ClinVar Miner

List of variants in gene CEP57 reported as uncertain significance for Mosaic variegated aneuploidy syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 252
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HGVS dbSNP gnomAD frequency
NM_014679.5(CEP57):c.677G>A (p.Arg226His) rs143711180 0.00168
NM_014679.5(CEP57):c.410A>C (p.Glu137Ala) rs147712450 0.00051
NM_014679.5(CEP57):c.572T>A (p.Leu191His) rs150399616 0.00048
NM_014679.5(CEP57):c.422A>G (p.Asn141Ser) rs149196489 0.00024
NM_014679.5(CEP57):c.949C>T (p.His317Tyr) rs140320103 0.00024
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe) rs139110744 0.00021
NM_014679.5(CEP57):c.1403T>A (p.Leu468Gln) rs146538238 0.00019
NM_014679.5(CEP57):c.1306G>C (p.Glu436Gln) rs200955895 0.00014
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser) rs768269976 0.00012
NM_014679.5(CEP57):c.1057T>A (p.Ser353Thr) rs544014488 0.00009
NM_014679.5(CEP57):c.818G>T (p.Arg273Met) rs377308306 0.00009
NM_014679.5(CEP57):c.1123A>C (p.Ser375Arg) rs145833953 0.00008
NM_014679.5(CEP57):c.676C>T (p.Arg226Cys) rs144903440 0.00005
NM_014679.5(CEP57):c.751C>T (p.Pro251Ser) rs149293164 0.00005
NM_014679.5(CEP57):c.100T>C (p.Ser34Pro) rs760029883 0.00004
NM_014679.5(CEP57):c.1256G>A (p.Arg419Gln) rs780215823 0.00004
NM_014679.5(CEP57):c.440T>C (p.Leu147Ser) rs143361668 0.00004
NM_014679.5(CEP57):c.926T>G (p.Leu309Arg) rs567427808 0.00004
NM_014679.5(CEP57):c.1029T>A (p.Ser343Arg) rs539891523 0.00003
NM_014679.5(CEP57):c.1171G>A (p.Val391Ile) rs776303543 0.00003
NM_014679.5(CEP57):c.304A>G (p.Ile102Val) rs760541284 0.00003
NM_014679.5(CEP57):c.701T>G (p.Leu234Trp) rs750192070 0.00003
NM_014679.5(CEP57):c.1214T>C (p.Val405Ala) rs763862458 0.00002
NM_014679.5(CEP57):c.1246A>G (p.Thr416Ala) rs1370845733 0.00002
NM_014679.5(CEP57):c.1292A>C (p.Glu431Ala) rs367799359 0.00002
NM_014679.5(CEP57):c.1354A>C (p.Ser452Arg) rs1328502690 0.00002
NM_014679.5(CEP57):c.1415A>G (p.Glu472Gly) rs554513774 0.00002
NM_014679.5(CEP57):c.1488G>C (p.Leu496Phe) rs756433197 0.00002
NM_014679.5(CEP57):c.226C>G (p.Leu76Val) rs368273217 0.00002
NM_014679.5(CEP57):c.245G>A (p.Arg82His) rs140149031 0.00002
NM_014679.5(CEP57):c.444A>C (p.Glu148Asp) rs763144202 0.00002
NM_014679.5(CEP57):c.452G>A (p.Arg151Gln) rs774404375 0.00002
NM_014679.5(CEP57):c.458T>C (p.Met153Thr) rs759867272 0.00002
NM_014679.5(CEP57):c.504A>G (p.Gln168=) rs754676360 0.00002
NM_014679.5(CEP57):c.524G>A (p.Arg175Gln) rs768997831 0.00002
NM_014679.5(CEP57):c.581A>G (p.Gln194Arg) rs1467274670 0.00002
NM_014679.5(CEP57):c.628A>G (p.Met210Val) rs374700509 0.00002
NM_014679.5(CEP57):c.670A>G (p.Arg224Gly) rs755140070 0.00002
NM_014679.5(CEP57):c.752C>T (p.Pro251Leu) rs779531903 0.00002
NM_014679.5(CEP57):c.1009T>C (p.Ser337Pro) rs1453457813 0.00001
NM_014679.5(CEP57):c.1031A>G (p.Lys344Arg) rs185181743 0.00001
NM_014679.5(CEP57):c.1046C>T (p.Thr349Ile) rs768090594 0.00001
NM_014679.5(CEP57):c.1051C>A (p.Pro351Thr) rs1227528568 0.00001
NM_014679.5(CEP57):c.1063G>T (p.Gly355Cys) rs202115720 0.00001
NM_014679.5(CEP57):c.1084G>A (p.Glu362Lys) rs749400630 0.00001
NM_014679.5(CEP57):c.1122G>T (p.Met374Ile) rs764662402 0.00001
NM_014679.5(CEP57):c.1160A>C (p.Glu387Ala) rs749225516 0.00001
NM_014679.5(CEP57):c.1172T>C (p.Val391Ala) rs374317740 0.00001
NM_014679.5(CEP57):c.1174G>A (p.Glu392Lys) rs747350287 0.00001
NM_014679.5(CEP57):c.1196G>A (p.Cys399Tyr) rs1862891504 0.00001
NM_014679.5(CEP57):c.1207G>A (p.Ala403Thr) rs752448256 0.00001
NM_014679.5(CEP57):c.122C>T (p.Ser41Leu) rs993520814 0.00001
NM_014679.5(CEP57):c.1247C>G (p.Thr416Ser) rs758520624 0.00001
NM_014679.5(CEP57):c.1272+4A>C rs1465357317 0.00001
NM_014679.5(CEP57):c.1273C>T (p.Leu425=) rs758465541 0.00001
NM_014679.5(CEP57):c.145G>A (p.Asp49Asn) rs368437597 0.00001
NM_014679.5(CEP57):c.1496A>G (p.Asp499Gly) rs778341440 0.00001
NM_014679.5(CEP57):c.152G>A (p.Arg51Gln) rs549840259 0.00001
NM_014679.5(CEP57):c.154C>T (p.Arg52Cys) rs749519225 0.00001
NM_014679.5(CEP57):c.155G>A (p.Arg52His) rs771323616 0.00001
NM_014679.5(CEP57):c.170C>G (p.Pro57Arg) rs1861478889 0.00001
NM_014679.5(CEP57):c.233A>G (p.Asp78Gly) rs750728317 0.00001
NM_014679.5(CEP57):c.242G>A (p.Arg81Gln) rs1221295374 0.00001
NM_014679.5(CEP57):c.244C>T (p.Arg82Cys) rs372530656 0.00001
NM_014679.5(CEP57):c.258G>C (p.Glu86Asp) rs912374722 0.00001
NM_014679.5(CEP57):c.337C>G (p.Gln113Glu) rs1361128223 0.00001
NM_014679.5(CEP57):c.358A>G (p.Asn120Asp) rs201590491 0.00001
NM_014679.5(CEP57):c.366A>C (p.Glu122Asp) rs375567801 0.00001
NM_014679.5(CEP57):c.373C>T (p.His125Tyr) rs751973626 0.00001
NM_014679.5(CEP57):c.382+4T>C rs572758334 0.00001
NM_014679.5(CEP57):c.472G>A (p.Glu158Lys) rs761049103 0.00001
NM_014679.5(CEP57):c.478G>A (p.Glu160Lys) rs754392500 0.00001
NM_014679.5(CEP57):c.550A>G (p.Ser184Gly) rs1336581104 0.00001
NM_014679.5(CEP57):c.566T>C (p.Leu189Ser) rs928707774 0.00001
NM_014679.5(CEP57):c.824A>G (p.Tyr275Cys) rs759400733 0.00001
NM_014679.5(CEP57):c.896C>G (p.Pro299Arg) rs776778777 0.00001
NM_014679.5(CEP57):c.89G>A (p.Arg30Gln) rs577173144 0.00001
NM_014679.5(CEP57):c.917A>G (p.Asn306Ser) rs557536640 0.00001
NM_014679.5(CEP57):c.918T>A (p.Asn306Lys) rs984460249 0.00001
NM_014679.5(CEP57):c.968A>G (p.Asn323Ser) rs1266159669 0.00001
NM_014679.5(CEP57):c.98C>T (p.Ser33Leu) rs562909477 0.00001
NC_000011.9:g.(?_95550941)_(95551077_?)del
NM_014679.5(CEP57):c.1000A>G (p.Lys334Glu) rs2135373567
NM_014679.5(CEP57):c.1003C>G (p.Gln335Glu)
NM_014679.5(CEP57):c.1021G>A (p.Gly341Ser) rs1862818339
NM_014679.5(CEP57):c.1028G>C (p.Ser343Thr) rs527528444
NM_014679.5(CEP57):c.1045A>C (p.Thr349Pro) rs759919170
NM_014679.5(CEP57):c.1058C>T (p.Ser353Phe) rs1555053893
NM_014679.5(CEP57):c.1063G>A (p.Gly355Ser) rs202115720
NM_014679.5(CEP57):c.1068T>G (p.Ile356Met)
NM_014679.5(CEP57):c.1075G>A (p.Glu359Lys) rs781248377
NM_014679.5(CEP57):c.1075_1076delinsTT (p.Glu359Leu) rs1862823036
NM_014679.5(CEP57):c.1099T>A (p.Leu367Ile) rs759922227
NM_014679.5(CEP57):c.1127+3G>A rs2135374408
NM_014679.5(CEP57):c.1127+5G>A
NM_014679.5(CEP57):c.1128T>C (p.Phe376=)
NM_014679.5(CEP57):c.1147A>G (p.Lys383Glu)
NM_014679.5(CEP57):c.1163C>T (p.Ser388Leu) rs778871999
NM_014679.5(CEP57):c.1165C>G (p.Pro389Ala)
NM_014679.5(CEP57):c.1165C>T (p.Pro389Ser) rs1590960094
NM_014679.5(CEP57):c.1187A>G (p.Lys396Arg) rs2135378752
NM_014679.5(CEP57):c.1208C>T (p.Ala403Val) rs898167932
NM_014679.5(CEP57):c.1212A>C (p.Leu404Phe) rs1414836328
NM_014679.5(CEP57):c.1220G>A (p.Arg407Lys) rs1862894107
NM_014679.5(CEP57):c.1231A>G (p.Lys411Glu) rs2135378928
NM_014679.5(CEP57):c.1234G>A (p.Ala412Thr)
NM_014679.5(CEP57):c.1255C>T (p.Arg419Ter)
NM_014679.5(CEP57):c.1263C>A (p.Tyr421Ter)
NM_014679.5(CEP57):c.1267G>A (p.Ala423Thr)
NM_014679.5(CEP57):c.1273-7G>A rs1328841524
NM_014679.5(CEP57):c.1281_1295del (p.425LEKQK[1]) rs767882667
NM_014679.5(CEP57):c.1282C>G (p.Gln428Glu) rs2135383836
NM_014679.5(CEP57):c.1286dup (p.Leu430fs) rs1862984152
NM_014679.5(CEP57):c.1294A>G (p.Lys432Glu) rs550796220
NM_014679.5(CEP57):c.1296G>C (p.Lys432Asn)
NM_014679.5(CEP57):c.1297_1305del (p.Gln433_Lys435del) rs761197192
NM_014679.5(CEP57):c.1301A>C (p.Lys434Thr)
NM_014679.5(CEP57):c.131C>T (p.Pro44Leu) rs2135259624
NM_014679.5(CEP57):c.1325del (p.Lys442fs)
NM_014679.5(CEP57):c.1331T>C (p.Leu444Pro)
NM_014679.5(CEP57):c.1334A>G (p.Asp445Gly) rs748485985
NM_014679.5(CEP57):c.1339G>A (p.Glu447Lys) rs756553344
NM_014679.5(CEP57):c.1342_1362del (p.Arg448_Ser454del)
NM_014679.5(CEP57):c.1357C>G (p.Arg453Gly) rs1395763725
NM_014679.5(CEP57):c.1357_1362del (p.Arg453_Ser454del)
NM_014679.5(CEP57):c.1358G>A (p.Arg453His)
NM_014679.5(CEP57):c.1363G>A (p.Gly455Arg)
NM_014679.5(CEP57):c.1364G>A (p.Gly455Glu) rs1565336775
NM_014679.5(CEP57):c.1387A>G (p.Lys463Glu)
NM_014679.5(CEP57):c.1396A>G (p.Met466Val)
NM_014679.5(CEP57):c.1406G>A (p.Arg469Lys)
NM_014679.5(CEP57):c.1421_1430del (p.Arg474fs) rs1477051347
NM_014679.5(CEP57):c.142A>T (p.Ser48Cys)
NM_014679.5(CEP57):c.1430dup (p.Asn477fs)
NM_014679.5(CEP57):c.1433T>A (p.Leu478His) rs1862992904
NM_014679.5(CEP57):c.1450A>C (p.Met484Leu) rs930693151
NM_014679.5(CEP57):c.1453C>A (p.Gln485Lys) rs1862993704
NM_014679.5(CEP57):c.1459A>G (p.Ile487Val)
NM_014679.5(CEP57):c.1463A>G (p.Gln488Arg)
NM_014679.5(CEP57):c.1466A>G (p.Asn489Ser) rs1050934936
NM_014679.5(CEP57):c.1484G>A (p.Ser495Asn) rs753006983
NM_014679.5(CEP57):c.148C>A (p.Leu50Ile)
NM_014679.5(CEP57):c.152G>T (p.Arg51Leu)
NM_014679.5(CEP57):c.163A>G (p.Ser55Gly)
NM_014679.5(CEP57):c.185C>T (p.Pro62Leu) rs2135260052
NM_014679.5(CEP57):c.191G>A (p.Ser64Asn)
NM_014679.5(CEP57):c.195C>T (p.Asn65=)
NM_014679.5(CEP57):c.202+6C>T rs1185295732
NM_014679.5(CEP57):c.205A>G (p.Ile69Val) rs1862131344
NM_014679.5(CEP57):c.207A>G (p.Ile69Met)
NM_014679.5(CEP57):c.215C>T (p.Ala72Val)
NM_014679.5(CEP57):c.217C>T (p.Leu73Phe) rs1862131809
NM_014679.5(CEP57):c.256G>C (p.Glu86Gln)
NM_014679.5(CEP57):c.263T>C (p.Ile88Thr) rs1862134368
NM_014679.5(CEP57):c.274G>A (p.Glu92Lys)
NM_014679.5(CEP57):c.274G>C (p.Glu92Gln)
NM_014679.5(CEP57):c.292T>C (p.Ser98Pro) rs1862135682
NM_014679.5(CEP57):c.297A>T (p.Arg99Ser)
NM_014679.5(CEP57):c.305T>C (p.Ile102Thr)
NM_014679.5(CEP57):c.335T>A (p.Ile112Lys) rs1296533991
NM_014679.5(CEP57):c.341A>G (p.Glu114Gly)
NM_014679.5(CEP57):c.341A>T (p.Glu114Val)
NM_014679.5(CEP57):c.347A>G (p.Glu116Gly) rs2135318947
NM_014679.5(CEP57):c.365A>C (p.Glu122Ala) rs758749076
NM_014679.5(CEP57):c.378T>A (p.Asn126Lys) rs1233148579
NM_014679.5(CEP57):c.381A>C (p.Gln127His)
NM_014679.5(CEP57):c.382+6T>C
NM_014679.5(CEP57):c.391T>A (p.Ser131Thr)
NM_014679.5(CEP57):c.402A>C (p.Leu134Phe)
NM_014679.5(CEP57):c.413A>G (p.Asn138Ser)
NM_014679.5(CEP57):c.421A>C (p.Asn141His)
NM_014679.5(CEP57):c.422A>T (p.Asn141Ile)
NM_014679.5(CEP57):c.424C>A (p.Leu142Ile)
NM_014679.5(CEP57):c.448A>T (p.Met150Leu) rs1392775846
NM_014679.5(CEP57):c.461T>C (p.Ile154Thr) rs889087291
NM_014679.5(CEP57):c.486A>G (p.Thr162=) rs2135321587
NM_014679.5(CEP57):c.487T>C (p.Ser163Pro)
NM_014679.5(CEP57):c.48C>A (p.Asn16Lys)
NM_014679.5(CEP57):c.499A>G (p.Lys167Glu)
NM_014679.5(CEP57):c.502C>A (p.Gln168Lys) rs1241266950
NM_014679.5(CEP57):c.503A>T (p.Gln168Leu) rs1433730979
NM_014679.5(CEP57):c.504+3A>G
NM_014679.5(CEP57):c.504+4A>G
NM_014679.5(CEP57):c.504+5G>A rs1252981393
NM_014679.5(CEP57):c.504+6T>G
NM_014679.5(CEP57):c.505-9_505-6del rs1565326346
NM_014679.5(CEP57):c.505G>A (p.Val169Ile)
NM_014679.5(CEP57):c.50G>C (p.Ser17Thr) rs1565311619
NM_014679.5(CEP57):c.515A>G (p.Glu172Gly) rs2135337872
NM_014679.5(CEP57):c.520G>C (p.Glu174Gln) rs1060501986
NM_014679.5(CEP57):c.526C>G (p.Gln176Glu)
NM_014679.5(CEP57):c.542A>G (p.His181Arg) rs1862363329
NM_014679.5(CEP57):c.544G>A (p.Val182Ile) rs2135338078
NM_014679.5(CEP57):c.545T>A (p.Val182Asp)
NM_014679.5(CEP57):c.552C>A (p.Ser184Arg) rs765801435
NM_014679.5(CEP57):c.559G>A (p.Glu187Lys) rs1862364446
NM_014679.5(CEP57):c.568G>A (p.Asp190Asn)
NM_014679.5(CEP57):c.56C>G (p.Ala19Gly)
NM_014679.5(CEP57):c.575T>C (p.Leu192Pro) rs1862365071
NM_014679.5(CEP57):c.599C>A (p.Thr200Asn) rs757212650
NM_014679.5(CEP57):c.599C>T (p.Thr200Ile)
NM_014679.5(CEP57):c.601A>G (p.Thr201Ala) rs2135338342
NM_014679.5(CEP57):c.605T>A (p.Met202Lys)
NM_014679.5(CEP57):c.61C>T (p.Pro21Ser)
NM_014679.5(CEP57):c.621+13G>A
NM_014679.5(CEP57):c.621+8C>T
NM_014679.5(CEP57):c.621+9A>G rs1472625294
NM_014679.5(CEP57):c.626A>C (p.Lys209Thr) rs1862408972
NM_014679.5(CEP57):c.628A>T (p.Met210Leu) rs374700509
NM_014679.5(CEP57):c.652C>T (p.His218Tyr)
NM_014679.5(CEP57):c.680T>C (p.Met227Thr) rs1338577560
NM_014679.5(CEP57):c.684A>C (p.Gln228His) rs2135342248
NM_014679.5(CEP57):c.698A>T (p.Glu233Val)
NM_014679.5(CEP57):c.69G>T (p.Arg23Ser)
NM_014679.5(CEP57):c.704A>G (p.Gln235Arg) rs2135351781
NM_014679.5(CEP57):c.707C>A (p.Thr236Asn)
NM_014679.5(CEP57):c.718A>G (p.Thr240Ala)
NM_014679.5(CEP57):c.723T>G (p.Asn241Lys) rs76411609
NM_014679.5(CEP57):c.742A>G (p.Lys248Glu) rs2135352017
NM_014679.5(CEP57):c.746C>T (p.Ala249Val) rs1862532841
NM_014679.5(CEP57):c.755G>T (p.Cys252Phe)
NM_014679.5(CEP57):c.763A>T (p.Asn255Tyr)
NM_014679.5(CEP57):c.767C>T (p.Ala256Val) rs2135352101
NM_014679.5(CEP57):c.781A>G (p.Lys261Glu)
NM_014679.5(CEP57):c.784A>C (p.Lys262Gln)
NM_014679.5(CEP57):c.787A>C (p.Lys263Gln) rs1555052344
NM_014679.5(CEP57):c.808-11_808-7del
NM_014679.5(CEP57):c.812G>C (p.Ser271Thr)
NM_014679.5(CEP57):c.81C>A (p.Ser27Arg)
NM_014679.5(CEP57):c.821A>G (p.Asn274Ser) rs2135354357
NM_014679.5(CEP57):c.832G>A (p.Ala278Thr)
NM_014679.5(CEP57):c.833C>T (p.Ala278Val) rs1862559102
NM_014679.5(CEP57):c.836_838del (p.Gln279del) rs1379170788
NM_014679.5(CEP57):c.841C>T (p.His281Tyr) rs1862559486
NM_014679.5(CEP57):c.846T>C (p.Tyr282=) rs775590763
NM_014679.5(CEP57):c.858G>T (p.Leu286Phe) rs1308139720
NM_014679.5(CEP57):c.862G>A (p.Asp288Asn)
NM_014679.5(CEP57):c.866T>C (p.Met289Thr)
NM_014679.5(CEP57):c.86T>G (p.Val29Gly)
NM_014679.5(CEP57):c.880G>A (p.Gly294Arg) rs2135354636
NM_014679.5(CEP57):c.88C>T (p.Arg30Trp) rs749693319
NM_014679.5(CEP57):c.896C>A (p.Pro299His) rs776778777
NM_014679.5(CEP57):c.89G>C (p.Arg30Pro) rs577173144
NM_014679.5(CEP57):c.905C>A (p.Ala302Asp)
NM_014679.5(CEP57):c.908T>C (p.Val303Ala)
NM_014679.5(CEP57):c.911T>C (p.Val304Ala)
NM_014679.5(CEP57):c.923A>G (p.Gln308Arg) rs2135373107
NM_014679.5(CEP57):c.952A>G (p.Ser318Gly)
NM_014679.5(CEP57):c.974G>A (p.Arg325Gln) rs1047306549
NM_014679.5(CEP57):c.974G>C (p.Arg325Pro)
NM_014679.5(CEP57):c.983A>G (p.Asn328Ser)
NM_014679.5(CEP57):c.998C>T (p.Ala333Val)

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