ClinVar Miner

List of variants studied for Marinesco-Sjogren syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_022464.5(SIL1):c.1029+6T>C rs57028146
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454
NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)
NM_022464.5(SIL1):c.1161G>A (p.Ala387=) rs140171020
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503
NM_022464.5(SIL1):c.1206C>T (p.Gly402=) rs146164392
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln) rs61745568
NM_022464.5(SIL1):c.454-6C>T rs58624842
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
NM_022464.5(SIL1):c.810G>A (p.Leu270=) rs1244661386
NM_022464.5(SIL1):c.865-7C>T rs141796576
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)

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.