ClinVar Miner

List of variants in gene SIL1 studied for not specified

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Total variants: 31
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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.-6C>G rs11555154 0.06144
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.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.1351G>A (p.Gly451Ser) rs34214251 0.00222
NM_022464.5(SIL1):c.1030-14G>A rs184154914 0.00148
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
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.1206C>T (p.Gly402=) rs146164392 0.00028
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604 0.00020
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00017
NM_022464.5(SIL1):c.724G>A (p.Val242Met) rs545999438 0.00010
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_022464.5(SIL1):c.993C>T (p.Arg331=) rs201009798 0.00009
NM_022464.5(SIL1):c.1125A>G (p.Glu375=) rs149424114 0.00005
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_022464.5(SIL1):c.991C>T (p.Arg331Cys) rs765721225 0.00003
NM_022464.5(SIL1):c.567C>T (p.Ile189=) rs760365354 0.00001
NM_022464.5(SIL1):c.795C>T (p.Ile265=) rs746589509 0.00001
GRCh37/hg19 5q31.2(chr5:138351402-138416903)
NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg) rs1021273983
NM_022464.5(SIL1):c.1164G>A (p.Leu388=) rs755849572
NM_022464.5(SIL1):c.152_153inv (p.Thr51Met)
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)

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