ClinVar Miner

List of variants reported as benign for Marinesco-Sjögren syndrome by Invitae

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_022464.5(SIL1):c.1029+6T>C rs57028146 0.02536
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln) rs61745568 0.02524
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768 0.00706
NM_022464.5(SIL1):c.454-6C>T rs58624842 0.00601
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710 0.00413
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367 0.00410
NM_022464.5(SIL1):c.1030-14G>A rs184154914 0.00148
NM_022464.5(SIL1):c.865-7C>T rs141796576 0.00121
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604 0.00020
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_022464.5(SIL1):c.-11+21922C>T
NM_022464.5(SIL1):c.152_153inv (p.Thr51Met)
NM_022464.5(SIL1):c.353+19G>A
NM_022464.5(SIL1):c.615G>A (p.Ala205=)

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