00002
NM_003896.4(ST3GAL5):c.615C>T (p.His205=) rs778464673 0.00002
NM_003896.4(ST3GAL5):c.616G>A (p.Gly206Arg) rs755430767 0.00002
NM_003896.4(ST3GAL5):c.778T>C (p.Leu260=) rs752738939 0.00002
NM_003896.4(ST3GAL5):c.852A>G (p.Pro284=) rs534535305 0.00002
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter) rs104893668 0.00002
NM_003896.4(ST3GAL5):c.1001G>A (p.Arg334Gln) rs757193745 0.00001
NM_003896.4(ST3GAL5):c.1023C>T (p.Ile341=) rs747829287 0.00001
NM_003896.4(ST3GAL5):c.1024G>T (p.Gly342Cys) rs367638648 0.00001
NM_003896.4(ST3GAL5):c.1035C>T (p.Ala345=) rs374941983 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.1170T>C (p.Asn390=) rs1229066524 0.00001
NM_003896.4(ST3GAL5):c.1179G>A (p.Thr393=) rs757685346 0.00001
NM_003896.4(ST3GAL5):c.1229T>C (p.Leu410Pro) rs1287781304 0.00001
NM_003896.4(ST3GAL5):c.144A>G (p.Gln48=) rs1281196341 0.00001
NM_003896.4(ST3GAL5):c.147G>A (p.Trp49Ter) rs778265926 0.00001
NM_003896.4(ST3GAL5):c.154C>G (p.Arg52Gly) rs748497823 0.00001
NM_003896.4(ST3GAL5):c.15G>A (p.Ala5=) rs1688074501 0.00001
NM_003896.4(ST3GAL5):c.176G>A (p.Arg59Lys) rs755169375 0.00001
NM_003896.4(ST3GAL5):c.180C>A (p.Pro60=) rs1175251832 0.00001
NM_003896.4(ST3GAL5):c.18G>A (p.Ala6=) rs988720177 0.00001
NM_003896.4(ST3GAL5):c.198C>T (p.Asp66=) rs948201976 0.00001
NM_003896.4(ST3GAL5):c.211A>G (p.Thr71Ala) rs755223491 0.00001
NM_003896.4(ST3GAL5):c.333T>G (p.Tyr111Ter) rs368298013 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.543C>T (p.His181=) rs1033931934 0.00001
NM_003896.4(ST3GAL5):c.581G>A (p.Arg194His) rs535561837 0.00001
NM_003896.4(ST3GAL5):c.601G>A (p.Gly201Arg) rs771732955 0.00001
NM_003896.4(ST3GAL5):c.662+10T>G rs751684241 0.00001
NM_003896.4(ST3GAL5):c.662+14T>G rs764327639 0.00001
NM_003896.4(ST3GAL5):c.662+9G>T rs762129079 0.00001
NM_003896.4(ST3GAL5):c.663-16C>T rs201822815 0.00001
NM_003896.4(ST3GAL5):c.70C>T (p.Pro24Ser) rs952271385 0.00001
NM_003896.4(ST3GAL5):c.741C>T (p.Gly247=) rs757539559 0.00001
NM_003896.4(ST3GAL5):c.762A>C (p.Glu254Asp) rs1191405507 0.00001
NM_003896.4(ST3GAL5):c.771C>G (p.Ser257=) rs1682805181 0.00001
NM_003896.4(ST3GAL5):c.82+1G>C rs878854615 0.00001
NM_003896.4(ST3GAL5):c.83-4A>G rs1684945585 0.00001
NM_003896.4(ST3GAL5):c.83-9T>A rs1344657294 0.00001
NM_003896.4(ST3GAL5):c.84A>C (p.Ala28=) rs530496667 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
NM_003896.4(ST3GAL5):c.96G>A (p.Glu32=) rs1573652712 0.00001
NM_003896.4(ST3GAL5):c.9G>T (p.Thr3=) rs1359970598 0.00001
NC_000002.11:g.(?_86067247)_(86116048_?)dup
NC_000002.11:g.(?_86067267)_(86332899_?)dup
NC_000002.11:g.(?_86073480)_(86075347_?)del
NC_000002.11:g.(?_86088284)_(86090628_?)del
NC_000002.11:g.(?_86115927)_(86116028_?)dup
NC_000002.12:g.(?_85888804)_(85888925_?)dup
NM_003896.4(ST3GAL5):c.1000C>A (p.Arg334=) rs200541102
NM_003896.4(ST3GAL5):c.1000C>T (p.Arg334Ter) rs200541102
NM_003896.4(ST3GAL5):c.1000del (p.Arg334fs)
NM_003896.4(ST3GAL5):c.1001del (p.Arg334fs)
NM_003896.4(ST3GAL5):c.1003G>C (p.Asp335His)
NM_003896.4(ST3GAL5):c.1008+15A>G
NM_003896.4(ST3GAL5):c.1008+16C>T
NM_003896.4(ST3GAL5):c.1008+1G>A
NM_003896.4(ST3GAL5):c.1008+6T>G rs1682510472
NM_003896.4(ST3GAL5):c.1008+8T>A rs1573580652
NM_003896.4(ST3GAL5):c.1008+9G>A
NM_003896.4(ST3GAL5):c.1008+9G>C
NM_003896.4(ST3GAL5):c.1009-10C>T
NM_003896.4(ST3GAL5):c.1009-11C>T
NM_003896.4(ST3GAL5):c.1009-11_1009-10insTTT
NM_003896.4(ST3GAL5):c.1009-17T>C
NM_003896.4(ST3GAL5):c.1009-19C>G
NM_003896.4(ST3GAL5):c.1009-19C>T
NM_003896.4(ST3GAL5):c.1009-4T>G
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) rs367638648
NM_003896.4(ST3GAL5):c.1040T>C (p.Val347Ala) rs1681871908
NM_003896.4(ST3GAL5):c.104A>G (p.Tyr35Cys)
NM_003896.4(ST3GAL5):c.105T>C (p.Tyr35=)
NM_003896.4(ST3GAL5):c.1077G>A (p.Ala359=)
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.10A>T (p.Lys4Ter)
NM_003896.4(ST3GAL5):c.1101A>G (p.Gln367=)
NM_003896.4(ST3GAL5):c.1109C>T (p.Thr370Ile) rs367760178
NM_003896.4(ST3GAL5):c.1110A>G (p.Thr370=)
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.1134A>G (p.Gln378=)
NM_003896.4(ST3GAL5):c.1143T>C (p.Ala381=)
NM_003896.4(ST3GAL5):c.1164G>A (p.Met388Ile) rs950472318
NM_003896.4(ST3GAL5):c.1192del (p.Leu398fs)
NM_003896.4(ST3GAL5):c.1194C>T (p.Leu398=)
NM_003896.4(ST3GAL5):c.1195T>C (p.Leu399=)
NM_003896.4(ST3GAL5):c.1203G>A (p.Leu401=)
NM_003896.4(ST3GAL5):c.1204G>C (p.Val402Leu)
NM_003896.4(ST3GAL5):c.1206C>G (p.Val402=)
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.1248T>C (p.Arg416=) rs2104583142
NM_003896.4(ST3GAL5):c.124del (p.Cys42fs) rs777319882
NM_003896.4(ST3GAL5):c.129G>A (p.Ser43=) rs776016166
NM_003896.4(ST3GAL5):c.132G>A (p.Arg44=)
NM_003896.4(ST3GAL5):c.141G>A (p.Leu47=)
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.154C>T (p.Arg52Ter)
NM_003896.4(ST3GAL5):c.158C>T (p.Ala53Val) rs2104079423
NM_003896.4(ST3GAL5):c.15G>C (p.Ala5=)
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.180C>T (p.Pro60=)
NM_003896.4(ST3GAL5):c.181A>G (p.Ser61Gly)
NM_003896.4(ST3GAL5):c.182G>A (p.Ser61Asn) rs577828669
NM_003896.4(ST3GAL5):c.183C>T (p.Ser61=) rs2104079146
NM_003896.4(ST3GAL5):c.18G>T (p.Ala6=)
NM_003896.4(ST3GAL5):c.190T>C (p.Leu64=) rs2104079093
NM_003896.4(ST3GAL5):c.206+10G>C
NM_003896.4(ST3GAL5):c.206+13C>A
NM_003896.4(ST3GAL5):c.206+13C>T
NM_003896.4(ST3GAL5):c.206+14C>T
NM_003896.4(ST3GAL5):c.206+15del
NM_003896.4(ST3GAL5):c.206+16G>A
NM_003896.4(ST3GAL5):c.206+18G>A
NM_003896.4(ST3GAL5):c.206+9C>A
NM_003896.4(ST3GAL5):c.207-11T>A
NM_003896.4(ST3GAL5):c.207-11T>C
NM_003896.4(ST3GAL5):c.207-2A>C rs2104059095
NM_003896.4(ST3GAL5):c.207-5T>C rs999605334
NM_003896.4(ST3GAL5):c.207-5del
NM_003896.4(ST3GAL5):c.207-7T>G rs779150485
NM_003896.4(ST3GAL5):c.20G>T (p.Gly7Val)
NM_003896.4(ST3GAL5):c.213A>G (p.Thr71=)
NM_003896.4(ST3GAL5):c.214T>C (p.Leu72=)
NM_003896.4(ST3GAL5):c.230T>C (p.Val77Ala)
NM_003896.4(ST3GAL5):c.246C>A (p.Ile82=)
NM_003896.4(ST3GAL5):c.24C>T (p.Cys8=)
NM_003896.4(ST3GAL5):c.264T>C (p.Thr88=)
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.271G>T (p.Glu91Ter)
NM_003896.4(ST3GAL5):c.27G>A (p.Ala9=) rs2104282150
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.289del (p.Met97fs)
NM_003896.4(ST3GAL5):c.289dup (p.Met97fs)
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.297T>C (p.Tyr99=) rs1423247945
NM_003896.4(ST3GAL5):c.297T>G (p.Tyr99Ter) rs1423247945
NM_003896.4(ST3GAL5):c.303C>T (p.Asp101=) rs2104057979
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+10C>T
NM_003896.4(ST3GAL5):c.318+12del
NM_003896.4(ST3GAL5):c.318+17del
NM_003896.4(ST3GAL5):c.318+18T>A
NM_003896.4(ST3GAL5):c.318+19G>A
NM_003896.4(ST3GAL5):c.318+1del rs1684687070
NM_003896.4(ST3GAL5):c.318+6A>T rs374943174
NM_003896.4(ST3GAL5):c.319-14T>C
NM_003896.4(ST3GAL5):c.319-17G>C
NM_003896.4(ST3GAL5):c.319-18G>A
NM_003896.4(ST3GAL5):c.319-20T>C
NM_003896.4(ST3GAL5):c.326A>G (p.Gln109Arg)
NM_003896.4(ST3GAL5):c.32_39del (p.Arg11fs) rs2104282063
NM_003896.4(ST3GAL5):c.331T>C (p.Tyr111His) rs771210773
NM_003896.4(ST3GAL5):c.332dup (p.Tyr111Ter) rs1683047204
NM_003896.4(ST3GAL5):c.333T>C (p.Tyr111=)
NM_003896.4(ST3GAL5):c.337C>T (p.Gln113Ter)
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.346T>C (p.Leu116=)
NM_003896.4(ST3GAL5):c.34C>T (p.Arg12Cys) rs1688072283
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs) rs754643632
NM_003896.4(ST3GAL5):c.359G>A (p.Cys120Tyr) rs1683042112
NM_003896.4(ST3GAL5):c.359del (p.Cys120fs)
NM_003896.4(ST3GAL5):c.362G>A (p.Arg121His) rs144154879
NM_003896.4(ST3GAL5):c.369G>A (p.Lys123=)
NM_003896.4(ST3GAL5):c.369_371del (p.Lys123_Phe124delinsAsn) rs2103960667
NM_003896.4(ST3GAL5):c.36T>C (p.Arg12=) rs2104282104
NM_003896.4(ST3GAL5):c.372T>A (p.Phe124Leu) rs2103960645
NM_003896.4(ST3GAL5):c.374_381del (p.Ala125fs)
NM_003896.4(ST3GAL5):c.378G>A (p.Lys126=)
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.39C>T (p.Pro13=)
NM_003896.4(ST3GAL5):c.408G>A (p.Arg136=) rs2103960240
NM_003896.4(ST3GAL5):c.408G>T (p.Arg136Ser)
NM_003896.4(ST3GAL5):c.40C>T (p.Leu14=)
NM_003896.4(ST3GAL5):c.40dup (p.Leu14fs)
NM_003896.4(ST3GAL5):c.415G>T (p.Val139Leu) rs377046345
NM_003896.4(ST3GAL5):c.422T>G (p.Leu141Ter)
NM_003896.4(ST3GAL5):c.424C>T (p.Leu142Phe) rs762954685
NM_003896.4(ST3GAL5):c.432T>C (p.Phe144=)
NM_003896.4(ST3GAL5):c.435G>A (p.Val145=)
NM_003896.4(ST3GAL5):c.43C>A (p.Gln15Lys)
NM_003896.4(ST3GAL5):c.443C>T (p.Ala148Val) rs745590126
NM_003896.4(ST3GAL5):c.447C>T (p.Pro149=)
NM_003896.4(ST3GAL5):c.44A>G (p.Gln15Arg) rs1280213817
NM_003896.4(ST3GAL5):c.471G>A (p.Lys157=)
NM_003896.4(ST3GAL5):c.478C>T (p.Pro160Ser)
NM_003896.4(ST3GAL5):c.479C>T (p.Pro160Leu) rs1553405319
NM_003896.4(ST3GAL5):c.47_62del (p.Pro16fs)
NM_003896.4(ST3GAL5):c.480T>C (p.Pro160=)
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.48G>A (p.Pro16=) rs2104282001
NM_003896.4(ST3GAL5):c.493C>T (p.Arg165Trp)
NM_003896.4(ST3GAL5):c.498G>A (p.Lys166=) rs1573596115
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.513C>G (p.Val171=)
NM_003896.4(ST3GAL5):c.518C>T (p.Thr173Ile) rs1558653854
NM_003896.4(ST3GAL5):c.519C>T (p.Thr173=)
NM_003896.4(ST3GAL5):c.51G>A (p.Arg17=)
NM_003896.4(ST3GAL5):c.538G>T (p.Glu180Ter)
NM_003896.4(ST3GAL5):c.561G>C (p.Leu187Phe) rs1683013552
NM_003896.4(ST3GAL5):c.567del (p.Lys190fs) rs2103959087
NM_003896.4(ST3GAL5):c.573C>A (p.Thr191=)
NM_003896.4(ST3GAL5):c.577C>T (p.Arg193Trp)
NM_003896.4(ST3GAL5):c.578G>A (p.Arg193Gln)
NM_003896.4(ST3GAL5):c.582C>T (p.Arg194=)
NM_003896.4(ST3GAL5):c.584G>C (p.Cys195Ser) rs886037930
NM_003896.4(ST3GAL5):c.591T>C (p.Val197=) rs1343530669
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.600C>T (p.Ser200=)
NM_003896.4(ST3GAL5):c.608T>C (p.Ile203Thr) rs932969294
NM_003896.4(ST3GAL5):c.63G>A (p.Ala21=) rs1255248442
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.64del (p.Ala22fs)
NM_003896.4(ST3GAL5):c.662+12T>C
NM_003896.4(ST3GAL5):c.662+13T>C
NM_003896.4(ST3GAL5):c.662+14T>C
NM_003896.4(ST3GAL5):c.662+16T>C
NM_003896.4(ST3GAL5):c.662+17del
NM_003896.4(ST3GAL5):c.662+17dup rs370442067
NM_003896.4(ST3GAL5):c.662+18G>T
NM_003896.4(ST3GAL5):c.662+18_662+19del rs369967911
NM_003896.4(ST3GAL5):c.662+2T>C
NM_003896.4(ST3GAL5):c.662+4C>T
NM_003896.4(ST3GAL5):c.662+7T>C rs765356924
NM_003896.4(ST3GAL5):c.663-1G>A
NM_003896.4(ST3GAL5):c.663-6A>G
NM_003896.4(ST3GAL5):c.666A>G (p.Leu222=)
NM_003896.4(ST3GAL5):c.66G>T (p.Ala22=)
NM_003896.4(ST3GAL5):c.68C>T (p.Ala23Val) rs985025319
NM_003896.4(ST3GAL5):c.690T>C (p.Tyr230=)
NM_003896.4(ST3GAL5):c.694G>T (p.Glu232Ter)
NM_003896.4(ST3GAL5):c.697C>T (p.His233Tyr) rs2103949663
NM_003896.4(ST3GAL5):c.6G>A (p.Arg2=)
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.717T>G (p.Thr239=)
NM_003896.4(ST3GAL5):c.718A>C (p.Ile240Leu) rs1321129818
NM_003896.4(ST3GAL5):c.719T>A (p.Ile240Lys)
NM_003896.4(ST3GAL5):c.72T>A (p.Pro24=)
NM_003896.4(ST3GAL5):c.732T>C (p.Tyr244=)
NM_003896.4(ST3GAL5):c.746C>T (p.Pro249Leu) rs1682807408
NM_003896.4(ST3GAL5):c.747A>G (p.Pro249=)
NM_003896.4(ST3GAL5):c.750G>A (p.Leu250=)
NM_003896.4(ST3GAL5):c.75C>G (p.Ala25=)
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.792T>C (p.Val264=)
NM_003896.4(ST3GAL5):c.794del (p.Leu265fs) rs1444819796
NM_003896.4(ST3GAL5):c.79C>T (p.Arg27Ter) rs1688068423
NM_003896.4(ST3GAL5):c.801G>A (p.Lys267=)
NM_003896.4(ST3GAL5):c.804T>C (p.Ser268=)
NM_003896.4(ST3GAL5):c.80G>A (p.Arg27Gln) rs1688068233
NM_003896.4(ST3GAL5):c.82+10G>A
NM_003896.4(ST3GAL5):c.82+10G>T
NM_003896.4(ST3GAL5):c.82+10dup
NM_003896.4(ST3GAL5):c.82+15C>A
NM_003896.4(ST3GAL5):c.82+19T>C rs2104281541
NM_003896.4(ST3GAL5):c.82+20C>G
NM_003896.4(ST3GAL5):c.82+4C>T rs2104281726
NM_003896.4(ST3GAL5):c.82+7G>A
NM_003896.4(ST3GAL5):c.82+7G>C
NM_003896.4(ST3GAL5):c.82+7G>T
NM_003896.4(ST3GAL5):c.83-14G>A
NM_003896.4(ST3GAL5):c.83-14G>C
NM_003896.4(ST3GAL5):c.83-15C>T
NM_003896.4(ST3GAL5):c.83-16T>C
NM_003896.4(ST3GAL5):c.83-19T>A
NM_003896.4(ST3GAL5):c.83-20C>A
NM_003896.4(ST3GAL5):c.83-20C>T
NM_003896.4(ST3GAL5):c.83-7T>G rs1558681261
NM_003896.4(ST3GAL5):c.831G>A (p.Met277Ile) rs751569436
NM_003896.4(ST3GAL5):c.834A>G (p.Val278=)
NM_003896.4(ST3GAL5):c.849+13A>G
NM_003896.4(ST3GAL5):c.849+14C>A rs773953439
NM_003896.4(ST3GAL5):c.849+17C>A
NM_003896.4(ST3GAL5):c.849+17C>T
NM_003896.4(ST3GAL5):c.850-12del rs751917635
NM_003896.4(ST3GAL5):c.850-1G>A rs2103936382
NM_003896.4(ST3GAL5):c.850-20T>G
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>G (p.Val287=)
NM_003896.4(ST3GAL5):c.895dup (p.Ile299fs)
NM_003896.4(ST3GAL5):c.8C>G (p.Thr3Arg) rs913893607
NM_003896.4(ST3GAL5):c.909A>G (p.Pro303=) rs2103935807
NM_003896.4(ST3GAL5):c.922A>G (p.Ile308Val) rs1444325254
NM_003896.4(ST3GAL5):c.936T>A (p.Val312=)
NM_003896.4(ST3GAL5):c.951T>C (p.Thr317=)
NM_003896.4(ST3GAL5):c.954C>G (p.Ala318=) rs1282618157
NM_003896.4(ST3GAL5):c.963C>G (p.Ile321Met) rs1395818245
NM_003896.4(ST3GAL5):c.984G>A (p.Gln328=) rs1573580842
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)
NM_003896.4(ST3GAL5):c.999C>T (p.Gly333=)
NM_003896.4(ST3GAL5):c.9G>A (p.Thr3=)

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