ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 303
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014679.5(CEP57):c.677G>A (p.Arg226His) rs143711180 0.00168
NM_014679.5(CEP57):c.572T>A (p.Leu191His) rs150399616 0.00046
NM_014679.5(CEP57):c.410A>C (p.Glu137Ala) rs147712450 0.00044
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.1403T>A (p.Leu468Gln) rs146538238 0.00019
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe) rs139110744 0.00019
NM_014679.5(CEP57):c.25G>A (p.Ala9Thr) rs150749300 0.00016
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 0.00010
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.926T>G (p.Leu309Arg) rs567427808 0.00006
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.1029T>A (p.Ser343Arg) rs539891523 0.00003
NM_014679.5(CEP57):c.1171G>A (p.Val391Ile) rs776303543 0.00003
NM_014679.5(CEP57):c.195C>T (p.Asn65=) rs147573411 0.00003
NM_014679.5(CEP57):c.304A>G (p.Ile102Val) rs760541284 0.00003
NM_014679.5(CEP57):c.37C>T (p.His13Tyr) rs770949915 0.00003
NM_014679.5(CEP57):c.440T>C (p.Leu147Ser) rs143361668 0.00003
NM_014679.5(CEP57):c.621+8C>T rs1413547565 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.1358G>A (p.Arg453His) rs371631321 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.23C>T (p.Ala8Val) rs751018904 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.44C>T (p.Ser15Leu) rs1377080839 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.89G>A (p.Arg30Gln) rs577173144 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.1165C>T (p.Pro389Ser) rs1590960094 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.1294A>G (p.Lys432Glu) rs550796220 0.00001
NM_014679.5(CEP57):c.1354A>C (p.Ser452Arg) rs1328502690 0.00001
NM_014679.5(CEP57):c.1387A>G (p.Lys463Glu) rs776393035 0.00001
NM_014679.5(CEP57):c.1415A>G (p.Glu472Gly) rs554513774 0.00001
NM_014679.5(CEP57):c.145G>A (p.Asp49Asn) rs368437597 0.00001
NM_014679.5(CEP57):c.1463A>G (p.Gln488Arg) rs1464837266 0.00001
NM_014679.5(CEP57):c.1484G>A (p.Ser495Asn) rs753006983 0.00001
NM_014679.5(CEP57):c.148C>A (p.Leu50Ile) rs781186734 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.191G>A (p.Ser64Asn) rs913652706 0.00001
NM_014679.5(CEP57):c.20C>T (p.Ser7Phe) rs762244415 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.256G>C (p.Glu86Gln) rs1164730107 0.00001
NM_014679.5(CEP57):c.258G>C (p.Glu86Asp) rs912374722 0.00001
NM_014679.5(CEP57):c.26C>T (p.Ala9Val) rs1171650821 0.00001
NM_014679.5(CEP57):c.305T>C (p.Ile102Thr) rs763970433 0.00001
NM_014679.5(CEP57):c.31G>C (p.Gly11Arg) rs755854165 0.00001
NM_014679.5(CEP57):c.337C>G (p.Gln113Glu) rs1361128223 0.00001
NM_014679.5(CEP57):c.341A>G (p.Glu114Gly) rs765402486 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.391T>A (p.Ser131Thr) rs1862163986 0.00001
NM_014679.5(CEP57):c.3G>A (p.Met1Ile) rs1017500720 0.00001
NM_014679.5(CEP57):c.413A>G (p.Asn138Ser) rs1462764700 0.00001
NM_014679.5(CEP57):c.421A>C (p.Asn141His) rs1767858227 0.00001
NM_014679.5(CEP57):c.45+5G>A rs1347618392 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.504+4A>G rs1018987176 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.599C>T (p.Thr200Ile) rs757212650 0.00001
NM_014679.5(CEP57):c.605T>A (p.Met202Lys) rs758501924 0.00001
NM_014679.5(CEP57):c.61C>T (p.Pro21Ser) rs1861471264 0.00001
NM_014679.5(CEP57):c.621+13G>A rs747178717 0.00001
NM_014679.5(CEP57):c.621+9A>G rs1472625294 0.00001
NM_014679.5(CEP57):c.69G>T (p.Arg23Ser) rs2496120202 0.00001
NM_014679.5(CEP57):c.701T>G (p.Leu234Trp) rs750192070 0.00001
NM_014679.5(CEP57):c.707C>A (p.Thr236Asn) rs762912636 0.00001
NM_014679.5(CEP57):c.763A>T (p.Asn255Tyr) rs1001489205 0.00001
NM_014679.5(CEP57):c.81C>A (p.Ser27Arg) rs1565311656 0.00001
NM_014679.5(CEP57):c.824A>G (p.Tyr275Cys) rs759400733 0.00001
NM_014679.5(CEP57):c.832G>A (p.Ala278Thr) rs1188447916 0.00001
NM_014679.5(CEP57):c.862G>A (p.Asp288Asn) rs1029918025 0.00001
NM_014679.5(CEP57):c.896C>G (p.Pro299Arg) rs776778777 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.952A>G (p.Ser318Gly) rs199857540 0.00001
NM_014679.5(CEP57):c.968A>G (p.Asn323Ser) rs1266159669 0.00001
NM_014679.5(CEP57):c.974G>A (p.Arg325Gln) rs1047306549 0.00001
NM_014679.5(CEP57):c.983A>G (p.Asn328Ser) rs1005543441 0.00001
NM_014679.5(CEP57):c.98C>T (p.Ser33Leu) rs562909477 0.00001
NC_000011.9:g.(?_95523863)_(95569448_?)dup
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) rs2496325739
NM_014679.5(CEP57):c.1016G>A (p.Arg339Gln)
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.1048C>G (p.Pro350Ala)
NM_014679.5(CEP57):c.1058C>T (p.Ser353Phe) rs1555053893
NM_014679.5(CEP57):c.1061A>G (p.Asn354Ser)
NM_014679.5(CEP57):c.1063G>A (p.Gly355Ser) rs202115720
NM_014679.5(CEP57):c.1068T>G (p.Ile356Met) rs2496326685
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.1108G>A (p.Glu370Lys)
NM_014679.5(CEP57):c.1127+3G>A rs2135374408
NM_014679.5(CEP57):c.1127+5G>A rs766035570
NM_014679.5(CEP57):c.1128T>C (p.Phe376=) rs2496336087
NM_014679.5(CEP57):c.1147A>G (p.Lys383Glu) rs370861671
NM_014679.5(CEP57):c.1154T>C (p.Ile385Thr)
NM_014679.5(CEP57):c.1163C>T (p.Ser388Leu) rs778871999
NM_014679.5(CEP57):c.1165C>G (p.Pro389Ala) rs1590960094
NM_014679.5(CEP57):c.1187A>G (p.Lys396Arg) rs2135378752
NM_014679.5(CEP57):c.1193A>T (p.Glu398Val)
NM_014679.5(CEP57):c.11C>G (p.Ala4Gly) rs563708574
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) rs573450584
NM_014679.5(CEP57):c.1255C>T (p.Arg419Ter) rs1565335443
NM_014679.5(CEP57):c.1263C>A (p.Tyr421Ter) rs2496338364
NM_014679.5(CEP57):c.1267G>A (p.Ala423Thr) rs761802161
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.1296G>C (p.Lys432Asn) rs1590962339
NM_014679.5(CEP57):c.1297_1305del (p.Gln433_Lys435del) rs761197192
NM_014679.5(CEP57):c.1300AAG[1] (p.Lys435del)
NM_014679.5(CEP57):c.1301A>C (p.Lys434Thr) rs2496351020
NM_014679.5(CEP57):c.131C>T (p.Pro44Leu) rs2135259624
NM_014679.5(CEP57):c.1325del (p.Lys442fs) rs2496351327
NM_014679.5(CEP57):c.1331T>C (p.Leu444Pro) rs1468744386
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) rs2496351851
NM_014679.5(CEP57):c.1352G>A (p.Ser451Asn)
NM_014679.5(CEP57):c.1357C>G (p.Arg453Gly) rs1395763725
NM_014679.5(CEP57):c.1357_1362del (p.Arg453_Ser454del) rs2496352211
NM_014679.5(CEP57):c.1363G>A (p.Gly455Arg) rs2496352340
NM_014679.5(CEP57):c.1364G>A (p.Gly455Glu) rs1565336775
NM_014679.5(CEP57):c.1391A>C (p.Asp464Ala)
NM_014679.5(CEP57):c.1396A>G (p.Met466Val) rs765144759
NM_014679.5(CEP57):c.1406G>A (p.Arg469Lys) rs2496353321
NM_014679.5(CEP57):c.1421_1430del (p.Arg474fs) rs1477051347
NM_014679.5(CEP57):c.142A>G (p.Ser48Gly)
NM_014679.5(CEP57):c.142A>T (p.Ser48Cys) rs766124955
NM_014679.5(CEP57):c.1430dup (p.Asn477fs) rs749940581
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) rs2496354034
NM_014679.5(CEP57):c.1466A>G (p.Asn489Ser) rs1050934936
NM_014679.5(CEP57):c.1490G>T (p.Cys497Phe)
NM_014679.5(CEP57):c.1496A>G (p.Asp499Gly) rs778341440
NM_014679.5(CEP57):c.152G>T (p.Arg51Leu) rs549840259
NM_014679.5(CEP57):c.163A>G (p.Ser55Gly) rs779205392
NM_014679.5(CEP57):c.181T>C (p.Tyr61His)
NM_014679.5(CEP57):c.185C>T (p.Pro62Leu) rs2135260052
NM_014679.5(CEP57):c.202+5T>C
NM_014679.5(CEP57):c.202+6C>T rs1185295732
NM_014679.5(CEP57):c.203C>T (p.Ala68Val)
NM_014679.5(CEP57):c.205A>G (p.Ile69Val) rs1862131344
NM_014679.5(CEP57):c.207A>G (p.Ile69Met) rs2496219743
NM_014679.5(CEP57):c.215C>T (p.Ala72Val) rs1862131689
NM_014679.5(CEP57):c.217C>T (p.Leu73Phe) rs1862131809
NM_014679.5(CEP57):c.263T>C (p.Ile88Thr) rs1862134368
NM_014679.5(CEP57):c.274G>A (p.Glu92Lys) rs2496220540
NM_014679.5(CEP57):c.274G>C (p.Glu92Gln) rs2496220540
NM_014679.5(CEP57):c.292T>C (p.Ser98Pro) rs1862135682
NM_014679.5(CEP57):c.297A>T (p.Arg99Ser) rs1227554215
NM_014679.5(CEP57):c.29C>T (p.Ser10Phe) rs752283181
NM_014679.5(CEP57):c.32G>T (p.Gly11Val) rs2135220118
NM_014679.5(CEP57):c.335T>A (p.Ile112Lys) rs1296533991
NM_014679.5(CEP57):c.341A>T (p.Glu114Val) rs765402486
NM_014679.5(CEP57):c.347A>G (p.Glu116Gly) rs2135318947
NM_014679.5(CEP57):c.35C>T (p.Ser12Phe) rs1400279865
NM_014679.5(CEP57):c.365A>C (p.Glu122Ala) rs758749076
NM_014679.5(CEP57):c.365A>T (p.Glu122Val)
NM_014679.5(CEP57):c.372G>T (p.Lys124Asn)
NM_014679.5(CEP57):c.376A>G (p.Asn126Asp)
NM_014679.5(CEP57):c.378T>A (p.Asn126Lys) rs1233148579
NM_014679.5(CEP57):c.378T>G (p.Asn126Lys)
NM_014679.5(CEP57):c.381A>C (p.Gln127His) rs2496222362
NM_014679.5(CEP57):c.382+6T>C rs2496222422
NM_014679.5(CEP57):c.39C>G (p.His13Gln) rs531068389
NM_014679.5(CEP57):c.402A>C (p.Leu134Phe) rs2496226116
NM_014679.5(CEP57):c.422A>T (p.Asn141Ile) rs149196489
NM_014679.5(CEP57):c.424C>A (p.Leu142Ile) rs2496226387
NM_014679.5(CEP57):c.448A>T (p.Met150Leu) rs1392775846
NM_014679.5(CEP57):c.45+11_45+12insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCAG
NM_014679.5(CEP57):c.45+4A>G
NM_014679.5(CEP57):c.461T>C (p.Ile154Thr) rs889087291
NM_014679.5(CEP57):c.487T>C (p.Ser163Pro) rs2496227190
NM_014679.5(CEP57):c.48C>A (p.Asn16Lys) rs974481023
NM_014679.5(CEP57):c.499A>G (p.Lys167Glu) rs2496227335
NM_014679.5(CEP57):c.4G>A (p.Ala2Thr) rs878854985
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 rs780780494
NM_014679.5(CEP57):c.504+5G>A rs1252981393
NM_014679.5(CEP57):c.504+5_504+8del
NM_014679.5(CEP57):c.504+6T>G rs2496227523
NM_014679.5(CEP57):c.505-6T>C
NM_014679.5(CEP57):c.505-9_505-6del rs1565326346
NM_014679.5(CEP57):c.505G>A (p.Val169Ile) rs749224682
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) rs2496254983
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) rs2496255158
NM_014679.5(CEP57):c.552C>A (p.Ser184Arg) rs765801435
NM_014679.5(CEP57):c.557T>C (p.Leu186Pro)
NM_014679.5(CEP57):c.559G>A (p.Glu187Lys) rs1862364446
NM_014679.5(CEP57):c.568G>A (p.Asp190Asn) rs2496255408
NM_014679.5(CEP57):c.56C>G (p.Ala19Gly) rs1294147722
NM_014679.5(CEP57):c.575T>C (p.Leu192Pro) rs1862365071
NM_014679.5(CEP57):c.589A>G (p.Asn197Asp)
NM_014679.5(CEP57):c.599C>A (p.Thr200Asn) rs757212650
NM_014679.5(CEP57):c.601A>G (p.Thr201Ala) rs2135338342
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) rs750363422
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) rs1264656942
NM_014679.5(CEP57):c.699G>A (p.Glu233=)
NM_014679.5(CEP57):c.704A>G (p.Gln235Arg) rs2135351781
NM_014679.5(CEP57):c.718A>G (p.Thr240Ala) rs2496283490
NM_014679.5(CEP57):c.721A>C (p.Asn241His)
NM_014679.5(CEP57):c.723T>G (p.Asn241Lys) rs76411609
NM_014679.5(CEP57):c.727C>G (p.Leu243Val)
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) rs1322393368
NM_014679.5(CEP57):c.766G>C (p.Ala256Pro)
NM_014679.5(CEP57):c.767C>T (p.Ala256Val) rs2135352101
NM_014679.5(CEP57):c.781A>G (p.Lys261Glu) rs2496284610
NM_014679.5(CEP57):c.784A>C (p.Lys262Gln) rs2496284664
NM_014679.5(CEP57):c.787A>C (p.Lys263Gln) rs1555052344
NM_014679.5(CEP57):c.790T>A (p.Ser264Thr)
NM_014679.5(CEP57):c.805A>G (p.Lys269Glu)
NM_014679.5(CEP57):c.808-11_808-7del rs1323476356
NM_014679.5(CEP57):c.812G>C (p.Ser271Thr) rs1195501898
NM_014679.5(CEP57):c.821A>G (p.Asn274Ser) rs2135354357
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.866T>C (p.Met289Thr) rs2496290593
NM_014679.5(CEP57):c.869C>T (p.Pro290Leu)
NM_014679.5(CEP57):c.86T>G (p.Val29Gly) rs1269849943
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.8C>T (p.Ala3Val) rs1351785176
NM_014679.5(CEP57):c.901C>T (p.His301Tyr)
NM_014679.5(CEP57):c.905C>A (p.Ala302Asp) rs2496324527
NM_014679.5(CEP57):c.907G>A (p.Val303Met)
NM_014679.5(CEP57):c.908T>C (p.Val303Ala) rs1421598228
NM_014679.5(CEP57):c.911T>C (p.Val304Ala) rs2496324648
NM_014679.5(CEP57):c.923A>G (p.Gln308Arg) rs2135373107
NM_014679.5(CEP57):c.957A>C (p.Lys319Asn)
NM_014679.5(CEP57):c.968A>T (p.Asn323Ile)
NM_014679.5(CEP57):c.974G>C (p.Arg325Pro) rs1047306549
NM_014679.5(CEP57):c.998C>T (p.Ala333Val) rs2496325669

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.