ClinVar Miner

List of variants reported as uncertain significance for Marinesco-Sjögren syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 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.724G>A (p.Val242Met) rs545999438 0.00010
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln) rs761095369 0.00003
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys) rs779649580 0.00003
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_022464.5(SIL1):c.*105C>T
NM_022464.5(SIL1):c.*265C>G
NM_022464.5(SIL1):c.*30C>T
NM_022464.5(SIL1):c.*349T>C
NM_022464.5(SIL1):c.*68del
NM_022464.5(SIL1):c.*80G>C
NM_022464.5(SIL1):c.-106G>C
NM_022464.5(SIL1):c.-1T>C
NM_022464.5(SIL1):c.-29C>G
NM_022464.5(SIL1):c.-92T>A
NM_022464.5(SIL1):c.-98C>T
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) rs769587333
NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
NM_022464.5(SIL1):c.487C>T (p.Pro163Ser)
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
NM_022464.5(SIL1):c.645+15C>T
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)

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.