ClinVar Miner

List of variants studied for Marinesco-Sjogren syndrome

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 71
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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.-6C>G rs11555154
NM_022464.5(SIL1):c.-92T>A
NM_022464.5(SIL1):c.-94G>C
NM_022464.5(SIL1):c.-98C>T
NM_022464.5(SIL1):c.1017G>C (p.Leu339=)
NM_022464.5(SIL1):c.1029+1G>A
NM_022464.5(SIL1):c.1029+6T>C rs57028146
NM_022464.5(SIL1):c.1030-14G>A rs184154914
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454
NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)
NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
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.1279G>T (p.Ala427Ser)
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln) rs761095369
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter) rs119456966
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys) rs779649580
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251
NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)
NM_022464.5(SIL1):c.152C>T (p.Thr51Ile)
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052
NM_022464.5(SIL1):c.154_155GA[2] (p.Arg53fs)
NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
NM_022464.5(SIL1):c.192C>T (p.Ala64=)
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
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.331C>T (p.Arg111Ter)
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.487C>T (p.Pro163Ser)
NM_022464.5(SIL1):c.502_505AAGA[3] (p.Asp170fs)
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511
NM_022464.5(SIL1):c.598_602GAAGA[1] (p.Glu201fs)
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
NM_022464.5(SIL1):c.645+15C>T
NM_022464.5(SIL1):c.645+1G>A
NM_022464.5(SIL1):c.645+2T>C
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.810G>A (p.Leu270=)
NM_022464.5(SIL1):c.865-7C>T rs141796576
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367
NM_022464.5(SIL1):c.930C>T (p.Leu310=)
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666
NM_022464.5(SIL1):c.936dup (p.Leu313fs)
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)
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)
nsv1197592

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