List of variants in gene SELENON reported as likely benign for SELENON-related myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 178

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HGVS	dbSNP	gnomAD frequency
NM_020451.3(SELENON):c.1645G>A (p.Val549Met)	rs147131452	0.00268
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)	rs183272965	0.00124
NM_020451.3(SELENON):c.1623C>T (p.Asn541=)	rs199911454	0.00070
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	rs201692549	0.00054
NM_020451.3(SELENON):c.1500+7G>A	rs200724231	0.00044
NM_020451.3(SELENON):c.907G>A (p.Asp303Asn)	rs200712993	0.00044
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)	rs200128474	0.00036
NM_020451.3(SELENON):c.1428G>A (p.Ser476=)	rs41284305	0.00029
NM_020451.3(SELENON):c.1603-14G>A	rs370300935	0.00022
NM_020451.3(SELENON):c.1041C>T (p.Tyr347=)	rs113867228	0.00021
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)	rs398124359	0.00020
NM_020451.3(SELENON):c.1638C>T (p.Ile546=)	rs201066183	0.00017
NM_020451.3(SELENON):c.7C>A (p.Arg3=)	rs866566089	0.00016
NM_020451.3(SELENON):c.538-7G>A	rs374669004	0.00015
NM_020451.3(SELENON):c.81C>T (p.Arg27=)	rs886038660	0.00014
NM_020451.3(SELENON):c.420C>G (p.Ala140=)	rs778551841	0.00011
NM_020451.3(SELENON):c.1563C>T (p.Phe521=)	rs373154763	0.00009
NM_020451.3(SELENON):c.301+18C>T	rs373189692	0.00009
NM_020451.3(SELENON):c.402G>A (p.Leu134=)	rs759256016	0.00008
NM_020451.3(SELENON):c.465G>A (p.Thr155=)	rs753774853	0.00006
NM_020451.3(SELENON):c.717C>T (p.Arg239=)	rs377562721	0.00006
NM_020451.3(SELENON):c.732G>A (p.Pro244=)	rs200765195	0.00006
NM_020451.3(SELENON):c.909C>T (p.Asp303=)	rs748756250	0.00006
NM_020451.3(SELENON):c.1344C>T (p.His448=)	rs752098351	0.00005
NM_020451.3(SELENON):c.1500+8G>A	rs930103539	0.00005
NM_020451.3(SELENON):c.183+10C>G	rs1405420770	0.00005
NM_020451.3(SELENON):c.393C>T (p.Leu131=)	rs947474610	0.00005
NM_020451.3(SELENON):c.1387+12G>A	rs764241591	0.00004
NM_020451.3(SELENON):c.1419G>A (p.Leu473=)	rs746181391	0.00004
NM_020451.3(SELENON):c.186A>G (p.Glu62=)	rs777994853	0.00004
NM_020451.3(SELENON):c.942C>T (p.Thr314=)	rs747506928	0.00004
NM_020451.3(SELENON):c.1077C>T (p.Ile359=)	rs370740923	0.00003
NM_020451.3(SELENON):c.1128C>T (p.Ser376=)	rs377230143	0.00003
NM_020451.3(SELENON):c.1704G>A (p.Pro568=)	rs754350384	0.00003
NM_020451.3(SELENON):c.183+11G>A	rs1015099314	0.00003
NM_020451.3(SELENON):c.618C>T (p.Phe206=)	rs772257589	0.00003
NM_020451.3(SELENON):c.747+20G>A	rs373649740	0.00003
NM_020451.3(SELENON):c.996C>T (p.Phe332=)	rs372461186	0.00003
NM_020451.3(SELENON):c.9G>C (p.Arg3=)	rs1057521978	0.00003
NM_020451.3(SELENON):c.1644C>T (p.Ser548=)	rs368507434	0.00002
NM_020451.3(SELENON):c.225C>T (p.Leu75=)	rs889870201	0.00002
NM_020451.3(SELENON):c.1023G>A (p.Val341=)	rs755437940	0.00001
NM_020451.3(SELENON):c.1092+7G>A	rs367908571	0.00001
NM_020451.3(SELENON):c.1281+15G>T	rs886038657	0.00001
NM_020451.3(SELENON):c.1311C>T (p.Phe437=)	rs752908428	0.00001
NM_020451.3(SELENON):c.1388-7dup	rs760765615	0.00001
NM_020451.3(SELENON):c.1388-8C>G	rs1366973759	0.00001
NM_020451.3(SELENON):c.1518G>A (p.Ser506=)	rs751872810	0.00001
NM_020451.3(SELENON):c.1566C>T (p.Pro522=)	rs768563944	0.00001
NM_020451.3(SELENON):c.1620C>T (p.Ala540=)	rs1421548273	0.00001
NM_020451.3(SELENON):c.216C>T (p.Gly72=)	rs747665368	0.00001
NM_020451.3(SELENON):c.404-18G>A	rs376478982	0.00001
NM_020451.3(SELENON):c.414C>T (p.Pro138=)	rs374681184	0.00001
NM_020451.3(SELENON):c.468C>T (p.Leu156=)	rs368675892	0.00001
NM_020451.3(SELENON):c.537+16C>T	rs774621017	0.00001
NM_020451.3(SELENON):c.538-10C>T	rs1471184508	0.00001
NM_020451.3(SELENON):c.538-4C>G	rs201712329	0.00001
NM_020451.3(SELENON):c.558C>T (p.Ser186=)	rs374013102	0.00001
NM_020451.3(SELENON):c.579C>T (p.Ala193=)	rs760971636	0.00001
NM_020451.3(SELENON):c.582C>T (p.Ala194=)	rs1420010957	0.00001
NM_020451.3(SELENON):c.657G>A (p.Glu219=)	rs760351206	0.00001
NM_020451.3(SELENON):c.675C>T (p.Pro225=)	rs757547235	0.00001
NM_020451.3(SELENON):c.684G>C (p.Leu228=)	rs750994601	0.00001
NM_020451.3(SELENON):c.693C>T (p.Phe231=)	rs903926749	0.00001
NM_020451.3(SELENON):c.748-6C>T	rs1300732555	0.00001
NM_020451.3(SELENON):c.748-9C>T	rs752180175	0.00001
NM_020451.3(SELENON):c.858C>T (p.Tyr286=)	rs760604264	0.00001
NM_020451.3(SELENON):c.872+7G>A	rs751318243	0.00001
NM_020451.3(SELENON):c.903G>A (p.Pro301=)	rs752634748	0.00001
NM_020451.3(SELENON):c.1010+18G>A
NM_020451.3(SELENON):c.1010+7G>A
NM_020451.3(SELENON):c.1010+8C>T	rs201711169
NM_020451.3(SELENON):c.1011-10G>A
NM_020451.3(SELENON):c.102C>T (p.Leu34=)
NM_020451.3(SELENON):c.1059C>T (p.Ser353=)
NM_020451.3(SELENON):c.108C>T (p.Ala36=)
NM_020451.3(SELENON):c.1092+8C>T
NM_020451.3(SELENON):c.1093-11C>T
NM_020451.3(SELENON):c.1093-18C>T
NM_020451.3(SELENON):c.109C>T (p.Leu37=)
NM_020451.3(SELENON):c.1122G>A (p.Val374=)
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del)	rs770747626
NM_020451.3(SELENON):c.1170G>T (p.Leu390=)	rs2124451191
NM_020451.3(SELENON):c.1179G>A (p.Gly393=)
NM_020451.3(SELENON):c.1197G>A (p.Val399=)
NM_020451.3(SELENON):c.1227G>A (p.Leu409=)
NM_020451.3(SELENON):c.123C>A (p.Ala41=)	rs1251781281
NM_020451.3(SELENON):c.123C>T (p.Ala41=)	rs1251781281
NM_020451.3(SELENON):c.1269C>T (p.Tyr423=)
NM_020451.3(SELENON):c.126T>A (p.Ala42=)
NM_020451.3(SELENON):c.1281+11G>A
NM_020451.3(SELENON):c.1281+7C>T
NM_020451.3(SELENON):c.1282-12G>A	rs2124452801
NM_020451.3(SELENON):c.1296G>A (p.Pro432=)
NM_020451.3(SELENON):c.1299C>T (p.Phe433=)
NM_020451.3(SELENON):c.1338G>A (p.Leu446=)
NM_020451.3(SELENON):c.1341G>A (p.Val447=)
NM_020451.3(SELENON):c.1351C>T (p.Leu451=)
NM_020451.3(SELENON):c.1362G>A (p.Gly454=)	rs1465837515
NM_020451.3(SELENON):c.1387+14C>G
NM_020451.3(SELENON):c.1388-12C>T
NM_020451.3(SELENON):c.1388-6G>C
NM_020451.3(SELENON):c.1500+20del
NM_020451.3(SELENON):c.156C>T (p.His52=)
NM_020451.3(SELENON):c.1602+10C>G
NM_020451.3(SELENON):c.1602+16C>T
NM_020451.3(SELENON):c.1602+17A>G
NM_020451.3(SELENON):c.1602+18G>A
NM_020451.3(SELENON):c.1603-15C>G
NM_020451.3(SELENON):c.1603-15C>T
NM_020451.3(SELENON):c.1603-9T>C	rs376978932
NM_020451.3(SELENON):c.1605C>G (p.Val535=)
NM_020451.3(SELENON):c.1653C>T (p.Pro551=)
NM_020451.3(SELENON):c.1656G>A (p.Glu552=)
NM_020451.3(SELENON):c.1662C>T (p.Ile554=)
NM_020451.3(SELENON):c.1674C>T (p.Leu558=)
NM_020451.3(SELENON):c.16C>T (p.Pro6Ser)
NM_020451.3(SELENON):c.1710G>A (p.Thr570=)	rs371398538
NM_020451.3(SELENON):c.1710G>C (p.Thr570=)	rs371398538
NM_020451.3(SELENON):c.1761C>T (p.Leu587=)
NM_020451.3(SELENON):c.1764C>T (p.Leu588=)
NM_020451.3(SELENON):c.184-10T>C	rs2124437547
NM_020451.3(SELENON):c.184-12C>T
NM_020451.3(SELENON):c.184-16C>G
NM_020451.3(SELENON):c.184-18G>A
NM_020451.3(SELENON):c.18G>A (p.Pro6=)	rs1572226803
NM_020451.3(SELENON):c.216C>G (p.Gly72=)	rs747665368
NM_020451.3(SELENON):c.246C>T (p.Asp82=)
NM_020451.3(SELENON):c.270G>A (p.Glu90=)	rs1442343296
NM_020451.3(SELENON):c.276C>T (p.Phe92=)
NM_020451.3(SELENON):c.302-16T>G
NM_020451.3(SELENON):c.302-18T>C	rs2124438895
NM_020451.3(SELENON):c.30G>C (p.Gly10=)
NM_020451.3(SELENON):c.339C>T (p.Cys113=)
NM_020451.3(SELENON):c.33G>A (p.Pro11=)	rs2047848510
NM_020451.3(SELENON):c.36C>T (p.Pro12=)
NM_020451.3(SELENON):c.378T>C (p.Asn126=)	rs2047865928
NM_020451.3(SELENON):c.390C>T (p.Cys130=)
NM_020451.3(SELENON):c.39C>T (p.Ser13=)
NM_020451.3(SELENON):c.403+14C>T
NM_020451.3(SELENON):c.403+15dup
NM_020451.3(SELENON):c.404-19C>T
NM_020451.3(SELENON):c.404-7C>A
NM_020451.3(SELENON):c.51C>G (p.Ala17=)
NM_020451.3(SELENON):c.538-8C>T	rs538835367
NM_020451.3(SELENON):c.549C>T (p.Leu183=)
NM_020451.3(SELENON):c.54G>T (p.Ala18=)
NM_020451.3(SELENON):c.553C>T (p.Leu185=)
NM_020451.3(SELENON):c.59C>T (p.Pro20Leu)
NM_020451.3(SELENON):c.627C>T (p.Phe209=)
NM_020451.3(SELENON):c.633C>A (p.Pro211=)	rs1386434021
NM_020451.3(SELENON):c.633C>T (p.Pro211=)
NM_020451.3(SELENON):c.636G>A (p.Pro212=)
NM_020451.3(SELENON):c.651G>A (p.Leu217=)
NM_020451.3(SELENON):c.660C>A (p.Pro220=)	rs2124447361
NM_020451.3(SELENON):c.672C>A (p.Ile224=)
NM_020451.3(SELENON):c.703C>T (p.Leu235=)
NM_020451.3(SELENON):c.726A>G (p.Pro242=)
NM_020451.3(SELENON):c.744G>A (p.Lys248=)
NM_020451.3(SELENON):c.747+16G>C
NM_020451.3(SELENON):c.747+19C>T
NM_020451.3(SELENON):c.748-11G>A
NM_020451.3(SELENON):c.748-12C>T
NM_020451.3(SELENON):c.748-12del	rs2124447905
NM_020451.3(SELENON):c.748-8G>A
NM_020451.3(SELENON):c.828C>T (p.Ala276=)	rs1337830180
NM_020451.3(SELENON):c.82G>T (p.Ala28Ser)	rs1286430947
NM_020451.3(SELENON):c.872+13C>T
NM_020451.3(SELENON):c.872+15C>A
NM_020451.3(SELENON):c.872+17G>T	rs754933685
NM_020451.3(SELENON):c.882C>G (p.Ala294=)	rs201631363
NM_020451.3(SELENON):c.897T>C (p.Ser299=)	rs1243423026
NM_020451.3(SELENON):c.906C>T (p.Pro302=)
NM_020451.3(SELENON):c.957C>G (p.Leu319=)	rs377537585
NM_020451.3(SELENON):c.957C>T (p.Leu319=)	rs377537585
NM_020451.3(SELENON):c.975C>T (p.His325=)
NM_020451.3(SELENON):c.99G>C (p.Leu33=)	rs1319643846
NM_020451.3(SELENON):c.99G>T (p.Leu33=)

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