ClinVar Miner

List of variants reported as likely benign for Marinesco-Sjögren syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 118
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_022464.5(SIL1):c.152C>T (p.Thr51Ile) rs144192049 0.00310
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251 0.00222
NM_022464.5(SIL1):c.1030-14G>A rs184154914 0.00148
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_022464.5(SIL1):c.1161G>A (p.Ala387=) rs140171020 0.00033
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00029
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_022464.5(SIL1):c.1206C>T (p.Gly402=) rs146164392 0.00028
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377 0.00019
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00017
NM_022464.5(SIL1):c.1326C>T (p.Asp442=) rs375567857 0.00010
NM_022464.5(SIL1):c.849C>T (p.Leu283=) rs372816951 0.00010
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_022464.5(SIL1):c.993C>T (p.Arg331=) rs201009798 0.00009
NM_022464.5(SIL1):c.1029+7G>A rs371041584 0.00008
NM_022464.5(SIL1):c.1125A>G (p.Glu375=) rs149424114 0.00005
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_022464.5(SIL1):c.987C>T (p.Ala329=) rs758596676 0.00003
NM_022464.5(SIL1):c.1005G>A (p.Leu335=) rs751082361 0.00001
NM_022464.5(SIL1):c.1347G>A (p.Leu449=) rs1458642130 0.00001
NM_022464.5(SIL1):c.69C>T (p.Ala23=) rs756893810 0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401 0.00001
NM_022464.5(SIL1):c.795C>T (p.Ile265=) rs746589509 0.00001
NM_022464.5(SIL1):c.807C>T (p.Ala269=) rs200359743 0.00001
NM_022464.5(SIL1):c.-94G>C
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
NM_022464.5(SIL1):c.1011C>T (p.Tyr337=)
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) rs769587333
NM_022464.5(SIL1):c.1023G>A (p.Thr341=)
NM_022464.5(SIL1):c.1029+12_1029+17del
NM_022464.5(SIL1):c.1029+14C>T
NM_022464.5(SIL1):c.1029+15C>T
NM_022464.5(SIL1):c.1030-10C>T
NM_022464.5(SIL1):c.1030-19C>T
NM_022464.5(SIL1):c.1030-6T>G
NM_022464.5(SIL1):c.1030-9G>T
NM_022464.5(SIL1):c.1035C>T (p.Phe345=)
NM_022464.5(SIL1):c.1038C>T (p.Ala346=)
NM_022464.5(SIL1):c.105+20A>G
NM_022464.5(SIL1):c.105+8T>C
NM_022464.5(SIL1):c.1071C>T (p.Ser357=)
NM_022464.5(SIL1):c.1086G>A (p.Gln362=)
NM_022464.5(SIL1):c.1095C>T (p.Arg365=)
NM_022464.5(SIL1):c.1107C>T (p.Leu369=)
NM_022464.5(SIL1):c.1146G>A (p.Thr382=)
NM_022464.5(SIL1):c.1156C>T (p.Leu386=)
NM_022464.5(SIL1):c.1218C>A (p.Thr406=)
NM_022464.5(SIL1):c.1218C>T (p.Thr406=)
NM_022464.5(SIL1):c.1263A>G (p.Thr421=) rs1157233880
NM_022464.5(SIL1):c.1275G>A (p.Leu425=)
NM_022464.5(SIL1):c.1317T>C (p.Asp439=)
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.1356T>C (p.Ser452=)
NM_022464.5(SIL1):c.135G>A (p.Lys45=)
NM_022464.5(SIL1):c.1368G>A (p.Leu456=)
NM_022464.5(SIL1):c.1380G>C (p.Leu460=)
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
NM_022464.5(SIL1):c.199C>T (p.Leu67=)
NM_022464.5(SIL1):c.213C>T (p.His71=)
NM_022464.5(SIL1):c.216G>A (p.Pro72=)
NM_022464.5(SIL1):c.219G>A (p.Thr73=)
NM_022464.5(SIL1):c.244+11del
NM_022464.5(SIL1):c.244+17T>C
NM_022464.5(SIL1):c.244+8G>A
NM_022464.5(SIL1):c.245-15C>A
NM_022464.5(SIL1):c.255C>T (p.Val85=)
NM_022464.5(SIL1):c.261A>G (p.Ala87=)
NM_022464.5(SIL1):c.267C>A (p.Ser89=)
NM_022464.5(SIL1):c.270C>T (p.His90=)
NM_022464.5(SIL1):c.276G>A (p.Arg92=)
NM_022464.5(SIL1):c.348C>G (p.Gly116=)
NM_022464.5(SIL1):c.353+12A>G
NM_022464.5(SIL1):c.366C>T (p.Asn122=)
NM_022464.5(SIL1):c.369C>G (p.Thr123=)
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
NM_022464.5(SIL1):c.453+14T>C
NM_022464.5(SIL1):c.454-10C>G
NM_022464.5(SIL1):c.454-8C>G
NM_022464.5(SIL1):c.454-8C>T
NM_022464.5(SIL1):c.471A>T (p.Val157=)
NM_022464.5(SIL1):c.477G>C (p.Arg159=)
NM_022464.5(SIL1):c.516T>C (p.Asp172=)
NM_022464.5(SIL1):c.585C>T (p.Ser195=)
NM_022464.5(SIL1):c.60G>A (p.Leu20=)
NM_022464.5(SIL1):c.618C>T (p.Leu206=)
NM_022464.5(SIL1):c.63G>A (p.Leu21=)
NM_022464.5(SIL1):c.645+15C>T
NM_022464.5(SIL1):c.645+16G>A
NM_022464.5(SIL1):c.645+16G>T
NM_022464.5(SIL1):c.657G>A (p.Ala219=)
NM_022464.5(SIL1):c.666G>T (p.Leu222=)
NM_022464.5(SIL1):c.69C>G (p.Ala23=)
NM_022464.5(SIL1):c.714A>G (p.Thr238=) rs1581036406
NM_022464.5(SIL1):c.729G>A (p.Lys243=)
NM_022464.5(SIL1):c.72C>T (p.Ala24=)
NM_022464.5(SIL1):c.753C>T (p.Gly251=)
NM_022464.5(SIL1):c.767+18C>T
NM_022464.5(SIL1):c.767+19G>A
NM_022464.5(SIL1):c.768-15G>T
NM_022464.5(SIL1):c.804A>T (p.Gly268=)
NM_022464.5(SIL1):c.810G>A (p.Leu270=) rs1244661386
NM_022464.5(SIL1):c.819G>A (p.Leu273=) rs778802859
NM_022464.5(SIL1):c.829C>T (p.Leu277=)
NM_022464.5(SIL1):c.837G>A (p.Thr279=)
NM_022464.5(SIL1):c.846G>A (p.Pro282=)
NM_022464.5(SIL1):c.846G>C (p.Pro282=)
NM_022464.5(SIL1):c.864+11A>C
NM_022464.5(SIL1):c.864+14C>A
NM_022464.5(SIL1):c.864+20C>G
NM_022464.5(SIL1):c.865-10G>C
NM_022464.5(SIL1):c.865-14G>T
NM_022464.5(SIL1):c.865-15G>A
NM_022464.5(SIL1):c.921C>T (p.Phe307=)
NM_022464.5(SIL1):c.945C>A (p.Val315=)
NM_022464.5(SIL1):c.975G>A (p.Thr325=) rs1187845475
NM_022464.5(SIL1):c.9C>G (p.Pro3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.