List of variants in gene ST3GAL5 reported as likely benign for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 151

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HGVS	dbSNP	gnomAD frequency
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=)	rs149309844	0.00369
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.*115C>T	rs193077813	0.00007
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.180C>A (p.Pro60=)	rs1175251832	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.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.180C>T (p.Pro60=)
NM_003896.4(ST3GAL5):c.183C>T (p.Ser61=)	rs2104079146
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.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.264T>C (p.Thr88=)
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.378G>A (p.Lys126=)
NM_003896.4(ST3GAL5):c.408G>A (p.Arg136=)	rs2103960240
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.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.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.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.690T>C (p.Tyr230=)
NM_003896.4(ST3GAL5):c.717T>G (p.Thr239=)
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.792T>C (p.Val264=)
NM_003896.4(ST3GAL5):c.804T>C (p.Ser268=)
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=)

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