ClinVar Miner

Variants in gene SIL1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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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.239A>G (p.Gln80Arg) rs35581768 0.00706
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.152C>T (p.Thr51Ile) rs144192049 0.00310
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251 0.00222
NM_022464.5(SIL1):c.1030-14G>A rs184154914 0.00148
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_022464.5(SIL1):c.1161G>A (p.Ala387=) rs140171020 0.00033
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00029
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604 0.00020
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009

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