ClinVar Miner

List of variants in gene SIL1 reported as likely benign for Marinesco-Sjogren syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_022464.5(SIL1):c.-94G>C
NM_022464.5(SIL1):c.1030-14G>A rs184154914
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454
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.1351G>A (p.Gly451Ser) rs34214251
NM_022464.5(SIL1):c.152C>T (p.Thr51Ile) rs144192049
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.810G>A (p.Leu270=) rs1244661386
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457

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