ClinVar Miner

List of variants studied for parkinsonian-pyramidal syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 319
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HGVS dbSNP gnomAD frequency
NM_012179.4(FBXO7):c.345G>A (p.Met115Ile) rs11107 0.40992
NM_012179.4(FBXO7):c.949C>T (p.Leu317=) rs9726 0.40979
NM_012179.4(FBXO7):c.540A>G (p.Pro180=) rs41311141 0.03195
NM_012179.4(FBXO7):c.968-14T>G rs77327421 0.01681
NM_012179.4(FBXO7):c.1125A>G (p.Leu375=) rs147911892 0.00660
NM_012179.4(FBXO7):c.122+9G>A rs192327462 0.00407
NM_012179.4(FBXO7):c.693C>T (p.Ser231=) rs61752254 0.00283
NM_012179.4(FBXO7):c.601G>A (p.Val201Met) rs61730783 0.00151
NM_012179.4(FBXO7):c.1144+9C>T rs199954341 0.00106
NM_012179.4(FBXO7):c.1453G>A (p.Val485Ile) rs141286570 0.00054
NM_012179.4(FBXO7):c.110C>G (p.Thr37Ser) rs773027248 0.00034
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala) rs143041875 0.00032
NM_012179.4(FBXO7):c.1144+10G>A rs201880373 0.00029
NM_012179.4(FBXO7):c.1505A>G (p.Asn502Ser) rs144538200 0.00029
NM_012179.4(FBXO7):c.1495G>A (p.Gly499Ser) rs369612645 0.00026
NM_012179.4(FBXO7):c.303T>C (p.Asn101=) rs373293691 0.00025
NM_012179.4(FBXO7):c.1552C>T (p.Arg518Trp) rs374363283 0.00017
NM_012179.4(FBXO7):c.1182+18T>G rs201875880 0.00016
NM_012179.4(FBXO7):c.155A>G (p.Tyr52Cys) rs550610502 0.00016
NM_012179.4(FBXO7):c.274G>C (p.Asp92His) rs139135860 0.00016
NM_012179.4(FBXO7):c.1070C>T (p.Ala357Val) rs141068487 0.00014
NM_012179.4(FBXO7):c.123-10T>G rs200664364 0.00013
NM_012179.4(FBXO7):c.291A>C (p.Ser97=) rs369892815 0.00012
NM_012179.4(FBXO7):c.1272C>T (p.Phe424=) rs577160947 0.00011
NM_012179.4(FBXO7):c.213G>A (p.Gly71=) rs149180516 0.00011
NM_012179.4(FBXO7):c.1100A>G (p.Asn367Ser) rs764006085 0.00010
NM_012179.4(FBXO7):c.595T>C (p.Leu199=) rs749987502 0.00010
NM_012179.4(FBXO7):c.169A>G (p.Thr57Ala) rs760306475 0.00009
NM_012179.4(FBXO7):c.319G>A (p.Ala107Thr) rs138222812 0.00009
NM_012179.4(FBXO7):c.1413G>A (p.Thr471=) rs375919269 0.00008
NM_012179.4(FBXO7):c.1441C>T (p.Arg481Cys) rs148272407 0.00008
NM_012179.4(FBXO7):c.652G>A (p.Glu218Lys) rs376214763 0.00008
NM_012179.4(FBXO7):c.917G>A (p.Arg306His) rs771599282 0.00008
NM_012179.4(FBXO7):c.944C>T (p.Pro315Leu) rs148602613 0.00008
NM_012179.4(FBXO7):c.1221G>A (p.Pro407=) rs201127594 0.00007
NM_012179.4(FBXO7):c.354A>G (p.Glu118=) rs748046325 0.00007
NM_012179.4(FBXO7):c.912C>T (p.Leu304=) rs377240853 0.00007
NM_012179.4(FBXO7):c.1506T>C (p.Asn502=) rs765344006 0.00006
NM_012179.4(FBXO7):c.408C>T (p.Asp136=) rs776288097 0.00006
NM_012179.4(FBXO7):c.418-11T>C rs376694972 0.00006
NM_012179.4(FBXO7):c.122+13C>T rs944559473 0.00005
NM_012179.4(FBXO7):c.587A>G (p.Asn196Ser) rs548204763 0.00005
NM_012179.4(FBXO7):c.1385G>T (p.Ser462Ile) rs149552421 0.00004
NM_012179.4(FBXO7):c.1537C>T (p.Arg513Trp) rs745848474 0.00004
NM_012179.4(FBXO7):c.803A>G (p.Asn268Ser) rs188111542 0.00004
NM_012179.4(FBXO7):c.839T>C (p.Leu280Pro) rs776439796 0.00004
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter) rs151103559 0.00003
NM_012179.4(FBXO7):c.1053C>T (p.Ser351=) rs1249945609 0.00003
NM_012179.4(FBXO7):c.1082A>G (p.Asp361Gly) rs765132485 0.00003
NM_012179.4(FBXO7):c.1144+19T>C rs186189213 0.00003
NM_012179.4(FBXO7):c.1183-15T>G rs534389109 0.00003
NM_012179.4(FBXO7):c.1312C>T (p.Arg438Cys) rs757568839 0.00003
NM_012179.4(FBXO7):c.1490G>C (p.Gly497Ala) rs769453042 0.00003
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp) rs142471722 0.00003
NM_012179.4(FBXO7):c.252G>A (p.Ala84=) rs572633515 0.00003
NM_012179.4(FBXO7):c.33C>T (p.Thr11=) rs1315299761 0.00003
NM_012179.4(FBXO7):c.465G>A (p.Ala155=) rs765523844 0.00003
NM_012179.4(FBXO7):c.4A>C (p.Arg2=) rs1445305869 0.00003
NM_012179.4(FBXO7):c.564A>G (p.Gln188=) rs374263493 0.00003
NM_012179.4(FBXO7):c.675G>A (p.Pro225=) rs749321931 0.00003
NM_012179.4(FBXO7):c.812T>C (p.Ile271Thr) rs369263505 0.00003
NM_012179.4(FBXO7):c.1048C>T (p.Arg350Cys) rs780834791 0.00002
NM_012179.4(FBXO7):c.1141C>T (p.Arg381Ter) rs78099169 0.00002
NM_012179.4(FBXO7):c.1218C>T (p.Ser406=) rs754657649 0.00002
NM_012179.4(FBXO7):c.1388C>T (p.Ser463Leu) rs1182785309 0.00002
NM_012179.4(FBXO7):c.1530C>T (p.Ser510=) rs1057521329 0.00002
NM_012179.4(FBXO7):c.249A>G (p.Pro83=) rs1419561803 0.00002
NM_012179.4(FBXO7):c.256A>G (p.Asn86Asp) rs759929611 0.00002
NM_012179.4(FBXO7):c.330C>T (p.Ser110=) rs564650251 0.00002
NM_012179.4(FBXO7):c.364G>A (p.Asp122Asn) rs772662803 0.00002
NM_012179.4(FBXO7):c.646-10C>T rs367584088 0.00002
NM_012179.4(FBXO7):c.661G>C (p.Ala221Pro) rs901331947 0.00002
NM_012179.4(FBXO7):c.787+17G>A rs557876473 0.00002
NM_012179.4(FBXO7):c.873G>A (p.Gly291=) rs768310928 0.00002
NM_012179.4(FBXO7):c.967+17T>C rs1232347641 0.00002
NM_012179.4(FBXO7):c.999C>T (p.Val333=) rs1191841298 0.00002
NM_012179.4(FBXO7):c.1009T>C (p.Leu337=) rs754811367 0.00001
NM_012179.4(FBXO7):c.100C>T (p.Leu34=) rs1481064018 0.00001
NM_012179.4(FBXO7):c.1026G>C (p.Arg342=) rs758247538 0.00001
NM_012179.4(FBXO7):c.1071G>A (p.Ala357=) rs1188844530 0.00001
NM_012179.4(FBXO7):c.1089T>C (p.Phe363=) rs1250777790 0.00001
NM_012179.4(FBXO7):c.1145-8C>T rs751528878 0.00001
NM_012179.4(FBXO7):c.114G>C (p.Trp38Cys) rs1315592404 0.00001
NM_012179.4(FBXO7):c.1155C>G (p.Val385=) rs1470345400 0.00001
NM_012179.4(FBXO7):c.1182+7A>G rs374774633 0.00001
NM_012179.4(FBXO7):c.1183-20T>C rs774108382 0.00001
NM_012179.4(FBXO7):c.1183-4del rs1399849415 0.00001
NM_012179.4(FBXO7):c.1183-7T>C rs1164533838 0.00001
NM_012179.4(FBXO7):c.1183-9T>C rs767348987 0.00001
NM_012179.4(FBXO7):c.1213G>T (p.Glu405Ter) rs1342038737 0.00001
NM_012179.4(FBXO7):c.1215A>G (p.Glu405=) rs1206966123 0.00001
NM_012179.4(FBXO7):c.122+10G>T rs1305664313 0.00001
NM_012179.4(FBXO7):c.122+17G>A rs1258057988 0.00001
NM_012179.4(FBXO7):c.123-20T>G rs747086405 0.00001
NM_012179.4(FBXO7):c.1248A>G (p.Pro416=) rs780131024 0.00001
NM_012179.4(FBXO7):c.1251G>A (p.Ser417=) rs768834341 0.00001
NM_012179.4(FBXO7):c.1264A>T (p.Ile422Phe) rs1555884880 0.00001
NM_012179.4(FBXO7):c.1269A>G (p.Pro423=) rs138312243 0.00001
NM_012179.4(FBXO7):c.127A>G (p.Asn43Asp) rs775290396 0.00001
NM_012179.4(FBXO7):c.1314C>T (p.Arg438=) rs750914176 0.00001
NM_012179.4(FBXO7):c.133C>T (p.Arg45Ter) rs1370252127 0.00001
NM_012179.4(FBXO7):c.1362T>C (p.Leu454=) rs1330055408 0.00001
NM_012179.4(FBXO7):c.1368T>C (p.Tyr456=) rs771788871 0.00001
NM_012179.4(FBXO7):c.1386T>G (p.Ser462Arg) rs1837515279 0.00001
NM_012179.4(FBXO7):c.1470A>G (p.Gly490=) rs2057591736 0.00001
NM_012179.4(FBXO7):c.1497C>T (p.Gly499=) rs373124830 0.00001
NM_012179.4(FBXO7):c.1527C>A (p.Pro509=) rs758609287 0.00001
NM_012179.4(FBXO7):c.1566G>C (p.Met522Ile) rs753092182 0.00001
NM_012179.4(FBXO7):c.251C>T (p.Ala84Val) rs201729077 0.00001
NM_012179.4(FBXO7):c.269_270del (p.Ser90fs) rs750398883 0.00001
NM_012179.4(FBXO7):c.30G>A (p.Arg10=) rs1394756502 0.00001
NM_012179.4(FBXO7):c.32C>T (p.Thr11Ile) rs1233525301 0.00001
NM_012179.4(FBXO7):c.417+20A>G rs899576795 0.00001
NM_012179.4(FBXO7):c.418-2A>T rs762209257 0.00001
NM_012179.4(FBXO7):c.418-7T>C rs1191875613 0.00001
NM_012179.4(FBXO7):c.447G>A (p.Glu149=) rs1012166328 0.00001
NM_012179.4(FBXO7):c.462T>C (p.Asn154=) rs759902395 0.00001
NM_012179.4(FBXO7):c.468T>C (p.His156=) rs1456021873 0.00001
NM_012179.4(FBXO7):c.48G>A (p.Val16=) rs776121022 0.00001
NM_012179.4(FBXO7):c.521C>T (p.Ser174Leu) rs376455464 0.00001
NM_012179.4(FBXO7):c.522G>A (p.Ser174=) rs772581980 0.00001
NM_012179.4(FBXO7):c.645+13A>G rs777298117 0.00001
NM_012179.4(FBXO7):c.645+19A>T rs144041512 0.00001
NM_012179.4(FBXO7):c.646-15C>T rs1778708082 0.00001
NM_012179.4(FBXO7):c.646-9G>A rs1205866315 0.00001
NM_012179.4(FBXO7):c.651C>T (p.Thr217=) rs371348055 0.00001
NM_012179.4(FBXO7):c.709C>T (p.Gln237Ter) rs2057490468 0.00001
NM_012179.4(FBXO7):c.729C>T (p.Cys243=) rs750785708 0.00001
NM_012179.4(FBXO7):c.787+13C>T rs772254661 0.00001
NM_012179.4(FBXO7):c.788-15T>A rs756445853 0.00001
NM_012179.4(FBXO7):c.788-16_788-13del rs770191156 0.00001
NM_012179.4(FBXO7):c.792A>G (p.Thr264=) rs779008559 0.00001
NM_012179.4(FBXO7):c.879T>C (p.Asn293=) rs372547071 0.00001
NM_012179.4(FBXO7):c.893_894insT (p.Lys299fs) rs2057531939 0.00001
NM_012179.4(FBXO7):c.894C>T (p.Tyr298=) rs929847581 0.00001
NM_012179.4(FBXO7):c.909A>G (p.Lys303=) rs753236615 0.00001
NM_012179.4(FBXO7):c.921C>T (p.Leu307=) rs1190983281 0.00001
NM_012179.4(FBXO7):c.961C>T (p.Arg321Ter) rs369105683 0.00001
NM_012179.4(FBXO7):c.967+14T>C rs747684984 0.00001
NM_012179.4(FBXO7):c.968-18C>G rs1171799027 0.00001
NM_012179.4(FBXO7):c.970C>T (p.Leu324=) rs762185670 0.00001
NM_012179.4(FBXO7):c.987A>G (p.Val329=) rs761014790 0.00001
NC_000022.10:g.(?_32870990)_(32875282_?)dup
NC_000022.10:g.(?_32891460)_(32894517_?)del
NC_000022.10:g.(?_32894111)_(32894517_?)del
NM_012179.4(FBXO7):c.1041G>A (p.Leu347=) rs2057549196
NM_012179.4(FBXO7):c.1044del (p.Asp348fs)
NM_012179.4(FBXO7):c.1062T>G (p.Ser354=) rs1273517402
NM_012179.4(FBXO7):c.1086C>T (p.Leu362=) rs1348830671
NM_012179.4(FBXO7):c.1123T>C (p.Leu375=)
NM_012179.4(FBXO7):c.1144+10G>T rs201880373
NM_012179.4(FBXO7):c.1144+14T>C
NM_012179.4(FBXO7):c.1145-14C>A rs763809959
NM_012179.4(FBXO7):c.1145-20T>G rs1212272555
NM_012179.4(FBXO7):c.1145-8del rs2544669349
NM_012179.4(FBXO7):c.1145-9C>A rs2544669346
NM_012179.4(FBXO7):c.117G>T (p.Gly39=) rs2544651204
NM_012179.4(FBXO7):c.1181_1182+1del rs2057568606
NM_012179.4(FBXO7):c.1182+12T>A rs2544669444
NM_012179.4(FBXO7):c.1183-10T>A rs2544671621
NM_012179.4(FBXO7):c.1183-11T>G rs2544671620
NM_012179.4(FBXO7):c.1183-19_1183-16del rs2544671604
NM_012179.4(FBXO7):c.1183-2_1183-1del rs2544671633
NM_012179.4(FBXO7):c.1183-7del rs2544671616
NM_012179.4(FBXO7):c.1183C>T (p.Leu395=) rs1328083173
NM_012179.4(FBXO7):c.1188C>A (p.Tyr396Ter) rs2057587604
NM_012179.4(FBXO7):c.1198C>A (p.His400Asn) rs2057587664
NM_012179.4(FBXO7):c.1206_1207dup (p.Arg403fs) rs749019340
NM_012179.4(FBXO7):c.120C>T (p.Tyr40=) rs2544651213
NM_012179.4(FBXO7):c.1217C>T (p.Ser406Phe)
NM_012179.4(FBXO7):c.122+12C>T
NM_012179.4(FBXO7):c.122+14G>C rs1369333964
NM_012179.4(FBXO7):c.122+16G>A rs2544651255
NM_012179.4(FBXO7):c.122+3A>G rs2544651221
NM_012179.4(FBXO7):c.122+7dup rs1199998875
NM_012179.4(FBXO7):c.1220del (p.Pro407fs) rs2057587984
NM_012179.4(FBXO7):c.1221G>T (p.Pro407=) rs201127594
NM_012179.4(FBXO7):c.123-12C>T rs2544654779
NM_012179.4(FBXO7):c.123-20T>C rs747086405
NM_012179.4(FBXO7):c.1236G>A (p.Val412=) rs1373592655
NM_012179.4(FBXO7):c.1236G>T (p.Val412=) rs1373592655
NM_012179.4(FBXO7):c.1268_1272dup (p.Tyr425fs) rs749534144
NM_012179.4(FBXO7):c.1271_1272delinsAT (p.Phe424Tyr) rs1601520476
NM_012179.4(FBXO7):c.1278C>T (p.Pro426=) rs2544671834
NM_012179.4(FBXO7):c.1299A>G (p.Pro433=) rs1261727648
NM_012179.4(FBXO7):c.1302T>C (p.Phe434=) rs2057589365
NM_012179.4(FBXO7):c.1308C>T (p.Ser436=) rs2544671886
NM_012179.4(FBXO7):c.1309T>A (p.Ser437Thr) rs2544671889
NM_012179.4(FBXO7):c.1344T>A (p.Tyr448Ter) rs1273648145
NM_012179.4(FBXO7):c.135A>G (p.Arg45=) rs1568971962
NM_012179.4(FBXO7):c.1365C>G (p.Pro455=) rs1352182950
NM_012179.4(FBXO7):c.1371T>G (p.Val457=) rs2544672001
NM_012179.4(FBXO7):c.1380A>G (p.Pro460=) rs2057590533
NM_012179.4(FBXO7):c.1392C>T (p.Leu464=) rs770900457
NM_012179.4(FBXO7):c.1398T>C (p.Pro466=)
NM_012179.4(FBXO7):c.1408G>T (p.Glu470Ter) rs2544672059
NM_012179.4(FBXO7):c.1416C>T (p.Pro472=) rs1291041758
NM_012179.4(FBXO7):c.1419C>T (p.Ser473=) rs1395140786
NM_012179.4(FBXO7):c.1451del (p.Pro484fs) rs1344213916
NM_012179.4(FBXO7):c.1453G>C (p.Val485Leu) rs141286570
NM_012179.4(FBXO7):c.1467A>G (p.Pro489=) rs777499512
NM_012179.4(FBXO7):c.1476C>T (p.Asn492=) rs961054439
NM_012179.4(FBXO7):c.1491G>A (p.Gly497=) rs2544672218
NM_012179.4(FBXO7):c.1492C>T (p.Arg498Ter) rs121918304
NM_012179.4(FBXO7):c.1494A>G (p.Arg498=) rs1436586585
NM_012179.4(FBXO7):c.1497C>A (p.Gly499=) rs373124830
NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs) rs772175765
NM_012179.4(FBXO7):c.1541del (p.Pro514fs) rs2146009781
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His) rs34316445
NM_012179.4(FBXO7):c.1546G>T (p.Asp516Tyr) rs34316445
NM_012179.4(FBXO7):c.1553G>A (p.Arg518Gln) rs771304029
NM_012179.4(FBXO7):c.156C>G (p.Tyr52Ter) rs1431512432
NM_012179.4(FBXO7):c.156C>T (p.Tyr52=) rs1431512432
NM_012179.4(FBXO7):c.174A>C (p.Gly58=) rs2544654882
NM_012179.4(FBXO7):c.185C>A (p.Thr62Asn) rs2057446436
NM_012179.4(FBXO7):c.195A>G (p.Ser65=) rs1203923753
NM_012179.4(FBXO7):c.1A>C (p.Met1Leu) rs753392528
NM_012179.4(FBXO7):c.1A>G (p.Met1Val) rs753392528
NM_012179.4(FBXO7):c.201G>A (p.Gly67=)
NM_012179.4(FBXO7):c.284A>T (p.His95Leu) rs771482489
NM_012179.4(FBXO7):c.2T>A (p.Met1Lys) rs945794813
NM_012179.4(FBXO7):c.2T>G (p.Met1Arg) rs945794813
NM_012179.4(FBXO7):c.306G>A (p.Glu102=) rs905363046
NM_012179.4(FBXO7):c.309A>G (p.Gln103=)
NM_012179.4(FBXO7):c.316_317del (p.Leu106fs) rs1327023585
NM_012179.4(FBXO7):c.33C>G (p.Thr11=) rs1315299761
NM_012179.4(FBXO7):c.345G>C (p.Met115Ile) rs11107
NM_012179.4(FBXO7):c.349G>T (p.Asp117Tyr) rs2544655172
NM_012179.4(FBXO7):c.366_367insC (p.Ser123fs)
NM_012179.4(FBXO7):c.377del (p.Gly126fs) rs2057448454
NM_012179.4(FBXO7):c.378A>G (p.Gly126=) rs2544655220
NM_012179.4(FBXO7):c.384A>G (p.Ala128=) rs2544655233
NM_012179.4(FBXO7):c.393T>C (p.Ser131=) rs1248147111
NM_012179.4(FBXO7):c.399T>C (p.Val133=)
NM_012179.4(FBXO7):c.400T>G (p.Trp134Gly) rs770619083
NM_012179.4(FBXO7):c.40C>T (p.Leu14=) rs1411850391
NM_012179.4(FBXO7):c.411C>T (p.Asp137=) rs2544655355
NM_012179.4(FBXO7):c.417+18A>G rs1280969531
NM_012179.4(FBXO7):c.417+7A>G rs1328219815
NM_012179.4(FBXO7):c.418-16T>C rs1233766074
NM_012179.4(FBXO7):c.418-1G>C rs2544658938
NM_012179.4(FBXO7):c.418-2A>G rs762209257
NM_012179.4(FBXO7):c.426T>C (p.Pro142=) rs2544658958
NM_012179.4(FBXO7):c.430C>G (p.Gln144Glu) rs2057480636
NM_012179.4(FBXO7):c.432A>G (p.Gln144=) rs2544658969
NM_012179.4(FBXO7):c.437T>C (p.Phe146Ser) rs1435872093
NM_012179.4(FBXO7):c.444T>C (p.Ala148=) rs2544658983
NM_012179.4(FBXO7):c.45G>A (p.Glu15=) rs1470531746
NM_012179.4(FBXO7):c.464C>A (p.Ala155Glu) rs61730784
NM_012179.4(FBXO7):c.465G>T (p.Ala155=) rs765523844
NM_012179.4(FBXO7):c.497C>G (p.Ser166Ter) rs779737534
NM_012179.4(FBXO7):c.521C>A (p.Ser174Ter) rs376455464
NM_012179.4(FBXO7):c.531G>A (p.Gly177=) rs2544659169
NM_012179.4(FBXO7):c.537G>A (p.Val179=) rs2544659188
NM_012179.4(FBXO7):c.544dup (p.Ser182fs) rs2544659214
NM_012179.4(FBXO7):c.546A>G (p.Ser182=) rs2544659218
NM_012179.4(FBXO7):c.555C>T (p.Thr185=) rs2057482037
NM_012179.4(FBXO7):c.564_567del (p.Ser189fs) rs2544659247
NM_012179.4(FBXO7):c.571G>C (p.Asp191His) rs1021814487
NM_012179.4(FBXO7):c.573C>T (p.Asp191=) rs2544659278
NM_012179.4(FBXO7):c.575_576del (p.Cys192fs) rs778770873
NM_012179.4(FBXO7):c.579T>C (p.Ser193=) rs2544659293
NM_012179.4(FBXO7):c.593C>G (p.Ala198Gly) rs2057482701
NM_012179.4(FBXO7):c.603G>A (p.Val201=) rs748979295
NM_012179.4(FBXO7):c.622T>C (p.Leu208=) rs2544659388
NM_012179.4(FBXO7):c.630A>G (p.Ser210=) rs2544659404
NM_012179.4(FBXO7):c.645+12A>G rs2544659455
NM_012179.4(FBXO7):c.645+22_645+23del rs1201708753
NM_012179.4(FBXO7):c.646-14A>C
NM_012179.4(FBXO7):c.646-20C>G rs2544660275
NM_012179.4(FBXO7):c.646-6C>G
NM_012179.4(FBXO7):c.65C>T (p.Thr22Met) rs121918305
NM_012179.4(FBXO7):c.665T>G (p.Leu222Arg) rs1267712209
NM_012179.4(FBXO7):c.666G>C (p.Leu222=) rs903855574
NM_012179.4(FBXO7):c.674C>G (p.Pro225Arg) rs112660869
NM_012179.4(FBXO7):c.674C>T (p.Pro225Leu) rs112660869
NM_012179.4(FBXO7):c.697G>A (p.Val233Met) rs1388222868
NM_012179.4(FBXO7):c.726_727del (p.Cys243fs) rs1290655316
NM_012179.4(FBXO7):c.72G>A (p.Gly24=) rs2057417279
NM_012179.4(FBXO7):c.741C>T (p.Ser247=) rs1190620521
NM_012179.4(FBXO7):c.744T>C (p.Ala248=) rs2544660464
NM_012179.4(FBXO7):c.749_750del (p.Leu250fs)
NM_012179.4(FBXO7):c.787+11A>G rs2544660547
NM_012179.4(FBXO7):c.787+14A>G rs2544660550
NM_012179.4(FBXO7):c.788-11T>C rs2544662468
NM_012179.4(FBXO7):c.788-12_788-9del rs775737458
NM_012179.4(FBXO7):c.788-15_788-13del rs746152231
NM_012179.4(FBXO7):c.788-17_788-13del rs1568976180
NM_012179.4(FBXO7):c.788-8A>G rs374996611
NM_012179.4(FBXO7):c.788-9dup rs2544662472
NM_012179.4(FBXO7):c.795A>G (p.Leu265=) rs2057507875
NM_012179.4(FBXO7):c.801C>A (p.Ile267=) rs2544662507
NM_012179.4(FBXO7):c.821_822del (p.Val274fs) rs1157030138
NM_012179.4(FBXO7):c.846A>G (p.Glu282=) rs2544662576
NM_012179.4(FBXO7):c.84G>A (p.Ser28=) rs2544651118
NM_012179.4(FBXO7):c.850T>C (p.Phe284Leu)
NM_012179.4(FBXO7):c.871+15A>G
NM_012179.4(FBXO7):c.871+15_871+17del rs2145996802
NM_012179.4(FBXO7):c.872-15T>C rs1568977652
NM_012179.4(FBXO7):c.872-19A>G rs2544665125
NM_012179.4(FBXO7):c.872-4C>A rs2544665146
NM_012179.4(FBXO7):c.872-7A>T rs775581371
NM_012179.4(FBXO7):c.872-9dup rs766157901
NM_012179.4(FBXO7):c.899A>T (p.Asp300Val) rs2146000180
NM_012179.4(FBXO7):c.90G>A (p.Leu30=) rs1439686977
NM_012179.4(FBXO7):c.911T>A (p.Leu304His) rs2544665251
NM_012179.4(FBXO7):c.915_916del (p.Arg306fs) rs1568977722
NM_012179.4(FBXO7):c.917_918del (p.Arg306fs) rs2544665272
NM_012179.4(FBXO7):c.925A>T (p.Lys309Ter) rs1275677869
NM_012179.4(FBXO7):c.930C>T (p.Asp310=) rs2544665319
NM_012179.4(FBXO7):c.967+18G>C rs1260911957
NM_012179.4(FBXO7):c.967+9T>C rs1235622407
NM_012179.4(FBXO7):c.968-10_968-9del rs752442011
NM_012179.4(FBXO7):c.968-16_968-14del rs2544667374
NM_012179.4(FBXO7):c.968-17T>C rs2544667373
NM_012179.4(FBXO7):c.968-9T>G rs774729953
NM_012179.4(FBXO7):c.969A>G (p.Ala323=) rs2544667404
NM_012179.4(FBXO7):c.978A>G (p.Leu326=) rs1342571061
NM_012179.4(FBXO7):c.993G>T (p.Gly331=) rs766700888

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