ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP
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=)
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.1167C>T (p.Pro389=) rs199890503
NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln) rs761095369
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys) rs779649580
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.192C>T (p.Ala64=) rs148651377
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.699T>C (p.Asn233=) rs140891877
NM_022464.5(SIL1):c.724G>A (p.Val242Met) rs545999438
NM_022464.5(SIL1):c.930C>T (p.Leu310=)
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)

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