ClinVar Miner

List of variants reported as likely benign for GM3 synthase deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln) rs141917910 0.00110
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.1036G>A (p.Val346Ile) rs145738225 0.00025
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.204C>T (p.Leu68=) rs535883464 0.00013
NM_003896.4(ST3GAL5):c.66G>A (p.Ala22=) rs916185846 0.00011
NM_003896.4(ST3GAL5):c.474C>T (p.Tyr158=) rs150855708 0.00007
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.522C>G (p.Leu174=) rs766829186 0.00004
NM_003896.4(ST3GAL5):c.414C>T (p.Ser138=) rs368878731 0.00003
NM_003896.4(ST3GAL5):c.426C>G (p.Leu142=) rs775530516 0.00003
NM_003896.4(ST3GAL5):c.849+15T>G rs768216151 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.206+10G>A rs374393949 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.778T>C (p.Leu260=) rs752738939 0.00002
NM_003896.4(ST3GAL5):c.852A>G (p.Pro284=) rs534535305 0.00002
NM_003896.4(ST3GAL5):c.1023C>T (p.Ile341=) rs747829287 0.00001
NM_003896.4(ST3GAL5):c.1035C>T (p.Ala345=) rs374941983 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.144A>G (p.Gln48=) rs1281196341 0.00001
NM_003896.4(ST3GAL5):c.15G>A (p.Ala5=) rs1688074501 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.543C>T (p.His181=) rs1033931934 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.741C>T (p.Gly247=) rs757539559 0.00001
NM_003896.4(ST3GAL5):c.771C>G (p.Ser257=) rs1682805181 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.96G>A (p.Glu32=) rs1573652712 0.00001
NM_003896.4(ST3GAL5):c.9G>T (p.Thr3=) rs1359970598 0.00001
NM_003896.4(ST3GAL5):c.1000C>A (p.Arg334=) rs200541102
NM_003896.4(ST3GAL5):c.1008+15A>G
NM_003896.4(ST3GAL5):c.1008+16C>T
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.105T>C (p.Tyr35=)
NM_003896.4(ST3GAL5):c.1077G>A (p.Ala359=)
NM_003896.4(ST3GAL5):c.1101A>G (p.Gln367=)
NM_003896.4(ST3GAL5):c.1110A>G (p.Thr370=)
NM_003896.4(ST3GAL5):c.1134A>G (p.Gln378=)
NM_003896.4(ST3GAL5):c.1143T>C (p.Ala381=)
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.1206C>G (p.Val402=)
NM_003896.4(ST3GAL5):c.1248T>C (p.Arg416=) rs2104583142
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.15G>C (p.Ala5=)
NM_003896.4(ST3GAL5):c.180C>T (p.Pro60=)
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.207-5T>C rs999605334
NM_003896.4(ST3GAL5):c.207-7T>G rs779150485
NM_003896.4(ST3GAL5):c.213A>G (p.Thr71=)
NM_003896.4(ST3GAL5):c.214T>C (p.Leu72=)
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.27G>A (p.Ala9=) rs2104282150
NM_003896.4(ST3GAL5):c.297T>C (p.Tyr99=) rs1423247945
NM_003896.4(ST3GAL5):c.303C>T (p.Asp101=) rs2104057979
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.319-17G>C
NM_003896.4(ST3GAL5):c.319-18G>A
NM_003896.4(ST3GAL5):c.319-20T>C
NM_003896.4(ST3GAL5):c.333T>C (p.Tyr111=)
NM_003896.4(ST3GAL5):c.346T>C (p.Leu116=)
NM_003896.4(ST3GAL5):c.369G>A (p.Lys123=)
NM_003896.4(ST3GAL5):c.36T>C (p.Arg12=) rs2104282104
NM_003896.4(ST3GAL5):c.378G>A (p.Lys126=)
NM_003896.4(ST3GAL5):c.39C>T (p.Pro13=)
NM_003896.4(ST3GAL5):c.408G>A (p.Arg136=) rs2103960240
NM_003896.4(ST3GAL5):c.40C>T (p.Leu14=)
NM_003896.4(ST3GAL5):c.432T>C (p.Phe144=)
NM_003896.4(ST3GAL5):c.435G>A (p.Val145=)
NM_003896.4(ST3GAL5):c.447C>T (p.Pro149=)
NM_003896.4(ST3GAL5):c.471G>A (p.Lys157=)
NM_003896.4(ST3GAL5):c.480T>C (p.Pro160=)
NM_003896.4(ST3GAL5):c.48G>A (p.Pro16=) rs2104282001
NM_003896.4(ST3GAL5):c.498G>A (p.Lys166=) rs1573596115
NM_003896.4(ST3GAL5):c.513C>G (p.Val171=)
NM_003896.4(ST3GAL5):c.519C>T (p.Thr173=)
NM_003896.4(ST3GAL5):c.51G>A (p.Arg17=)
NM_003896.4(ST3GAL5):c.573C>A (p.Thr191=)
NM_003896.4(ST3GAL5):c.582C>T (p.Arg194=)
NM_003896.4(ST3GAL5):c.591T>C (p.Val197=) rs1343530669
NM_003896.4(ST3GAL5):c.600C>T (p.Ser200=)
NM_003896.4(ST3GAL5):c.63G>A (p.Ala21=) rs1255248442
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+18G>T
NM_003896.4(ST3GAL5):c.662+7T>C rs765356924
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.690T>C (p.Tyr230=)
NM_003896.4(ST3GAL5):c.6G>A (p.Arg2=)
NM_003896.4(ST3GAL5):c.717T>G (p.Thr239=)
NM_003896.4(ST3GAL5):c.72T>A (p.Pro24=)
NM_003896.4(ST3GAL5):c.732T>C (p.Tyr244=)
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.792T>C (p.Val264=)
NM_003896.4(ST3GAL5):c.804T>C (p.Ser268=)
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+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.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.850-20T>G
NM_003896.4(ST3GAL5):c.861A>G (p.Val287=)
NM_003896.4(ST3GAL5):c.909A>G (p.Pro303=) rs2103935807
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.984G>A (p.Gln328=) rs1573580842
NM_003896.4(ST3GAL5):c.999C>T (p.Gly333=)
NM_003896.4(ST3GAL5):c.9G>A (p.Thr3=)

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