ClinVar Miner

List of variants in gene SIL1 studied for Marinesco-Sjögren syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 288
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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.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.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.865-7C>T rs141796576 0.00121
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.1167C>T (p.Pro389=) rs199890503 0.00028
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.192C>T (p.Ala64=) rs148651377 0.00019
NM_022464.5(SIL1):c.310C>G (p.Leu104Val) rs150892227 0.00018
NM_022464.5(SIL1):c.424G>C (p.Ala142Pro) rs142987777 0.00018
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00017
NM_022464.5(SIL1):c.103C>G (p.Leu35Val) rs759591537 0.00011
NM_022464.5(SIL1):c.1326C>T (p.Asp442=) rs375567857 0.00010
NM_022464.5(SIL1):c.724G>A (p.Val242Met) rs545999438 0.00010
NM_022464.5(SIL1):c.849C>T (p.Leu283=) rs372816951 0.00010
NM_022464.5(SIL1):c.142A>C (p.Thr48Pro) rs185697854 0.00009
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.1022C>T (p.Thr341Met) rs372399027 0.00008
NM_022464.5(SIL1):c.1029+7G>A rs371041584 0.00008
NM_022464.5(SIL1):c.1030-9G>A rs370290043 0.00006
NM_022464.5(SIL1):c.1125A>G (p.Glu375=) rs149424114 0.00005
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro) rs563414935 0.00004
NM_022464.5(SIL1):c.623A>C (p.Asp208Ala) rs145709743 0.00004
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu) rs1478296366 0.00004
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln) rs761095369 0.00003
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys) rs779649580 0.00003
NM_022464.5(SIL1):c.355C>G (p.Leu119Val) rs758512287 0.00003
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_022464.5(SIL1):c.987C>T (p.Ala329=) rs758596676 0.00003
NM_022464.5(SIL1):c.1005G>A (p.Leu335=) rs751082361 0.00001
NM_022464.5(SIL1):c.1115G>A (p.Gly372Asp) rs727504153 0.00001
NM_022464.5(SIL1):c.1347G>A (p.Leu449=) rs1458642130 0.00001
NM_022464.5(SIL1):c.272T>C (p.Val91Ala) rs1461916800 0.00001
NM_022464.5(SIL1):c.599A>G (p.Glu200Gly) rs879437180 0.00001
NM_022464.5(SIL1):c.648G>C (p.Met216Ile) rs538181924 0.00001
NM_022464.5(SIL1):c.69C>T (p.Ala23=) rs756893810 0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401 0.00001
NM_022464.5(SIL1):c.795C>T (p.Ile265=) rs746589509 0.00001
NM_022464.5(SIL1):c.807C>T (p.Ala269=) rs200359743 0.00001
NC_000005.9:g.(?_138356840)_(138386755_?)del
NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACT
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.-10-18951A>G
NM_022464.5(SIL1):c.-10-2A>G
NM_022464.5(SIL1):c.-11+21922C>T
NM_022464.5(SIL1):c.-1T>C
NM_022464.5(SIL1):c.1007T>C (p.Leu336Pro)
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
NM_022464.5(SIL1):c.1010A>G (p.Tyr337Cys)
NM_022464.5(SIL1):c.1011C>T (p.Tyr337=)
NM_022464.5(SIL1):c.1012G>A (p.Asp338Asn)
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) rs769587333
NM_022464.5(SIL1):c.1023G>A (p.Thr341=)
NM_022464.5(SIL1):c.1025_1027delAGA (p.Lys343del)
NM_022464.5(SIL1):c.1029+12_1029+17del
NM_022464.5(SIL1):c.1029+14C>T
NM_022464.5(SIL1):c.1029+15C>T
NM_022464.5(SIL1):c.1029+1G>A
NM_022464.5(SIL1):c.1029G>A (p.Lys343=)
NM_022464.5(SIL1):c.1030-10C>T
NM_022464.5(SIL1):c.1030-18G>A
NM_022464.5(SIL1):c.1030-19C>T
NM_022464.5(SIL1):c.1030-6T>G
NM_022464.5(SIL1):c.1030-9G>T
NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)
NM_022464.5(SIL1):c.1035C>T (p.Phe345=)
NM_022464.5(SIL1):c.1035del (p.Phe345fs)
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr) rs377150029
NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)
NM_022464.5(SIL1):c.1038C>T (p.Ala346=)
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
NM_022464.5(SIL1):c.105+20A>G
NM_022464.5(SIL1):c.105+8T>C
NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)
NM_022464.5(SIL1):c.1066A>G (p.Met356Val)
NM_022464.5(SIL1):c.1071C>T (p.Ser357=)
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
NM_022464.5(SIL1):c.1086G>A (p.Gln362=)
NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
NM_022464.5(SIL1):c.1095C>T (p.Arg365=)
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)
NM_022464.5(SIL1):c.1107C>T (p.Leu369=)
NM_022464.5(SIL1):c.1117del (p.Leu373fs)
NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg) rs1021273983
NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)
NM_022464.5(SIL1):c.1127_1128del (p.Gln376fs)
NM_022464.5(SIL1):c.1138G>A (p.Glu380Lys)
NM_022464.5(SIL1):c.1145C>T (p.Thr382Met)
NM_022464.5(SIL1):c.1146G>A (p.Thr382=)
NM_022464.5(SIL1):c.1156C>T (p.Leu386=)
NM_022464.5(SIL1):c.115G>T (p.Ala39Ser)
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)
NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)
NM_022464.5(SIL1):c.1218C>A (p.Thr406=)
NM_022464.5(SIL1):c.1218C>T (p.Thr406=)
NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)
NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys)
NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
NM_022464.5(SIL1):c.1238G>T (p.Arg413Leu)
NM_022464.5(SIL1):c.1247C>A (p.Pro416His)
NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser) rs398124389
NM_022464.5(SIL1):c.125A>C (p.Asn42Thr)
NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)
NM_022464.5(SIL1):c.1263A>G (p.Thr421=) rs1157233880
NM_022464.5(SIL1):c.1275G>A (p.Leu425=)
NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)
NM_022464.5(SIL1):c.1286A>T (p.Tyr429Phe)
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter) rs119456966
NM_022464.5(SIL1):c.1316A>G (p.Asp439Gly)
NM_022464.5(SIL1):c.1317T>C (p.Asp439=)
NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter)
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)
NM_022464.5(SIL1):c.1331G>T (p.Gly444Val)
NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)
NM_022464.5(SIL1):c.1356T>C (p.Ser452=)
NM_022464.5(SIL1):c.135G>A (p.Lys45=)
NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)
NM_022464.5(SIL1):c.1368G>A (p.Leu456=)
NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)
NM_022464.5(SIL1):c.1380G>C (p.Leu460=)
NM_022464.5(SIL1):c.152_153inv (p.Thr51Met)
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)
NM_022464.5(SIL1):c.166A>G (p.Thr56Ala)
NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)
NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)
NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)
NM_022464.5(SIL1):c.195_217del (p.Glu65fs)
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
NM_022464.5(SIL1):c.199C>T (p.Leu67=)
NM_022464.5(SIL1):c.1A>G (p.Met1Val) rs573588795
NM_022464.5(SIL1):c.205G>A (p.Val69Met)
NM_022464.5(SIL1):c.211C>T (p.His71Tyr)
NM_022464.5(SIL1):c.212dup (p.His71fs)
NM_022464.5(SIL1):c.213C>T (p.His71=)
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
NM_022464.5(SIL1):c.216G>A (p.Pro72=)
NM_022464.5(SIL1):c.218C>T (p.Thr73Met)
NM_022464.5(SIL1):c.219G>A (p.Thr73=)
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
NM_022464.5(SIL1):c.238C>A (p.Gln80Lys)
NM_022464.5(SIL1):c.244+11del
NM_022464.5(SIL1):c.244+17T>C
NM_022464.5(SIL1):c.244+8G>A
NM_022464.5(SIL1):c.245-15C>A
NM_022464.5(SIL1):c.255C>T (p.Val85=)
NM_022464.5(SIL1):c.261A>G (p.Ala87=)
NM_022464.5(SIL1):c.267C>A (p.Ser89=)
NM_022464.5(SIL1):c.270C>T (p.His90=)
NM_022464.5(SIL1):c.271G>A (p.Val91Ile)
NM_022464.5(SIL1):c.275G>A (p.Arg92Gln)
NM_022464.5(SIL1):c.276G>A (p.Arg92=)
NM_022464.5(SIL1):c.31A>G (p.Met11Val)
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
NM_022464.5(SIL1):c.348C>G (p.Gly116=)
NM_022464.5(SIL1):c.353+12A>G
NM_022464.5(SIL1):c.353+19G>A
NM_022464.5(SIL1):c.353+1G>T
NM_022464.5(SIL1):c.354-3C>A
NM_022464.5(SIL1):c.355C>T (p.Leu119=)
NM_022464.5(SIL1):c.366C>T (p.Asn122=)
NM_022464.5(SIL1):c.369C>G (p.Thr123=)
NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
NM_022464.5(SIL1):c.432G>T (p.Met144Ile)
NM_022464.5(SIL1):c.435G>C (p.Glu145Asp)
NM_022464.5(SIL1):c.453+14T>C
NM_022464.5(SIL1):c.454-10C>G
NM_022464.5(SIL1):c.454-8C>G
NM_022464.5(SIL1):c.454-8C>T
NM_022464.5(SIL1):c.458G>C (p.Arg153Thr)
NM_022464.5(SIL1):c.46A>C (p.Met16Leu)
NM_022464.5(SIL1):c.471A>T (p.Val157=)
NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)
NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)
NM_022464.5(SIL1):c.477G>C (p.Arg159=)
NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)
NM_022464.5(SIL1):c.487C>A (p.Pro163Thr)
NM_022464.5(SIL1):c.487C>T (p.Pro163Ser)
NM_022464.5(SIL1):c.506_509dup (p.Asp170fs)
NM_022464.5(SIL1):c.516T>C (p.Asp172=)
NM_022464.5(SIL1):c.526G>T (p.Val176Phe)
NM_022464.5(SIL1):c.550A>G (p.Ile184Val)
NM_022464.5(SIL1):c.554T>C (p.Met185Thr)
NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)
NM_022464.5(SIL1):c.570C>G (p.Asn190Lys)
NM_022464.5(SIL1):c.585C>T (p.Ser195=)
NM_022464.5(SIL1):c.599A>C (p.Glu200Ala)
NM_022464.5(SIL1):c.59T>C (p.Leu20Pro)
NM_022464.5(SIL1):c.603_607del (p.Glu201fs)
NM_022464.5(SIL1):c.60G>A (p.Leu20=)
NM_022464.5(SIL1):c.614C>T (p.Ala205Val)
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
NM_022464.5(SIL1):c.618C>T (p.Leu206=)
NM_022464.5(SIL1):c.624T>A (p.Asp208Glu)
NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)
NM_022464.5(SIL1):c.63G>A (p.Leu21=)
NM_022464.5(SIL1):c.643_645+21del
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
NM_022464.5(SIL1):c.645+15C>T
NM_022464.5(SIL1):c.645+16G>A
NM_022464.5(SIL1):c.645+16G>T
NM_022464.5(SIL1):c.645+1G>A
NM_022464.5(SIL1):c.645+2T>C
NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)
NM_022464.5(SIL1):c.657G>A (p.Ala219=)
NM_022464.5(SIL1):c.666G>T (p.Leu222=)
NM_022464.5(SIL1):c.670T>A (p.Ser224Thr)
NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)
NM_022464.5(SIL1):c.685dup (p.Gln229fs)
NM_022464.5(SIL1):c.694A>G (p.Ile232Val)
NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)
NM_022464.5(SIL1):c.698A>G (p.Asn233Ser)
NM_022464.5(SIL1):c.69C>G (p.Ala23=)
NM_022464.5(SIL1):c.714A>G (p.Thr238=) rs1581036406
NM_022464.5(SIL1):c.729G>A (p.Lys243=)
NM_022464.5(SIL1):c.72C>T (p.Ala24=)
NM_022464.5(SIL1):c.753C>T (p.Gly251=)
NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)
NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)
NM_022464.5(SIL1):c.767+18C>T
NM_022464.5(SIL1):c.767+19G>A
NM_022464.5(SIL1):c.767+1G>A
NM_022464.5(SIL1):c.768-15G>T
NM_022464.5(SIL1):c.773C>T (p.Pro258Leu)
NM_022464.5(SIL1):c.804A>T (p.Gly268=)
NM_022464.5(SIL1):c.810G>A (p.Leu270=) rs1244661386
NM_022464.5(SIL1):c.815A>G (p.Lys272Arg)
NM_022464.5(SIL1):c.819G>A (p.Leu273=) rs778802859
NM_022464.5(SIL1):c.829C>T (p.Leu277=)
NM_022464.5(SIL1):c.82T>C (p.Phe28Leu)
NM_022464.5(SIL1):c.836C>T (p.Thr279Met) rs535287958
NM_022464.5(SIL1):c.837G>A (p.Thr279=)
NM_022464.5(SIL1):c.845C>T (p.Pro282Leu)
NM_022464.5(SIL1):c.846G>A (p.Pro282=)
NM_022464.5(SIL1):c.846G>C (p.Pro282=)
NM_022464.5(SIL1):c.864+11A>C
NM_022464.5(SIL1):c.864+14C>A
NM_022464.5(SIL1):c.864+20C>G
NM_022464.5(SIL1):c.865-10G>C
NM_022464.5(SIL1):c.865-14G>T
NM_022464.5(SIL1):c.865-15G>A
NM_022464.5(SIL1):c.88del (p.Leu30fs)
NM_022464.5(SIL1):c.907G>A (p.Ala303Thr)
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
NM_022464.5(SIL1):c.914G>A (p.Arg305Gln)
NM_022464.5(SIL1):c.91A>G (p.Ser31Gly)
NM_022464.5(SIL1):c.921C>T (p.Phe307=)
NM_022464.5(SIL1):c.931G>A (p.Gly311Arg)
NM_022464.5(SIL1):c.936del (p.Leu313fs)
NM_022464.5(SIL1):c.936dup (p.Leu313fs)
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)
NM_022464.5(SIL1):c.945C>A (p.Val315=)
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
NM_022464.5(SIL1):c.975G>A (p.Thr325=) rs1187845475
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
NM_022464.5(SIL1):c.986C>G (p.Ala329Gly)
NM_022464.5(SIL1):c.988G>A (p.Val330Met)
NM_022464.5(SIL1):c.9C>G (p.Pro3=)
NM_022464.5:c.454-6721_768-23561del

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