ClinVar Miner

List of variants in gene CEP120 studied for Jeune syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 333
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HGVS dbSNP gnomAD frequency
NM_001375405.1(CEP120):c.2826T>C (p.Asp942=) rs1047438 0.71935
NM_001375405.1(CEP120):c.816C>T (p.His272=) rs6876883 0.44294
NM_001375405.1(CEP120):c.1804C>G (p.Leu602Val) rs6595440 0.39494
NM_001375405.1(CEP120):c.1431-9A>T rs3893854 0.34483
NM_001375405.1(CEP120):c.2637G>C (p.Gln879His) rs1047437 0.15997
NM_001375405.1(CEP120):c.2481+3100G>A rs1428387 0.04593
NM_001375405.1(CEP120):c.1431-7A>T rs63388160 0.04585
NM_001375405.1(CEP120):c.1431-12_1431-9del rs769322546 0.04498
NM_001375405.1(CEP120):c.1431-13_1431-9del rs772770081 0.03054
NM_001375405.1(CEP120):c.1431-8A>T rs761915664 0.02985
NM_001375405.1(CEP120):c.1105C>T (p.Pro369Ser) rs61747983 0.01738
NM_001375405.1(CEP120):c.1431-10_1431-9del rs1491225681 0.00803
NM_001375405.1(CEP120):c.2182A>G (p.Ser728Gly) rs61744334 0.00757
NM_001375405.1(CEP120):c.362A>G (p.Lys121Arg) rs147273517 0.00512
NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg) rs114281792 0.00421
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe) rs114280473 0.00417
NM_001375405.1(CEP120):c.2726+14A>T rs115044327 0.00396
NM_001375405.1(CEP120):c.2104-13_2104-12insTA rs749949328 0.00302
NM_001375405.1(CEP120):c.1256-18A>G rs371950460 0.00300
NM_001375405.1(CEP120):c.2145T>C (p.Thr715=) rs113911260 0.00294
NM_001375405.1(CEP120):c.2358+20A>G rs139462181 0.00170
NM_001375405.1(CEP120):c.810+7A>G rs376913078 0.00140
NM_001375405.1(CEP120):c.1764-6T>C rs376358503 0.00112
NM_001375405.1(CEP120):c.2358+14C>T rs114558677 0.00112
NM_001375405.1(CEP120):c.1039-19A>G rs188996721 0.00108
NM_001375405.1(CEP120):c.28A>G (p.Ile10Val) rs199793672 0.00096
NM_001375405.1(CEP120):c.1671G>A (p.Leu557=) rs75289011 0.00066
NM_001375405.1(CEP120):c.2647C>T (p.Arg883Cys) rs140306974 0.00066
NM_001375405.1(CEP120):c.2580+6T>G rs200418811 0.00062
NM_001375405.1(CEP120):c.1180C>T (p.Pro394Ser) rs200450605 0.00059
NM_001375405.1(CEP120):c.1119G>C (p.Lys373Asn) rs201571160 0.00047
NM_001375405.1(CEP120):c.1074G>A (p.Glu358=) rs199843371 0.00035
NM_001375405.1(CEP120):c.1431-11_1431-9del rs776090638 0.00033
NM_001375405.1(CEP120):c.1574T>C (p.Phe525Ser) rs567550166 0.00032
NM_001375405.1(CEP120):c.1684A>G (p.Thr562Ala) rs147277049 0.00028
NM_001375405.1(CEP120):c.27C>T (p.Leu9=) rs111851376 0.00028
NM_001375405.1(CEP120):c.2187G>A (p.Val729=) rs192078531 0.00025
NM_001375405.1(CEP120):c.2104-12dup rs759878384 0.00023
NM_001375405.1(CEP120):c.2926A>G (p.Arg976Gly) rs145436175 0.00023
NM_001375405.1(CEP120):c.2013+14T>C rs546872053 0.00021
NM_001375405.1(CEP120):c.340T>C (p.Leu114=) rs199922403 0.00019
NM_001375405.1(CEP120):c.196C>T (p.His66Tyr) rs751682861 0.00017
NM_001375405.1(CEP120):c.1484T>C (p.Val495Ala) rs150887058 0.00015
NM_001375405.1(CEP120):c.402C>T (p.Thr134=) rs143893793 0.00015
NM_001375405.1(CEP120):c.358A>G (p.Thr120Ala) rs202103949 0.00014
NM_001375405.1(CEP120):c.1760A>T (p.Gln587Leu) rs147430819 0.00011
NM_001375405.1(CEP120):c.2235G>C (p.Gln745His) rs201600892 0.00011
NM_001375405.1(CEP120):c.316A>C (p.Lys106Gln) rs568081479 0.00011
NM_001375405.1(CEP120):c.827G>A (p.Gly276Glu) rs201955087 0.00010
NM_001375405.1(CEP120):c.1038+20C>T rs368172739 0.00009
NM_001375405.1(CEP120):c.1333A>T (p.Ile445Phe) rs753763495 0.00009
NM_001375405.1(CEP120):c.1431-12T>A rs1224838538 0.00008
NM_001375405.1(CEP120):c.612+5G>A rs762000520 0.00008
NM_001375405.1(CEP120):c.280T>A (p.Tyr94Asn) rs777235472 0.00007
NM_001375405.1(CEP120):c.1721G>A (p.Arg574His) rs367748337 0.00006
NM_001375405.1(CEP120):c.2122C>G (p.Leu708Val) rs144490830 0.00006
NM_001375405.1(CEP120):c.2925C>T (p.Ile975=) rs147730520 0.00006
NM_001375405.1(CEP120):c.409A>G (p.Lys137Glu) rs200983311 0.00006
NM_001375405.1(CEP120):c.499A>G (p.Ile167Val) rs200059033 0.00006
NM_001375405.1(CEP120):c.610C>A (p.Gln204Lys) rs548355953 0.00006
NM_001375405.1(CEP120):c.1846T>C (p.Ser616Pro) rs765938298 0.00005
NM_001375405.1(CEP120):c.2103+7A>G rs764744920 0.00005
NM_001375405.1(CEP120):c.322-8T>C rs189324274 0.00005
NM_001375405.1(CEP120):c.634C>G (p.Leu212Val) rs779407868 0.00005
NM_001375405.1(CEP120):c.2104-13T>A rs779904226 0.00004
NM_001375405.1(CEP120):c.2119A>G (p.Ile707Val) rs200462051 0.00004
NM_001375405.1(CEP120):c.2237G>A (p.Arg746Gln) rs375645626 0.00004
NM_001375405.1(CEP120):c.2358+18T>C rs201232590 0.00004
NM_001375405.1(CEP120):c.2359-8T>A rs570367630 0.00004
NM_001375405.1(CEP120):c.2799T>C (p.His933=) rs775237242 0.00004
NM_001375405.1(CEP120):c.2889C>T (p.His963=) rs142459804 0.00004
NM_001375405.1(CEP120):c.963T>C (p.Leu321=) rs201148622 0.00004
NM_001375405.1(CEP120):c.1039-2A>T rs774440370 0.00003
NM_001375405.1(CEP120):c.1113G>A (p.Lys371=) rs375230630 0.00003
NM_001375405.1(CEP120):c.1274C>G (p.Ala425Gly) rs1196167686 0.00003
NM_001375405.1(CEP120):c.1493G>A (p.Arg498Gln) rs764318008 0.00003
NM_001375405.1(CEP120):c.177A>G (p.Glu59=) rs376374734 0.00003
NM_001375405.1(CEP120):c.2358+3T>G rs373782883 0.00003
NM_001375405.1(CEP120):c.2686G>A (p.Glu896Lys) rs780184609 0.00003
NM_001375405.1(CEP120):c.2690G>A (p.Arg897Gln) rs531728977 0.00003
NM_001375405.1(CEP120):c.304G>A (p.Ala102Thr) rs370142490 0.00003
NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro) rs367600930 0.00003
NM_001375405.1(CEP120):c.210A>G (p.Leu70=) rs554875614 0.00002
NM_001375405.1(CEP120):c.2259C>A (p.Asp753Glu) rs771949596 0.00002
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter) rs759125480 0.00002
NM_001375405.1(CEP120):c.38C>A (p.Ser13Tyr) rs772928146 0.00002
NM_001375405.1(CEP120):c.42C>T (p.Ile14=) rs374059490 0.00002
NM_001375405.1(CEP120):c.65A>G (p.Lys22Arg) rs763850647 0.00002
NM_001375405.1(CEP120):c.1002G>A (p.Val334=) rs753263238 0.00001
NM_001375405.1(CEP120):c.1081C>T (p.His361Tyr) rs1409356450 0.00001
NM_001375405.1(CEP120):c.108A>C (p.Gly36=) rs1289971154 0.00001
NM_001375405.1(CEP120):c.121A>G (p.Thr41Ala) rs1774507881 0.00001
NM_001375405.1(CEP120):c.1488A>G (p.Glu496=) rs1772033397 0.00001
NM_001375405.1(CEP120):c.1580+14T>C rs1772025870 0.00001
NM_001375405.1(CEP120):c.160A>G (p.Thr54Ala) rs1452117593 0.00001
NM_001375405.1(CEP120):c.16G>T (p.Asp6Tyr) rs531662259 0.00001
NM_001375405.1(CEP120):c.1763+7C>T rs375098616 0.00001
NM_001375405.1(CEP120):c.1831C>T (p.Arg611Cys) rs150132498 0.00001
NM_001375405.1(CEP120):c.1946T>C (p.Leu649Ser) rs773146730 0.00001
NM_001375405.1(CEP120):c.1990C>A (p.Gln664Lys) rs749655305 0.00001
NM_001375405.1(CEP120):c.1A>G (p.Met1Val) rs1486546438 0.00001
NM_001375405.1(CEP120):c.2014-20T>A rs1412278670 0.00001
NM_001375405.1(CEP120):c.2220G>T (p.Leu740=) rs750757836 0.00001
NM_001375405.1(CEP120):c.2333A>G (p.Glu778Gly) rs200477463 0.00001
NM_001375405.1(CEP120):c.2358+11G>A rs778675981 0.00001
NM_001375405.1(CEP120):c.2358+8A>C rs781621962 0.00001
NM_001375405.1(CEP120):c.2443C>T (p.Arg815Cys) rs757166785 0.00001
NM_001375405.1(CEP120):c.253G>A (p.Val85Ile) rs1255595388 0.00001
NM_001375405.1(CEP120):c.2606G>A (p.Arg869His) rs771132137 0.00001
NM_001375405.1(CEP120):c.2736A>G (p.Gln912=) rs758997502 0.00001
NM_001375405.1(CEP120):c.2785A>C (p.Lys929Gln) rs1768847284 0.00001
NM_001375405.1(CEP120):c.451C>T (p.Arg151Ter) rs757499322 0.00001
NM_001375405.1(CEP120):c.49+19G>A rs1774813689 0.00001
NM_001375405.1(CEP120):c.50-12C>T rs755652817 0.00001
NM_001375405.1(CEP120):c.508G>C (p.Val170Leu) rs756502328 0.00001
NM_001375405.1(CEP120):c.604T>C (p.Leu202=) rs1220874723 0.00001
NM_001375405.1(CEP120):c.623G>A (p.Cys208Tyr) rs370960719 0.00001
NM_001375405.1(CEP120):c.765T>C (p.Ser255=) rs1399621575 0.00001
NM_001375405.1(CEP120):c.802A>G (p.Lys268Glu) rs1421931952 0.00001
NM_001375405.1(CEP120):c.916G>A (p.Glu306Lys) rs777630050 0.00001
NM_001375405.1(CEP120):c.922G>C (p.Ala308Pro) rs772046806 0.00001
NM_001375405.1(CEP120):c.980A>C (p.Glu327Ala) rs1304562610 0.00001
NM_001375405.1(CEP120):c.991A>G (p.Thr331Ala) rs372144017 0.00001
NC_000005.9:g.(?_122682213)_(122758692_?)del
NM_001375405.1(CEP120):c.1018A>C (p.Arg340=)
NM_001375405.1(CEP120):c.1028dup (p.Asp344fs) rs2127071022
NM_001375405.1(CEP120):c.1034C>T (p.Ser345Phe) rs1772365923
NM_001375405.1(CEP120):c.1038+13C>T
NM_001375405.1(CEP120):c.1038+18T>A
NM_001375405.1(CEP120):c.1038+6T>C rs1064796555
NM_001375405.1(CEP120):c.1039-3del
NM_001375405.1(CEP120):c.1062G>C (p.Gln354His) rs775393475
NM_001375405.1(CEP120):c.106G>A (p.Gly36Arg)
NM_001375405.1(CEP120):c.1101A>C (p.Leu367Phe)
NM_001375405.1(CEP120):c.1122A>C (p.Thr374=)
NM_001375405.1(CEP120):c.1122A>G (p.Thr374=) rs372737011
NM_001375405.1(CEP120):c.1125T>C (p.Leu375=)
NM_001375405.1(CEP120):c.113A>T (p.Gln38Leu)
NM_001375405.1(CEP120):c.1151C>A (p.Ser384Tyr)
NM_001375405.1(CEP120):c.1161A>G (p.Pro387=)
NM_001375405.1(CEP120):c.1167C>T (p.His389=) rs2127068247
NM_001375405.1(CEP120):c.1190A>C (p.Asp397Ala)
NM_001375405.1(CEP120):c.1255+1G>A
NM_001375405.1(CEP120):c.1304A>G (p.Asn435Ser)
NM_001375405.1(CEP120):c.1305T>C (p.Asn435=)
NM_001375405.1(CEP120):c.1318G>A (p.Ala440Thr)
NM_001375405.1(CEP120):c.1323A>T (p.Ser441=)
NM_001375405.1(CEP120):c.1344A>G (p.Pro448=)
NM_001375405.1(CEP120):c.1391A>T (p.His464Leu) rs776098623
NM_001375405.1(CEP120):c.1397del (p.Leu466fs) rs781434539
NM_001375405.1(CEP120):c.1413A>C (p.Pro471=)
NM_001375405.1(CEP120):c.1430+7T>C
NM_001375405.1(CEP120):c.1431-11T>A
NM_001375405.1(CEP120):c.1431-11_1431-10dup
NM_001375405.1(CEP120):c.1431-15_1431-9del
NM_001375405.1(CEP120):c.1431-21_1431-10del
NM_001375405.1(CEP120):c.1431-4C>T
NM_001375405.1(CEP120):c.1431-7del rs34328840
NM_001375405.1(CEP120):c.1431-9_1431-6del rs1403821471
NM_001375405.1(CEP120):c.1431-9_1431-7del
NM_001375405.1(CEP120):c.1431-9_1431-8insT
NM_001375405.1(CEP120):c.1431-9_1431-8insTTTTTTTTTTTT rs1562047830
NM_001375405.1(CEP120):c.1449T>C (p.Phe483=)
NM_001375405.1(CEP120):c.1465A>C (p.Ile489Leu)
NM_001375405.1(CEP120):c.1477CCT[1] (p.Pro494del)
NM_001375405.1(CEP120):c.1492C>T (p.Arg498Trp)
NM_001375405.1(CEP120):c.151G>C (p.Glu51Gln)
NM_001375405.1(CEP120):c.1527C>T (p.Tyr509=)
NM_001375405.1(CEP120):c.1558C>T (p.Gln520Ter) rs2127059805
NM_001375405.1(CEP120):c.1580+11_1580+12dup
NM_001375405.1(CEP120):c.1581-6C>T
NM_001375405.1(CEP120):c.1584T>C (p.Ile528=) rs1223191516
NM_001375405.1(CEP120):c.1588T>C (p.Leu530=)
NM_001375405.1(CEP120):c.1621A>G (p.Ser541Gly) rs1771927226
NM_001375405.1(CEP120):c.162T>C (p.Thr54=)
NM_001375405.1(CEP120):c.1681A>G (p.Lys561Glu)
NM_001375405.1(CEP120):c.1683A>G (p.Lys561=)
NM_001375405.1(CEP120):c.1684dup (p.Thr562fs) rs2127055990
NM_001375405.1(CEP120):c.171T>C (p.Ala57=)
NM_001375405.1(CEP120):c.1720C>T (p.Arg574Cys)
NM_001375405.1(CEP120):c.1722T>C (p.Arg574=)
NM_001375405.1(CEP120):c.1741G>A (p.Val581Met)
NM_001375405.1(CEP120):c.1741G>C (p.Val581Leu)
NM_001375405.1(CEP120):c.1742T>C (p.Val581Ala)
NM_001375405.1(CEP120):c.1763+13A>C rs2127055694
NM_001375405.1(CEP120):c.1763+15A>C
NM_001375405.1(CEP120):c.1764-9T>C
NM_001375405.1(CEP120):c.1767A>C (p.Ser589=)
NM_001375405.1(CEP120):c.1804C>T (p.Leu602=)
NM_001375405.1(CEP120):c.1821A>G (p.Leu607=)
NM_001375405.1(CEP120):c.1831C>G (p.Arg611Gly) rs150132498
NM_001375405.1(CEP120):c.1832G>A (p.Arg611His) rs758625645
NM_001375405.1(CEP120):c.1843A>C (p.Ile615Leu) rs753544415
NM_001375405.1(CEP120):c.1854A>C (p.Ser618=) rs140836572
NM_001375405.1(CEP120):c.1860+13G>A
NM_001375405.1(CEP120):c.1861-12T>C
NM_001375405.1(CEP120):c.1861-17T>A rs2127049914
NM_001375405.1(CEP120):c.1861-17T>C rs2127049914
NM_001375405.1(CEP120):c.1861-2A>G
NM_001375405.1(CEP120):c.1862G>T (p.Gly621Val)
NM_001375405.1(CEP120):c.1887G>A (p.Pro629=)
NM_001375405.1(CEP120):c.1900C>G (p.Pro634Ala) rs748599073
NM_001375405.1(CEP120):c.1909_1910delinsGT (p.Cys637Val)
NM_001375405.1(CEP120):c.191C>T (p.Ala64Val)
NM_001375405.1(CEP120):c.1923C>T (p.Ile641=)
NM_001375405.1(CEP120):c.1928C>G (p.Thr643Arg)
NM_001375405.1(CEP120):c.192G>T (p.Ala64=)
NM_001375405.1(CEP120):c.1937G>A (p.Arg646His)
NM_001375405.1(CEP120):c.1943C>T (p.Thr648Met)
NM_001375405.1(CEP120):c.1948G>C (p.Glu650Gln) rs1280274264
NM_001375405.1(CEP120):c.1959A>G (p.Ala653=)
NM_001375405.1(CEP120):c.2013+1G>A
NM_001375405.1(CEP120):c.2014-13C>G rs1228982030
NM_001375405.1(CEP120):c.2014-14del rs766009969
NM_001375405.1(CEP120):c.2014-14dup
NM_001375405.1(CEP120):c.2014-2A>G
NM_001375405.1(CEP120):c.2022G>A (p.Gln674=)
NM_001375405.1(CEP120):c.207-12G>C
NM_001375405.1(CEP120):c.207-14_207-13del
NM_001375405.1(CEP120):c.207-19A>C
NM_001375405.1(CEP120):c.2088A>C (p.Ser696=)
NM_001375405.1(CEP120):c.2088A>T (p.Ser696=) rs761862745
NM_001375405.1(CEP120):c.2103+13G>A
NM_001375405.1(CEP120):c.2103+20T>G
NM_001375405.1(CEP120):c.2103+20_2103+23del rs2127047195
NM_001375405.1(CEP120):c.2104-12A>G rs1235912647
NM_001375405.1(CEP120):c.2104-15T>G
NM_001375405.1(CEP120):c.2104-15_2104-14insG
NM_001375405.1(CEP120):c.2104-18_2104-13del rs76942218
NM_001375405.1(CEP120):c.2104-9A>G
NM_001375405.1(CEP120):c.213G>A (p.Gln71=)
NM_001375405.1(CEP120):c.2160G>A (p.Glu720=) rs891338561
NM_001375405.1(CEP120):c.2164C>T (p.Arg722Ter)
NM_001375405.1(CEP120):c.2175G>C (p.Gln725His)
NM_001375405.1(CEP120):c.2185G>A (p.Val729Met)
NM_001375405.1(CEP120):c.2196+11C>T
NM_001375405.1(CEP120):c.2196+5G>A
NM_001375405.1(CEP120):c.2196+8A>G
NM_001375405.1(CEP120):c.2197-10T>G
NM_001375405.1(CEP120):c.2197-14G>A
NM_001375405.1(CEP120):c.2197-8G>T
NM_001375405.1(CEP120):c.2206dup (p.Glu736fs) rs2127034914
NM_001375405.1(CEP120):c.220C>A (p.Pro74Thr) rs1774369109
NM_001375405.1(CEP120):c.2226_2234del (p.Glu743_Gln745del)
NM_001375405.1(CEP120):c.2266C>T (p.Arg756Cys)
NM_001375405.1(CEP120):c.226A>G (p.Lys76Glu) rs1311902826
NM_001375405.1(CEP120):c.2283C>G (p.Asp761Glu) rs2127034566
NM_001375405.1(CEP120):c.2292C>G (p.His764Gln)
NM_001375405.1(CEP120):c.2301A>C (p.Glu767Asp)
NM_001375405.1(CEP120):c.2302C>T (p.Leu768=)
NM_001375405.1(CEP120):c.2313A>G (p.Leu771=)
NM_001375405.1(CEP120):c.2344C>T (p.Arg782Cys)
NM_001375405.1(CEP120):c.2345G>A (p.Arg782His) rs768733124
NM_001375405.1(CEP120):c.234A>G (p.Gln78=)
NM_001375405.1(CEP120):c.2358+10C>T
NM_001375405.1(CEP120):c.2377A>T (p.Lys793Ter)
NM_001375405.1(CEP120):c.2406A>G (p.Gln802=)
NM_001375405.1(CEP120):c.2418C>A (p.Asp806Glu) rs1770933357
NM_001375405.1(CEP120):c.2444G>A (p.Arg815His) rs142792779
NM_001375405.1(CEP120):c.2449C>T (p.Gln817Ter)
NM_001375405.1(CEP120):c.2458A>G (p.Ile820Val)
NM_001375405.1(CEP120):c.2481+20G>T
NM_001375405.1(CEP120):c.2481+6C>T
NM_001375405.1(CEP120):c.2482-20A>G rs1226218781
NM_001375405.1(CEP120):c.2494A>G (p.Arg832Gly) rs2127002614
NM_001375405.1(CEP120):c.2524C>T (p.Leu842=)
NM_001375405.1(CEP120):c.2548C>G (p.Arg850Gly) rs772596480
NM_001375405.1(CEP120):c.2580+2T>A
NM_001375405.1(CEP120):c.2580+4T>G
NM_001375405.1(CEP120):c.2581-16C>A
NM_001375405.1(CEP120):c.2581-16_2581-13del rs1386199029
NM_001375405.1(CEP120):c.2581-18= rs485847
NM_001375405.1(CEP120):c.2605C>T (p.Arg869Cys)
NM_001375405.1(CEP120):c.2619G>C (p.Gln873His) rs963767744
NM_001375405.1(CEP120):c.2638A>C (p.Met880Leu) rs763397454
NM_001375405.1(CEP120):c.2648G>A (p.Arg883His)
NM_001375405.1(CEP120):c.2659G>A (p.Ala887Thr)
NM_001375405.1(CEP120):c.2707A>G (p.Ile903Val)
NM_001375405.1(CEP120):c.2726+13A>G
NM_001375405.1(CEP120):c.2726+16G>T
NM_001375405.1(CEP120):c.2726+19T>C
NM_001375405.1(CEP120):c.2726+20T>C
NM_001375405.1(CEP120):c.2740G>A (p.Glu914Lys) rs1768853529
NM_001375405.1(CEP120):c.2743C>T (p.Gln915Ter)
NM_001375405.1(CEP120):c.2753A>T (p.Tyr918Phe)
NM_001375405.1(CEP120):c.2781A>T (p.Gly927=)
NM_001375405.1(CEP120):c.278G>A (p.Gly93Asp) rs1554106320
NM_001375405.1(CEP120):c.2824G>A (p.Asp942Asn)
NM_001375405.1(CEP120):c.2839C>T (p.Arg947Cys)
NM_001375405.1(CEP120):c.2840G>A (p.Arg947His) rs2303720
NM_001375405.1(CEP120):c.285C>G (p.Ile95Met) rs367752008
NM_001375405.1(CEP120):c.285C>T (p.Ile95=)
NM_001375405.1(CEP120):c.286G>A (p.Val96Ile)
NM_001375405.1(CEP120):c.2917C>T (p.Arg973Ter)
NM_001375405.1(CEP120):c.2924T>G (p.Ile975Ser) rs1554098663
NM_001375405.1(CEP120):c.2931G>A (p.Glu977=)
NM_001375405.1(CEP120):c.2961A>G (p.Ter987=)
NM_001375405.1(CEP120):c.303C>T (p.Thr101=)
NM_001375405.1(CEP120):c.321+1G>A
NM_001375405.1(CEP120):c.325C>T (p.Pro109Ser)
NM_001375405.1(CEP120):c.368A>T (p.Lys123Met)
NM_001375405.1(CEP120):c.397G>C (p.Glu133Gln)
NM_001375405.1(CEP120):c.464-18G>A
NM_001375405.1(CEP120):c.464-19C>A rs776387918
NM_001375405.1(CEP120):c.464-8C>G
NM_001375405.1(CEP120):c.464-9T>C
NM_001375405.1(CEP120):c.469G>A (p.Ala157Thr) rs1379324177
NM_001375405.1(CEP120):c.49+9C>T rs774559516
NM_001375405.1(CEP120):c.50-10G>C
NM_001375405.1(CEP120):c.50-17A>G
NM_001375405.1(CEP120):c.50-2113_206+103del
NM_001375405.1(CEP120):c.528C>T (p.Gly176=)
NM_001375405.1(CEP120):c.52C>T (p.Arg18Trp) rs371099291
NM_001375405.1(CEP120):c.559A>C (p.Thr187Pro)
NM_001375405.1(CEP120):c.60C>T (p.Phe20=)
NM_001375405.1(CEP120):c.613-7T>C
NM_001375405.1(CEP120):c.621A>G (p.Pro207=) rs754583755
NM_001375405.1(CEP120):c.621A>T (p.Pro207=)
NM_001375405.1(CEP120):c.649C>T (p.Pro217Ser) rs1772538722
NM_001375405.1(CEP120):c.672T>C (p.Ser224=)
NM_001375405.1(CEP120):c.736G>A (p.Glu246Lys)
NM_001375405.1(CEP120):c.762del (p.Ser254fs) rs1772529903
NM_001375405.1(CEP120):c.76C>T (p.His26Tyr)
NM_001375405.1(CEP120):c.772A>G (p.Ile258Val)
NM_001375405.1(CEP120):c.779G>A (p.Arg260His) rs189429890
NM_001375405.1(CEP120):c.779G>T (p.Arg260Leu) rs189429890
NM_001375405.1(CEP120):c.797A>G (p.Gln266Arg)
NM_001375405.1(CEP120):c.811-14C>G
NM_001375405.1(CEP120):c.842G>A (p.Gly281Glu)
NM_001375405.1(CEP120):c.882C>T (p.Gly294=)
NM_001375405.1(CEP120):c.896A>G (p.Asn299Ser)
NM_001375405.1(CEP120):c.94G>A (p.Ala32Thr)
NM_001375405.1(CEP120):c.991A>C (p.Thr331Pro)

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