ClinVar Miner

List of variants in gene CEP120 reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_001375405.1(CEP120):c.2647C>T (p.Arg883Cys) rs140306974 0.00066
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.1684A>G (p.Thr562Ala) rs147277049 0.00028
NM_001375405.1(CEP120):c.2926A>G (p.Arg976Gly) rs145436175 0.00023
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.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.1333A>T (p.Ile445Phe) rs753763495 0.00009
NM_001375405.1(CEP120):c.612+5G>A rs762000520 0.00008
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.409A>G (p.Lys137Glu) rs200983311 0.00006
NM_001375405.1(CEP120):c.499A>G (p.Ile167Val) rs200059033 0.00006
NM_001375405.1(CEP120):c.1846T>C (p.Ser616Pro) rs765938298 0.00005
NM_001375405.1(CEP120):c.634C>G (p.Leu212Val) rs779407868 0.00005
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.1274C>G (p.Ala425Gly) rs1196167686 0.00003
NM_001375405.1(CEP120):c.1493G>A (p.Arg498Gln) rs764318008 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.2259C>A (p.Asp753Glu) rs771949596 0.00002
NM_001375405.1(CEP120):c.38C>A (p.Ser13Tyr) rs772928146 0.00002
NM_001375405.1(CEP120):c.65A>G (p.Lys22Arg) rs763850647 0.00002
NM_001375405.1(CEP120):c.1081C>T (p.His361Tyr) rs1409356450 0.00001
NM_001375405.1(CEP120):c.121A>G (p.Thr41Ala) rs1774507881 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.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.2333A>G (p.Glu778Gly) rs200477463 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.2785A>C (p.Lys929Gln) rs1768847284 0.00001
NM_001375405.1(CEP120):c.508G>C (p.Val170Leu) rs756502328 0.00001
NM_001375405.1(CEP120):c.623G>A (p.Cys208Tyr) rs370960719 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
NM_001375405.1(CEP120):c.1034C>T (p.Ser345Phe) rs1772365923
NM_001375405.1(CEP120):c.1038+6T>C rs1064796555
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.113A>T (p.Gln38Leu)
NM_001375405.1(CEP120):c.1151C>A (p.Ser384Tyr)
NM_001375405.1(CEP120):c.1190A>C (p.Asp397Ala)
NM_001375405.1(CEP120):c.1304A>G (p.Asn435Ser)
NM_001375405.1(CEP120):c.1318G>A (p.Ala440Thr)
NM_001375405.1(CEP120):c.1391A>T (p.His464Leu) rs776098623
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.1621A>G (p.Ser541Gly) rs1771927226
NM_001375405.1(CEP120):c.1681A>G (p.Lys561Glu)
NM_001375405.1(CEP120):c.1720C>T (p.Arg574Cys)
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.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.1862G>T (p.Gly621Val)
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.1928C>G (p.Thr643Arg)
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.2175G>C (p.Gln725His)
NM_001375405.1(CEP120):c.2185G>A (p.Val729Met)
NM_001375405.1(CEP120):c.2196+5G>A
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.2344C>T (p.Arg782Cys)
NM_001375405.1(CEP120):c.2345G>A (p.Arg782His) rs768733124
NM_001375405.1(CEP120):c.2418C>A (p.Asp806Glu) rs1770933357
NM_001375405.1(CEP120):c.2458A>G (p.Ile820Val)
NM_001375405.1(CEP120):c.2481+6C>T
NM_001375405.1(CEP120):c.2494A>G (p.Arg832Gly) rs2127002614
NM_001375405.1(CEP120):c.2548C>G (p.Arg850Gly) rs772596480
NM_001375405.1(CEP120):c.2580+4T>G
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.2740G>A (p.Glu914Lys) rs1768853529
NM_001375405.1(CEP120):c.2753A>T (p.Tyr918Phe)
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.285C>G (p.Ile95Met) rs367752008
NM_001375405.1(CEP120):c.286G>A (p.Val96Ile)
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.464-8C>G
NM_001375405.1(CEP120):c.469G>A (p.Ala157Thr) rs1379324177
NM_001375405.1(CEP120):c.52C>T (p.Arg18Trp) rs371099291
NM_001375405.1(CEP120):c.559A>C (p.Thr187Pro)
NM_001375405.1(CEP120):c.649C>T (p.Pro217Ser) rs1772538722
NM_001375405.1(CEP120):c.736G>A (p.Glu246Lys)
NM_001375405.1(CEP120):c.76C>T (p.His26Tyr)
NM_001375405.1(CEP120):c.772A>G (p.Ile258Val)
NM_001375405.1(CEP120):c.779G>T (p.Arg260Leu) rs189429890
NM_001375405.1(CEP120):c.797A>G (p.Gln266Arg)
NM_001375405.1(CEP120):c.842G>A (p.Gly281Glu)
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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