ClinVar Miner

List of variants studied for Nephronophthisis 18 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 412
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HGVS dbSNP gnomAD frequency
NM_016122.3(CEP83):c.837T>C (p.Arg279=) rs4761611 0.75856
NM_016122.3(CEP83):c.1212A>G (p.Arg404=) rs12426243 0.09976
NM_016122.3(CEP83):c.626G>A (p.Arg209Gln) rs2271979 0.06722
NM_016122.3(CEP83):c.826C>T (p.Arg276Trp) rs74340001 0.04663
NM_016122.3(CEP83):c.1411C>T (p.Leu471=) rs139046818 0.01207
NM_016122.3(CEP83):c.437C>T (p.Ala146Val) rs115988985 0.01012
NM_016122.3(CEP83):c.408T>C (p.Asn136=) rs148769208 0.00729
NM_016122.3(CEP83):c.324+12T>A rs200764782 0.00370
NM_016122.3(CEP83):c.1203C>T (p.Leu401=) rs189675715 0.00239
NM_016122.3(CEP83):c.835C>T (p.Arg279Cys) rs79068264 0.00228
NM_016122.3(CEP83):c.1232T>C (p.Met411Thr) rs199617764 0.00216
NM_016122.3(CEP83):c.1582T>C (p.Leu528=) rs199593910 0.00204
NM_016122.3(CEP83):c.417+3A>G rs181264654 0.00187
NM_016122.3(CEP83):c.1565T>G (p.Leu522Arg) rs150415429 0.00133
NM_016122.3(CEP83):c.1151A>G (p.Lys384Arg) rs185058802 0.00076
NM_016122.3(CEP83):c.1634G>A (p.Arg545His) rs187309637 0.00076
NM_016122.3(CEP83):c.76G>A (p.Gly26Ser) rs199871798 0.00044
NM_016122.3(CEP83):c.1427G>T (p.Ser476Ile) rs568769580 0.00038
NM_016122.3(CEP83):c.1120C>T (p.Arg374Cys) rs200860374 0.00025
NM_016122.3(CEP83):c.549+18C>T rs376338939 0.00023
NM_016122.3(CEP83):c.1035A>G (p.Gln345=) rs200885817 0.00021
NM_016122.3(CEP83):c.1304T>A (p.Met435Lys) rs185212560 0.00016
NM_016122.3(CEP83):c.1554A>G (p.Glu518=) rs369224554 0.00016
NM_016122.3(CEP83):c.1660A>T (p.Asn554Tyr) rs200232390 0.00016
NM_016122.3(CEP83):c.1009C>A (p.Leu337Ile) rs201914992 0.00014
NM_016122.3(CEP83):c.1560G>A (p.Ala520=) rs375761489 0.00014
NM_016122.3(CEP83):c.1118A>T (p.Asp373Val) rs200971081 0.00013
NM_016122.3(CEP83):c.1280A>G (p.Glu427Gly) rs199501110 0.00013
NM_016122.3(CEP83):c.257T>A (p.Leu86His) rs199598238 0.00013
NM_016122.3(CEP83):c.696G>A (p.Ala232=) rs199828197 0.00013
NM_016122.3(CEP83):c.1707+8G>A rs370955378 0.00011
NM_016122.3(CEP83):c.1812-7T>C rs780431588 0.00011
NM_016122.3(CEP83):c.549+15A>G rs182004502 0.00011
NM_016122.3(CEP83):c.1889G>A (p.Arg630Gln) rs192349282 0.00010
NM_016122.3(CEP83):c.796C>G (p.Leu266Val) rs568103955 0.00010
NM_016122.3(CEP83):c.1812-8T>C rs747379878 0.00009
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter) rs369483167 0.00009
NM_016122.3(CEP83):c.936A>G (p.Val312=) rs542274719 0.00009
NM_016122.3(CEP83):c.352C>T (p.Leu118=) rs779860994 0.00008
NM_016122.3(CEP83):c.1419+14G>A rs373203051 0.00007
NM_016122.3(CEP83):c.1708-20G>A rs183937564 0.00007
NM_016122.3(CEP83):c.604G>C (p.Asp202His) rs200161629 0.00007
NM_016122.3(CEP83):c.1655A>T (p.Lys552Met) rs377015196 0.00006
NM_016122.3(CEP83):c.786A>G (p.Thr262=) rs200666634 0.00006
NM_016122.3(CEP83):c.907C>T (p.Arg303Ter) rs757301110 0.00006
NM_016122.3(CEP83):c.1339G>A (p.Val447Ile) rs748658606 0.00005
NM_016122.3(CEP83):c.417+13T>C rs201367920 0.00005
NM_016122.3(CEP83):c.87G>A (p.Ser29=) rs769834256 0.00005
NM_016122.3(CEP83):c.933+14T>C rs1041811776 0.00005
NM_016122.3(CEP83):c.1366G>A (p.Val456Met) rs183654043 0.00004
NM_016122.3(CEP83):c.1383A>G (p.Ala461=) rs768081253 0.00004
NM_016122.3(CEP83):c.1590G>A (p.Glu530=) rs552958562 0.00004
NM_016122.3(CEP83):c.1633C>T (p.Arg545Cys) rs374773620 0.00004
NM_016122.3(CEP83):c.1713A>G (p.Lys571=) rs777978756 0.00004
NM_016122.3(CEP83):c.1776A>G (p.Lys592=) rs369559006 0.00004
NM_016122.3(CEP83):c.1983A>G (p.Pro661=) rs755790354 0.00004
NM_016122.3(CEP83):c.24T>C (p.Asp8=) rs371676456 0.00004
NM_016122.3(CEP83):c.50C>T (p.Pro17Leu) rs980569493 0.00004
NM_016122.3(CEP83):c.961C>T (p.Leu321=) rs768055624 0.00004
NM_016122.3(CEP83):c.1016G>C (p.Arg339Thr) rs530002505 0.00003
NM_016122.3(CEP83):c.1194G>A (p.Lys398=) rs1454522956 0.00003
NM_016122.3(CEP83):c.120A>G (p.Leu40=) rs746359176 0.00003
NM_016122.3(CEP83):c.1292G>A (p.Arg431Gln) rs759737051 0.00003
NM_016122.3(CEP83):c.1419+4T>G rs753727360 0.00003
NM_016122.3(CEP83):c.1470T>C (p.Asn490=) rs780167307 0.00003
NM_016122.3(CEP83):c.1685G>A (p.Arg562Gln) rs182648141 0.00003
NM_016122.3(CEP83):c.2035C>T (p.Arg679Cys) rs771273063 0.00003
NM_016122.3(CEP83):c.434G>T (p.Arg145Ile) rs1320042850 0.00003
NM_016122.3(CEP83):c.671T>C (p.Leu224Ser) rs370654785 0.00003
NM_016122.3(CEP83):c.908G>A (p.Arg303Gln) rs754009093 0.00003
NM_016122.3(CEP83):c.1084G>A (p.Val362Ile) rs1421579602 0.00002
NM_016122.3(CEP83):c.1132C>T (p.Arg378Cys) rs373382478 0.00002
NM_016122.3(CEP83):c.1194-13T>G rs759397787 0.00002
NM_016122.3(CEP83):c.1260A>G (p.Gln420=) rs530508070 0.00002
NM_016122.3(CEP83):c.1323G>A (p.Arg441=) rs1202585370 0.00002
NM_016122.3(CEP83):c.1347A>G (p.Leu449=) rs1325616604 0.00002
NM_016122.3(CEP83):c.153A>T (p.Thr51=) rs777508313 0.00002
NM_016122.3(CEP83):c.1819G>A (p.Val607Ile) rs750912882 0.00002
NM_016122.3(CEP83):c.2016A>G (p.Gln672=) rs949604118 0.00002
NM_016122.3(CEP83):c.2031A>G (p.Leu677=) rs1555214323 0.00002
NM_016122.3(CEP83):c.21C>T (p.Thr7=) rs765216312 0.00002
NM_016122.3(CEP83):c.388A>G (p.Met130Val) rs756155321 0.00002
NM_016122.3(CEP83):c.397C>T (p.Arg133Cys) rs781589254 0.00002
NM_016122.3(CEP83):c.454C>T (p.Arg152Cys) rs377256366 0.00002
NM_016122.3(CEP83):c.549+19G>A rs1431950751 0.00002
NM_016122.3(CEP83):c.563A>C (p.Glu188Ala) rs898088818 0.00002
NM_016122.3(CEP83):c.611C>G (p.Thr204Arg) rs749493316 0.00002
NM_016122.3(CEP83):c.653T>C (p.Val218Ala) rs761638508 0.00002
NM_016122.3(CEP83):c.695C>T (p.Ala232Val) rs376769010 0.00002
NM_016122.3(CEP83):c.728C>T (p.Ala243Val) rs747518082 0.00002
NM_016122.3(CEP83):c.749G>T (p.Arg250Ile) rs745525513 0.00002
NM_016122.3(CEP83):c.801+19C>A rs1383301423 0.00002
NM_016122.3(CEP83):c.802-15T>C rs1017125059 0.00002
NM_016122.3(CEP83):c.852A>G (p.Leu284=) rs370191290 0.00002
NM_016122.3(CEP83):c.932A>C (p.Lys311Thr) rs375493761 0.00002
NM_016122.3(CEP83):c.1011A>G (p.Leu337=) rs761510362 0.00001
NM_016122.3(CEP83):c.1028A>G (p.Lys343Arg) rs1207972213 0.00001
NM_016122.3(CEP83):c.1048+6A>G rs562683007 0.00001
NM_016122.3(CEP83):c.1056G>A (p.Gln352=) rs1370476857 0.00001
NM_016122.3(CEP83):c.117G>C (p.Arg39Ser) rs772413915 0.00001
NM_016122.3(CEP83):c.1183C>G (p.Gln395Glu) rs763560797 0.00001
NM_016122.3(CEP83):c.121C>T (p.Arg41Ter) rs587777486 0.00001
NM_016122.3(CEP83):c.1243C>G (p.His415Asp) rs752099250 0.00001
NM_016122.3(CEP83):c.1244A>G (p.His415Arg) rs202152669 0.00001
NM_016122.3(CEP83):c.124T>C (p.Cys42Arg) rs778603039 0.00001
NM_016122.3(CEP83):c.1273C>G (p.Gln425Glu) rs370718016 0.00001
NM_016122.3(CEP83):c.1284G>A (p.Glu428=) rs775468824 0.00001
NM_016122.3(CEP83):c.1318A>T (p.Thr440Ser) rs1483402500 0.00001
NM_016122.3(CEP83):c.1365T>C (p.Ile455=) rs529684300 0.00001
NM_016122.3(CEP83):c.1369A>G (p.Thr457Ala) rs1200906037 0.00001
NM_016122.3(CEP83):c.1451C>A (p.Ser484Ter) rs777412559 0.00001
NM_016122.3(CEP83):c.1531C>T (p.Arg511Ter) rs1162641847 0.00001
NM_016122.3(CEP83):c.1544G>A (p.Ser515Asn) rs1416850005 0.00001
NM_016122.3(CEP83):c.1649A>G (p.Glu550Gly) rs2059234849 0.00001
NM_016122.3(CEP83):c.166C>T (p.His56Tyr) rs2063937105 0.00001
NM_016122.3(CEP83):c.173+3A>G rs1008800566 0.00001
NM_016122.3(CEP83):c.174-12A>T rs772447431 0.00001
NM_016122.3(CEP83):c.174-16C>T rs1463903103 0.00001
NM_016122.3(CEP83):c.1812-4T>A rs1314409801 0.00001
NM_016122.3(CEP83):c.1867C>T (p.Gln623Ter) rs1198459012 0.00001
NM_016122.3(CEP83):c.1878T>C (p.His626=) rs1236967361 0.00001
NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter) rs1207804224 0.00001
NM_016122.3(CEP83):c.1982C>T (p.Pro661Leu) rs369393274 0.00001
NM_016122.3(CEP83):c.2000A>G (p.Gln667Arg) rs752381662 0.00001
NM_016122.3(CEP83):c.2027C>G (p.Ser676Cys) rs369894676 0.00001
NM_016122.3(CEP83):c.2043A>T (p.Arg681Ser) rs773705721 0.00001
NM_016122.3(CEP83):c.2045T>C (p.Leu682Pro) rs1212565080 0.00001
NM_016122.3(CEP83):c.241C>T (p.Gln81Ter) rs368619022 0.00001
NM_016122.3(CEP83):c.258C>T (p.Leu86=) rs775780724 0.00001
NM_016122.3(CEP83):c.263T>C (p.Leu88Pro) rs2063896707 0.00001
NM_016122.3(CEP83):c.318A>G (p.Lys106=) rs201068376 0.00001
NM_016122.3(CEP83):c.324+18A>C rs1406029531 0.00001
NM_016122.3(CEP83):c.417+13del rs1261616795 0.00001
NM_016122.3(CEP83):c.41A>G (p.Asn14Ser) rs1267428590 0.00001
NM_016122.3(CEP83):c.422T>C (p.Val141Ala) rs765494844 0.00001
NM_016122.3(CEP83):c.431A>G (p.Tyr144Cys) rs757820515 0.00001
NM_016122.3(CEP83):c.456C>A (p.Arg152=) rs759273602 0.00001
NM_016122.3(CEP83):c.479C>T (p.Ser160Leu) rs747045010 0.00001
NM_016122.3(CEP83):c.480A>G (p.Ser160=) rs780444539 0.00001
NM_016122.3(CEP83):c.511C>T (p.Arg171Cys) rs372235599 0.00001
NM_016122.3(CEP83):c.512G>A (p.Arg171His) rs779396873 0.00001
NM_016122.3(CEP83):c.550-1G>A rs1555237944 0.00001
NM_016122.3(CEP83):c.569A>G (p.Asp190Gly) rs2061696691 0.00001
NM_016122.3(CEP83):c.571_573del (p.Lys191del) rs761860782 0.00001
NM_016122.3(CEP83):c.581T>C (p.Leu194Pro) rs765908199 0.00001
NM_016122.3(CEP83):c.582A>G (p.Leu194=) rs762860899 0.00001
NM_016122.3(CEP83):c.583C>T (p.Arg195Cys) rs550020211 0.00001
NM_016122.3(CEP83):c.587A>G (p.Asn196Ser) rs772202501 0.00001
NM_016122.3(CEP83):c.60A>G (p.Gly20=) rs764043904 0.00001
NM_016122.3(CEP83):c.612A>G (p.Thr204=) rs778151984 0.00001
NM_016122.3(CEP83):c.614A>G (p.Lys205Arg) rs1566032936 0.00001
NM_016122.3(CEP83):c.61G>A (p.Asp21Asn) rs1003708280 0.00001
NM_016122.3(CEP83):c.629T>G (p.Val210Gly) rs1370385732 0.00001
NM_016122.3(CEP83):c.643C>T (p.Arg215Ter) rs750092874 0.00001
NM_016122.3(CEP83):c.661T>C (p.Cys221Arg) rs1355622201 0.00001
NM_016122.3(CEP83):c.682G>A (p.Glu228Lys) rs770968672 0.00001
NM_016122.3(CEP83):c.701T>C (p.Leu234Ser) rs2061688764 0.00001
NM_016122.3(CEP83):c.731A>G (p.Gln244Arg) rs1340583178 0.00001
NM_016122.3(CEP83):c.760C>T (p.Arg254Trp) rs373726888 0.00001
NM_016122.3(CEP83):c.772G>C (p.Glu258Gln) rs201682129 0.00001
NM_016122.3(CEP83):c.790A>G (p.Arg264Gly) rs1197540570 0.00001
NM_016122.3(CEP83):c.792A>G (p.Arg264=) rs773428280 0.00001
NM_016122.3(CEP83):c.827G>A (p.Arg276Gln) rs772661302 0.00001
NM_016122.3(CEP83):c.842A>G (p.Glu281Gly) rs1383193849 0.00001
NM_016122.3(CEP83):c.855A>G (p.Gln285=) rs1277472976 0.00001
NM_016122.3(CEP83):c.860G>A (p.Ser287Asn) rs893839841 0.00001
NM_016122.3(CEP83):c.896A>G (p.His299Arg) rs751492070 0.00001
NM_016122.3(CEP83):c.921A>G (p.Thr307=) rs911675671 0.00001
NM_016122.3(CEP83):c.933+12T>C rs747884007 0.00001
NM_016122.3(CEP83):c.934G>A (p.Val312Ile) rs367764494 0.00001
NC_000012.11:g.(?_94634261)_(94806266_?)dup
NC_000012.11:g.(?_94794606)_(94806266_?)del
NM_016122.3(CEP83):c.1022G>C (p.Arg341Thr)
NM_016122.3(CEP83):c.1036A>G (p.Ser346Gly)
NM_016122.3(CEP83):c.1048+17C>T
NM_016122.3(CEP83):c.1049-11A>G rs1025973539
NM_016122.3(CEP83):c.1049-19T>G rs886076683
NM_016122.3(CEP83):c.1049G>A (p.Gly350Glu)
NM_016122.3(CEP83):c.1055A>G (p.Gln352Arg) rs2137016531
NM_016122.3(CEP83):c.1060_1063del (p.Asp354fs) rs1276979881
NM_016122.3(CEP83):c.1064A>T (p.Asn355Ile)
NM_016122.3(CEP83):c.1067_1068insTA (p.Glu356fs) rs1064794347
NM_016122.3(CEP83):c.1101G>C (p.Val367=) rs2137015997
NM_016122.3(CEP83):c.1112A>C (p.Glu371Ala)
NM_016122.3(CEP83):c.1116G>A (p.Lys372=) rs2137015791
NM_016122.3(CEP83):c.1126T>C (p.Leu376=)
NM_016122.3(CEP83):c.1131dup (p.Arg378fs) rs2061113374
NM_016122.3(CEP83):c.114A>G (p.Glu38=)
NM_016122.3(CEP83):c.1151AAG[2] (p.Glu386del)
NM_016122.3(CEP83):c.1160G>A (p.Gly387Asp)
NM_016122.3(CEP83):c.1165C>T (p.Gln389Ter) rs2061111812
NM_016122.3(CEP83):c.1170del (p.Lys390fs)
NM_016122.3(CEP83):c.1175T>G (p.Val392Gly) rs2137014975
NM_016122.3(CEP83):c.1177G>A (p.Val393Ile)
NM_016122.3(CEP83):c.1180T>G (p.Leu394Val)
NM_016122.3(CEP83):c.1183C>T (p.Gln395Ter)
NM_016122.3(CEP83):c.1193+10T>C
NM_016122.3(CEP83):c.1193+5G>A rs767362608
NM_016122.3(CEP83):c.1194-15G>T
NM_016122.3(CEP83):c.1194-15_1194-13del rs2137013138
NM_016122.3(CEP83):c.1203C>G (p.Leu401=) rs189675715
NM_016122.3(CEP83):c.1234_1237del (p.Lys412fs) rs780500128
NM_016122.3(CEP83):c.1243C>A (p.His415Asn)
NM_016122.3(CEP83):c.1263T>C (p.Ser421=)
NM_016122.3(CEP83):c.1281A>G (p.Glu427=)
NM_016122.3(CEP83):c.1291C>T (p.Arg431Trp) rs111647062
NM_016122.3(CEP83):c.1298C>T (p.Ser433Leu)
NM_016122.3(CEP83):c.1311_1315del (p.Glu437fs) rs1187876547
NM_016122.3(CEP83):c.1320C>T (p.Thr440=)
NM_016122.3(CEP83):c.1321A>G (p.Arg441Gly) rs577668407
NM_016122.3(CEP83):c.1327G>T (p.Glu443Ter)
NM_016122.3(CEP83):c.1343+12A>G
NM_016122.3(CEP83):c.1343+18A>G rs540895757
NM_016122.3(CEP83):c.1343+8A>T
NM_016122.3(CEP83):c.1344-11G>A rs2136541763
NM_016122.3(CEP83):c.1344-4T>G rs766543884
NM_016122.3(CEP83):c.1344G>C (p.Arg448Ser) rs901969513
NM_016122.3(CEP83):c.1354C>A (p.Gln452Lys) rs190452572
NM_016122.3(CEP83):c.1392A>G (p.Glu464=) rs2136541098
NM_016122.3(CEP83):c.1394A>C (p.Lys465Thr)
NM_016122.3(CEP83):c.1400A>G (p.Glu467Gly) rs1281820117
NM_016122.3(CEP83):c.1413A>G (p.Leu471=)
NM_016122.3(CEP83):c.1414A>C (p.Lys472Gln)
NM_016122.3(CEP83):c.1419+13C>T
NM_016122.3(CEP83):c.1419+17G>T
NM_016122.3(CEP83):c.1420-14del rs753878262
NM_016122.3(CEP83):c.1420-17C>G rs2136516500
NM_016122.3(CEP83):c.1437_1438delinsAT (p.Ile480Phe) rs2059330819
NM_016122.3(CEP83):c.1440C>G (p.Ile480Met) rs2136515778
NM_016122.3(CEP83):c.1446G>A (p.Val482=)
NM_016122.3(CEP83):c.1449T>A (p.Thr483=)
NM_016122.3(CEP83):c.1462_1465del (p.Ser488fs) rs2136515432
NM_016122.3(CEP83):c.1486A>G (p.Asn496Asp) rs1232030056
NM_016122.3(CEP83):c.1514G>A (p.Arg505Lys)
NM_016122.3(CEP83):c.152C>T (p.Thr51Ile) rs1336325509
NM_016122.3(CEP83):c.1532G>A (p.Arg511Gln) rs587777487
NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro) rs587777487
NM_016122.3(CEP83):c.1532G>T (p.Arg511Leu) rs587777487
NM_016122.3(CEP83):c.1537T>A (p.Phe513Ile) rs2136514603
NM_016122.3(CEP83):c.1539T>C (p.Phe513=) rs2136514567
NM_016122.3(CEP83):c.1542A>G (p.Arg514=)
NM_016122.3(CEP83):c.1542_1558del (p.Arg514fs) rs2136514301
NM_016122.3(CEP83):c.155T>C (p.Leu52Pro) rs1464832161
NM_016122.3(CEP83):c.1564C>T (p.Leu522=)
NM_016122.3(CEP83):c.1566A>G (p.Leu522=)
NM_016122.3(CEP83):c.1577+13C>T
NM_016122.3(CEP83):c.1577+9T>G rs2059325161
NM_016122.3(CEP83):c.1578-14C>T rs2059238832
NM_016122.3(CEP83):c.1578-17A>G
NM_016122.3(CEP83):c.1578-3C>T
NM_016122.3(CEP83):c.1580del (p.Thr527fs)
NM_016122.3(CEP83):c.1604G>T (p.Trp535Leu)
NM_016122.3(CEP83):c.1617G>A (p.Lys539=)
NM_016122.3(CEP83):c.1621A>T (p.Lys541Ter) rs2136488957
NM_016122.3(CEP83):c.1645A>G (p.Arg549Gly)
NM_016122.3(CEP83):c.1661A>G (p.Asn554Ser)
NM_016122.3(CEP83):c.166C>A (p.His56Asn) rs2063937105
NM_016122.3(CEP83):c.1680G>T (p.Leu560=) rs747886072
NM_016122.3(CEP83):c.1684C>T (p.Arg562Ter) rs906852829
NM_016122.3(CEP83):c.1693A>G (p.Ile565Val)
NM_016122.3(CEP83):c.1707+15T>C
NM_016122.3(CEP83):c.1708-5T>C rs1970107246
NM_016122.3(CEP83):c.1729A>T (p.Lys577Ter)
NM_016122.3(CEP83):c.173+18A>G
NM_016122.3(CEP83):c.174-5del rs753511833
NM_016122.3(CEP83):c.174-5dup rs753511833
NM_016122.3(CEP83):c.174-8A>C
NM_016122.3(CEP83):c.1761C>A (p.Val587=) rs752114061
NM_016122.3(CEP83):c.1770A>G (p.Ala590=)
NM_016122.3(CEP83):c.177_197dup (p.His63_Glu69dup) rs755361880
NM_016122.3(CEP83):c.1783T>C (p.Leu595=) rs764718970
NM_016122.3(CEP83):c.1791A>G (p.Thr597=) rs1970094652
NM_016122.3(CEP83):c.1804T>C (p.Leu602=)
NM_016122.3(CEP83):c.1812-20del
NM_016122.3(CEP83):c.1812-6T>C rs2136277072
NM_016122.3(CEP83):c.1812-9_1812-5del
NM_016122.3(CEP83):c.1824T>C (p.Pro608=)
NM_016122.3(CEP83):c.1842_1853del (p.Gln616_Leu619del) rs2136276664
NM_016122.3(CEP83):c.1853G>T (p.Arg618Ile) rs2136276642
NM_016122.3(CEP83):c.1863T>C (p.Asp621=) rs1969606999
NM_016122.3(CEP83):c.1895T>C (p.Leu632Pro) rs1969602482
NM_016122.3(CEP83):c.1915C>G (p.Pro639Ala)
NM_016122.3(CEP83):c.1930A>G (p.Ile644Val)
NM_016122.3(CEP83):c.1937C>T (p.Pro646Leu) rs1456934142
NM_016122.3(CEP83):c.1945T>C (p.Phe649Leu)
NM_016122.3(CEP83):c.1948C>T (p.Gln650Ter)
NM_016122.3(CEP83):c.1962G>A (p.Met654Ile)
NM_016122.3(CEP83):c.1971C>T (p.Ser657=)
NM_016122.3(CEP83):c.1973T>G (p.Met658Arg)
NM_016122.3(CEP83):c.1980A>T (p.Leu660=)
NM_016122.3(CEP83):c.1987C>A (p.Pro663Thr)
NM_016122.3(CEP83):c.1988C>T (p.Pro663Leu)
NM_016122.3(CEP83):c.2001+20G>T rs2136275434
NM_016122.3(CEP83):c.2002-12C>G
NM_016122.3(CEP83):c.2002-15C>G
NM_016122.3(CEP83):c.2002-18del
NM_016122.3(CEP83):c.2007del (p.Glu669fs) rs922686745
NM_016122.3(CEP83):c.201A>G (p.Gln67=) rs1442068953
NM_016122.3(CEP83):c.2020G>A (p.Glu674Lys) rs1969381470
NM_016122.3(CEP83):c.2028T>C (p.Ser676=)
NM_016122.3(CEP83):c.2036G>A (p.Arg679His)
NM_016122.3(CEP83):c.2039A>G (p.Lys680Arg) rs2136266090
NM_016122.3(CEP83):c.2046A>G (p.Leu682=) rs1593051395
NM_016122.3(CEP83):c.205G>A (p.Glu69Lys)
NM_016122.3(CEP83):c.2061A>G (p.Thr687=)
NM_016122.3(CEP83):c.2065_2075del (p.Gln689fs) rs1969370890
NM_016122.3(CEP83):c.2066A>G (p.Gln689Arg)
NM_016122.3(CEP83):c.2076A>G (p.Gln692=) rs2136265647
NM_016122.3(CEP83):c.2097C>T (p.Ser699=) rs201148634
NM_016122.3(CEP83):c.2098G>A (p.Gly700Arg) rs753799181
NM_016122.3(CEP83):c.2099G>A (p.Gly700Glu) rs2136265331
NM_016122.3(CEP83):c.216C>T (p.His72=)
NM_016122.3(CEP83):c.232C>A (p.Gln78Lys) rs372337825
NM_016122.3(CEP83):c.232C>G (p.Gln78Glu) rs372337825
NM_016122.3(CEP83):c.236C>G (p.Thr79Ser) rs928177600
NM_016122.3(CEP83):c.236C>T (p.Thr79Ile) rs928177600
NM_016122.3(CEP83):c.246A>G (p.Glu82=)
NM_016122.3(CEP83):c.249A>T (p.Lys83Asn) rs2137783837
NM_016122.3(CEP83):c.253C>G (p.Gln85Glu) rs2063897316
NM_016122.3(CEP83):c.256C>T (p.Leu86Phe) rs764215872
NM_016122.3(CEP83):c.284TAG[1] (p.Val96del) rs1472544597
NM_016122.3(CEP83):c.286G>T (p.Val96Leu)
NM_016122.3(CEP83):c.288A>T (p.Val96=)
NM_016122.3(CEP83):c.289G>A (p.Glu97Lys)
NM_016122.3(CEP83):c.324+11A>G rs2137782009
NM_016122.3(CEP83):c.324+20T>C
NM_016122.3(CEP83):c.324+8A>G
NM_016122.3(CEP83):c.325-12T>G rs2063358599
NM_016122.3(CEP83):c.325-7A>G
NM_016122.3(CEP83):c.325-9A>G
NM_016122.3(CEP83):c.343T>C (p.Leu115=)
NM_016122.3(CEP83):c.360C>A (p.Ala120=)
NM_016122.3(CEP83):c.369A>G (p.Gln123=)
NM_016122.3(CEP83):c.391A>G (p.Arg131Gly) rs1207892286
NM_016122.3(CEP83):c.398G>A (p.Arg133His)
NM_016122.3(CEP83):c.404G>C (p.Arg135Thr)
NM_016122.3(CEP83):c.412G>A (p.Asp138Asn) rs2137619045
NM_016122.3(CEP83):c.414T>C (p.Asp138=)
NM_016122.3(CEP83):c.417+12A>G
NM_016122.3(CEP83):c.417+16T>C
NM_016122.3(CEP83):c.418-13A>G rs1254452772
NM_016122.3(CEP83):c.418-15G>A
NM_016122.3(CEP83):c.418-8C>T
NM_016122.3(CEP83):c.428A>C (p.Lys143Thr)
NM_016122.3(CEP83):c.445A>G (p.Asn149Asp)
NM_016122.3(CEP83):c.455G>T (p.Arg152Leu) rs767118598
NM_016122.3(CEP83):c.462A>G (p.Glu154=)
NM_016122.3(CEP83):c.464A>G (p.His155Arg) rs2137576540
NM_016122.3(CEP83):c.469T>A (p.Phe157Ile) rs768860397
NM_016122.3(CEP83):c.474C>G (p.Leu158=)
NM_016122.3(CEP83):c.485T>A (p.Phe162Tyr)
NM_016122.3(CEP83):c.48T>G (p.Phe16Leu)
NM_016122.3(CEP83):c.490C>G (p.His164Asp)
NM_016122.3(CEP83):c.495G>A (p.Gln165=)
NM_016122.3(CEP83):c.497A>C (p.Lys166Thr) rs2137575785
NM_016122.3(CEP83):c.499G>T (p.Glu167Ter) rs2137575733
NM_016122.3(CEP83):c.507T>C (p.Tyr169=)
NM_016122.3(CEP83):c.508G>A (p.Ala170Thr)
NM_016122.3(CEP83):c.525A>G (p.Glu175=)
NM_016122.3(CEP83):c.535A>C (p.Lys179Gln) rs2137574851
NM_016122.3(CEP83):c.540T>C (p.Tyr180=) rs2063212184
NM_016122.3(CEP83):c.549+14T>C
NM_016122.3(CEP83):c.565G>A (p.Glu189Lys)
NM_016122.3(CEP83):c.578A>G (p.Glu193Gly)
NM_016122.3(CEP83):c.584G>A (p.Arg195His) rs201341346
NM_016122.3(CEP83):c.584G>T (p.Arg195Leu) rs201341346
NM_016122.3(CEP83):c.606del (p.Leu203fs) rs2137174483
NM_016122.3(CEP83):c.607C>T (p.Leu203Phe)
NM_016122.3(CEP83):c.613A>G (p.Lys205Glu) rs770141064
NM_016122.3(CEP83):c.618C>G (p.Asp206Glu) rs2137174153
NM_016122.3(CEP83):c.639T>C (p.Leu213=)
NM_016122.3(CEP83):c.643C>G (p.Arg215Gly) rs750092874
NM_016122.3(CEP83):c.644G>A (p.Arg215Gln) rs1482040800
NM_016122.3(CEP83):c.651A>G (p.Lys217=)
NM_016122.3(CEP83):c.655T>C (p.Tyr219His)
NM_016122.3(CEP83):c.662G>A (p.Cys221Tyr) rs1289383879
NM_016122.3(CEP83):c.690A>T (p.Glu230Asp) rs763230501
NM_016122.3(CEP83):c.706G>A (p.Ala236Thr) rs2061688656
NM_016122.3(CEP83):c.711A>G (p.Glu237=)
NM_016122.3(CEP83):c.712A>G (p.Lys238Glu) rs777216890
NM_016122.3(CEP83):c.737A>G (p.Glu246Gly) rs2061686966
NM_016122.3(CEP83):c.741T>C (p.Asn247=)
NM_016122.3(CEP83):c.742G>A (p.Ala248Thr) rs2061686704
NM_016122.3(CEP83):c.764A>G (p.Gln255Arg) rs2061685409
NM_016122.3(CEP83):c.786A>T (p.Thr262=)
NM_016122.3(CEP83):c.801+16C>T
NM_016122.3(CEP83):c.801+20C>G rs747525069
NM_016122.3(CEP83):c.801+7T>G rs2137170599
NM_016122.3(CEP83):c.802-13G>T
NM_016122.3(CEP83):c.802-18A>G
NM_016122.3(CEP83):c.802-7A>G
NM_016122.3(CEP83):c.802-9G>A rs2061516640
NM_016122.3(CEP83):c.810A>C (p.Lys270Asn) rs764377749
NM_016122.3(CEP83):c.812A>C (p.Gln271Pro) rs2061515059
NM_016122.3(CEP83):c.827G>C (p.Arg276Pro)
NM_016122.3(CEP83):c.831A>G (p.Ala277=) rs2137120833
NM_016122.3(CEP83):c.836_837inv (p.Arg279His)
NM_016122.3(CEP83):c.858A>G (p.Ser286=) rs2137120227
NM_016122.3(CEP83):c.873T>C (p.Asn291=)
NM_016122.3(CEP83):c.888T>C (p.Asn296=)
NM_016122.3(CEP83):c.895C>A (p.His299Asn)
NM_016122.3(CEP83):c.903T>G (p.Ala301=)
NM_016122.3(CEP83):c.933+18T>G
NM_016122.3(CEP83):c.933+19C>A rs1228748483
NM_016122.3(CEP83):c.933+19_933+20del
NM_016122.3(CEP83):c.933+4A>C
NM_016122.3(CEP83):c.933+7T>G
NM_016122.3(CEP83):c.940G>T (p.Glu314Ter)
NM_016122.3(CEP83):c.948A>G (p.Lys316=)
NM_016122.3(CEP83):c.964G>A (p.Glu322Lys)
NM_016122.3(CEP83):c.980A>G (p.Lys327Arg) rs752116946
NM_016122.3(CEP83):c.984G>C (p.Leu328=) rs2061221198

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