ClinVar Miner

List of variants reported as uncertain significance for SELENON-related myopathy by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.427G>A (p.Glu143Lys) rs200958015 0.00054
NM_020451.3(SELENON):c.716G>A (p.Arg239His) rs199709671 0.00029
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys) rs982364753 0.00028
NM_020451.3(SELENON):c.980G>A (p.Arg327His) rs556232275 0.00018
NM_020451.3(SELENON):c.1247G>A (p.Arg416Gln) rs373112027 0.00016
NM_020451.3(SELENON):c.1744C>T (p.Arg582Trp) rs373530866 0.00015
NM_020451.3(SELENON):c.1295C>T (p.Pro432Leu) rs199920149 0.00011
NM_020451.3(SELENON):c.1388-3C>T rs754894330 0.00011
NM_020451.3(SELENON):c.1517C>T (p.Ser506Leu) rs766798515 0.00009
NM_020451.3(SELENON):c.457G>A (p.Glu153Lys) rs374512346 0.00008
NM_020451.3(SELENON):c.253A>G (p.Met85Val) rs761605974 0.00007
NM_020451.3(SELENON):c.1078G>A (p.Gly360Ser) rs761873230 0.00006
NM_020451.3(SELENON):c.1191G>T (p.Gln397His) rs1311923186 0.00006
NM_020451.3(SELENON):c.1636A>G (p.Ile546Val) rs749237378 0.00006
NM_020451.3(SELENON):c.501G>A (p.Pro167=) rs752707301 0.00006
NM_020451.3(SELENON):c.1152C>T (p.Ser384=) rs546136806 0.00005
NM_020451.3(SELENON):c.989G>A (p.Arg330Gln) rs758037272 0.00005
NM_020451.3(SELENON):c.10G>C (p.Ala4Pro) rs1371866855 0.00004
NM_020451.3(SELENON):c.1129G>A (p.Val377Met) rs369709974 0.00004
NM_020451.3(SELENON):c.1363G>T (p.Ala455Ser) rs374687219 0.00004
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg) rs761631813 0.00004
NM_020451.3(SELENON):c.183+14C>G rs794726949 0.00004
NM_020451.3(SELENON):c.392T>G (p.Leu131Arg) rs774592112 0.00004
NM_020451.3(SELENON):c.417G>A (p.Ala139=) rs535581420 0.00004
NM_020451.3(SELENON):c.1158C>G (p.Ile386Met) rs372243527 0.00003
NM_020451.3(SELENON):c.1249C>T (p.Arg417Cys) rs769840172 0.00003
NM_020451.3(SELENON):c.1339G>A (p.Val447Met) rs746942226 0.00003
NM_020451.3(SELENON):c.146G>A (p.Cys49Tyr) rs1023254639 0.00003
NM_020451.3(SELENON):c.1535C>T (p.Ala512Val) rs202167521 0.00003
NM_020451.3(SELENON):c.1592A>G (p.Asn531Ser) rs546041571 0.00003
NM_020451.3(SELENON):c.545G>A (p.Arg182His) rs200224030 0.00003
NM_020451.3(SELENON):c.1075A>G (p.Ile359Val) rs201316362 0.00002
NM_020451.3(SELENON):c.1312G>A (p.Asp438Asn) rs200146431 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_020451.3(SELENON):c.1649A>C (p.Lys550Thr) rs1001504099 0.00002
NM_020451.3(SELENON):c.164C>T (p.Ala55Val) rs2047850597 0.00002
NM_020451.3(SELENON):c.430G>A (p.Glu144Lys) rs761068133 0.00002
NM_020451.3(SELENON):c.500C>T (p.Pro167Leu) rs747408056 0.00002
NM_020451.3(SELENON):c.614A>C (p.His205Pro) rs745937377 0.00002
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys) rs978886878 0.00002
NM_020451.3(SELENON):c.902C>T (p.Pro301Leu) rs767340103 0.00002
NM_020451.3(SELENON):c.988C>T (p.Arg330Trp) rs1489695877 0.00002
NM_020451.3(SELENON):c.1055G>A (p.Ser352Asn) rs749342493 0.00001
NM_020451.3(SELENON):c.1243G>A (p.Ala415Thr) rs953899916 0.00001
NM_020451.3(SELENON):c.1246C>T (p.Arg416Trp) rs369207232 0.00001
NM_020451.3(SELENON):c.1281+15_1281+25dup rs1402844279 0.00001
NM_020451.3(SELENON):c.1337T>C (p.Leu446Pro) rs1257737257 0.00001
NM_020451.3(SELENON):c.1348A>G (p.Ile450Val) rs1472493197 0.00001
NM_020451.3(SELENON):c.1378T>C (p.Ser460Pro) rs1227306514 0.00001
NM_020451.3(SELENON):c.1387+6G>A rs1318995344 0.00001
NM_020451.3(SELENON):c.1421A>G (p.Glu474Gly) rs772460886 0.00001
NM_020451.3(SELENON):c.1495C>G (p.Leu499Val) rs760671117 0.00001
NM_020451.3(SELENON):c.1498C>G (p.Gln500Glu) rs763724398 0.00001
NM_020451.3(SELENON):c.1500+6C>T rs1245353353 0.00001
NM_020451.3(SELENON):c.1607A>G (p.His536Arg) rs758653293 0.00001
NM_020451.3(SELENON):c.1663G>A (p.Glu555Lys) rs1187861214 0.00001
NM_020451.3(SELENON):c.1735G>A (p.Glu579Lys) rs765368764 0.00001
NM_020451.3(SELENON):c.1748G>A (p.Arg583His) rs771563318 0.00001
NM_020451.3(SELENON):c.1765C>T (p.Gln589Ter) rs374398346 0.00001
NM_020451.3(SELENON):c.176C>A (p.Ala59Glu) rs970390100 0.00001
NM_020451.3(SELENON):c.205G>C (p.Gly69Arg) rs779935621 0.00001
NM_020451.3(SELENON):c.206G>A (p.Gly69Glu) rs746738124 0.00001
NM_020451.3(SELENON):c.28G>C (p.Gly10Arg) rs1174797000 0.00001
NM_020451.3(SELENON):c.482G>A (p.Arg161Gln) rs765749301 0.00001
NM_020451.3(SELENON):c.521A>C (p.Lys174Thr) rs770305372 0.00001
NM_020451.3(SELENON):c.581C>T (p.Ala194Val) rs727504148 0.00001
NM_020451.3(SELENON):c.608C>T (p.Thr203Ile) rs755740382 0.00001
NM_020451.3(SELENON):c.610C>T (p.Arg204Cys) rs754161311 0.00001
NM_020451.3(SELENON):c.611G>A (p.Arg204His) rs757780272 0.00001
NM_020451.3(SELENON):c.715C>T (p.Arg239Cys) rs749100423 0.00001
NM_020451.3(SELENON):c.730C>T (p.Pro244Ser) rs775003175 0.00001
NM_020451.3(SELENON):c.761G>A (p.Arg254Gln) rs779808108 0.00001
NM_020451.3(SELENON):c.781C>T (p.Pro261Ser) rs1270929673 0.00001
NM_020451.3(SELENON):c.784C>T (p.Arg262Trp) rs746994841 0.00001
NM_020451.3(SELENON):c.793G>A (p.Val265Met) rs1364075867 0.00001
NM_020451.3(SELENON):c.847G>A (p.Asp283Asn) rs760149813 0.00001
NM_020451.3(SELENON):c.871C>T (p.Arg291Trp) rs757446463 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_020451.3(SELENON):c.935A>G (p.Gln312Arg) rs775897489 0.00001
NM_020451.3(SELENON):c.976G>A (p.Val326Ile) rs764032922 0.00001
NM_020451.3(SELENON):c.979C>T (p.Arg327Cys) rs753400008 0.00001
NM_020451.3(SELENON):c.982G>A (p.Asp328Asn) rs771240009 0.00001
NC_000001.10:g.(?_26128487)_(26128628_?)dup
NM_020451.3(SELENON):c.1004A>G (p.Asn335Ser)
NM_020451.3(SELENON):c.1042G>T (p.Gly348Trp) rs374499583
NM_020451.3(SELENON):c.1049G>C (p.Ser350Thr) rs777864718
NM_020451.3(SELENON):c.1072G>A (p.Asp358Asn) rs2047959221
NM_020451.3(SELENON):c.1078G>T (p.Gly360Cys) rs761873230
NM_020451.3(SELENON):c.1092+6C>T rs148071754
NM_020451.3(SELENON):c.1094T>C (p.Met365Thr) rs973033318
NM_020451.3(SELENON):c.10G>T (p.Ala4Ser) rs1371866855
NM_020451.3(SELENON):c.1108A>T (p.Thr370Ser)
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020451.3(SELENON):c.1118C>G (p.Ser373Cys)
NM_020451.3(SELENON):c.1123C>A (p.Pro375Thr) rs1379278116
NM_020451.3(SELENON):c.1159G>A (p.Asp387Asn)
NM_020451.3(SELENON):c.1175C>T (p.Ser392Leu) rs758620314
NM_020451.3(SELENON):c.1195G>C (p.Val399Leu) rs1337260819
NM_020451.3(SELENON):c.1201GAG[1] (p.Glu402del) rs1197764943
NM_020451.3(SELENON):c.1207A>G (p.Ile403Val)
NM_020451.3(SELENON):c.125_136dup (p.Ala42_Ala45dup) rs999744359
NM_020451.3(SELENON):c.126_134dup (p.Ala43_Ala45dup) rs1161050482
NM_020451.3(SELENON):c.1270C>A (p.Pro424Thr)
NM_020451.3(SELENON):c.1282-3C>G rs1040390429
NM_020451.3(SELENON):c.1282-3C>T
NM_020451.3(SELENON):c.1297T>G (p.Phe433Val)
NM_020451.3(SELENON):c.1301C>G (p.Thr434Ser)
NM_020451.3(SELENON):c.1351C>G (p.Leu451Val) rs200431320
NM_020451.3(SELENON):c.1355T>C (p.Leu452Pro)
NM_020451.3(SELENON):c.1367T>G (p.Leu456Arg) rs2047977658
NM_020451.3(SELENON):c.1369G>T (p.Asp457Tyr) rs2047977673
NM_020451.3(SELENON):c.136G>A (p.Val46Ile) rs2124436757
NM_020451.3(SELENON):c.1377G>C (p.Gln459His)
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) rs767530943
NM_020451.3(SELENON):c.1386A>G rs1557433091
NM_020451.3(SELENON):c.1415T>C (p.Val472Ala) rs2124454571
NM_020451.3(SELENON):c.1421_1422insC (p.Glu474fs)
NM_020451.3(SELENON):c.1427C>G (p.Ser476Trp) rs368377980
NM_020451.3(SELENON):c.1465_1466del (p.Thr489fs) rs2047988020
NM_020451.3(SELENON):c.1477G>C (p.Val493Leu) rs1465319326
NM_020451.3(SELENON):c.1500+16G>A
NM_020451.3(SELENON):c.1504A>T (p.Asn502Tyr)
NM_020451.3(SELENON):c.1510_1512del (p.Glu504del) rs1247672340
NM_020451.3(SELENON):c.1524C>A (p.His508Gln) rs1198379415
NM_020451.3(SELENON):c.1524C>G (p.His508Gln)
NM_020451.3(SELENON):c.152G>A (p.Arg51His)
NM_020451.3(SELENON):c.1534G>A (p.Ala512Thr) rs1358541711
NM_020451.3(SELENON):c.1549_1551del (p.Glu517del)
NM_020451.3(SELENON):c.1572GAT[2] (p.Met526del) rs2047990479
NM_020451.3(SELENON):c.1589C>T (p.Pro530Leu) rs1209522007
NM_020451.3(SELENON):c.1602+1G>A rs751927853
NM_020451.3(SELENON):c.1602+4G>A rs2047990840
NM_020451.3(SELENON):c.1603-1G>C rs2124456702
NM_020451.3(SELENON):c.1650G>C (p.Lys550Asn)
NM_020451.3(SELENON):c.1651C>G (p.Pro551Ala) rs2124456811
NM_020451.3(SELENON):c.1662C>G (p.Ile554Met)
NM_020451.3(SELENON):c.167A>C (p.Gln56Pro)
NM_020451.3(SELENON):c.1691C>T (p.Thr564Ile)
NM_020451.3(SELENON):c.1703C>T (p.Pro568Leu) rs367859333
NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro)
NM_020451.3(SELENON):c.1744C>G (p.Arg582Gly) rs373530866
NM_020451.3(SELENON):c.1747C>T (p.Arg583Cys) rs758590388
NM_020451.3(SELENON):c.1759C>G (p.Leu587Val)
NM_020451.3(SELENON):c.183+3C>T rs2047850845
NM_020451.3(SELENON):c.184-3C>G
NM_020451.3(SELENON):c.184-3C>T rs1035976243
NM_020451.3(SELENON):c.184-6A>C rs2124437550
NM_020451.3(SELENON):c.188T>G (p.Leu63Arg) rs1557814336
NM_020451.3(SELENON):c.227T>C (p.Phe76Ser) rs2124437633
NM_020451.3(SELENON):c.257A>G (p.Tyr86Cys) rs1019702401
NM_020451.3(SELENON):c.271G>A (p.Glu91Lys)
NM_020451.3(SELENON):c.276C>A (p.Phe92Leu) rs756673739
NM_020451.3(SELENON):c.28G>A (p.Gly10Arg)
NM_020451.3(SELENON):c.296T>A (p.Leu99Gln)
NM_020451.3(SELENON):c.301+5C>T
NM_020451.3(SELENON):c.302-3C>G rs1327559756
NM_020451.3(SELENON):c.311C>T (p.Ser104Phe) rs2124438957
NM_020451.3(SELENON):c.367C>T (p.Pro123Ser)
NM_020451.3(SELENON):c.377A>G (p.Asn126Ser)
NM_020451.3(SELENON):c.410C>T (p.Thr137Ile) rs2047894839
NM_020451.3(SELENON):c.455G>T (p.Ser152Ile) rs762382665
NM_020451.3(SELENON):c.456C>G (p.Ser152Arg) rs202188924
NM_020451.3(SELENON):c.464C>T (p.Thr155Met)
NM_020451.3(SELENON):c.472A>G (p.Ile158Val) rs2047895777
NM_020451.3(SELENON):c.473T>C (p.Ile158Thr)
NM_020451.3(SELENON):c.538-3C>T rs1572232433
NM_020451.3(SELENON):c.538-8C>A
NM_020451.3(SELENON):c.538G>A (p.Val180Ile) rs751053087
NM_020451.3(SELENON):c.542C>T (p.Ser181Phe)
NM_020451.3(SELENON):c.544C>T (p.Arg182Cys)
NM_020451.3(SELENON):c.550G>A (p.Ala184Thr) rs199742668
NM_020451.3(SELENON):c.559G>A (p.Gly187Ser)
NM_020451.3(SELENON):c.577G>A (p.Ala193Thr)
NM_020451.3(SELENON):c.580G>A (p.Ala194Thr) rs560203077
NM_020451.3(SELENON):c.58C>T (p.Pro20Ser) rs1329648911
NM_020451.3(SELENON):c.608C>A (p.Thr203Asn)
NM_020451.3(SELENON):c.65C>T (p.Ala22Val) rs2047849177
NM_020451.3(SELENON):c.668T>A (p.Ile223Asn) rs1299656382
NM_020451.3(SELENON):c.686G>C (p.Ser229Thr) rs56169842
NM_020451.3(SELENON):c.697G>A (p.Gly233Ser) rs2124447513
NM_020451.3(SELENON):c.728C>T (p.Pro243Leu) rs745856385
NM_020451.3(SELENON):c.737A>G (p.Lys246Arg) rs2047932738
NM_020451.3(SELENON):c.746A>T (p.Glu249Val) rs2047932867
NM_020451.3(SELENON):c.760C>G (p.Arg254Gly) rs374195814
NM_020451.3(SELENON):c.760C>T (p.Arg254Trp) rs374195814
NM_020451.3(SELENON):c.795G>A (p.Val265=)
NM_020451.3(SELENON):c.7C>G (p.Arg3Gly) rs866566089
NM_020451.3(SELENON):c.814C>G (p.Gln272Glu) rs2047935649
NM_020451.3(SELENON):c.821C>G (p.Ala274Gly)
NM_020451.3(SELENON):c.86G>A (p.Arg29His) rs1349760554
NM_020451.3(SELENON):c.875T>A (p.Ile292Asn) rs2047941221
NM_020451.3(SELENON):c.943G>C (p.Gly315Arg) rs121908188
NM_020451.3(SELENON):c.94G>C (p.Ala32Pro)
NM_020451.3(SELENON):c.977T>G (p.Val326Gly) rs2047942764

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