ClinVar Miner

List of variants in gene CCNO studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 137
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021147.5(CCNO):c.382-14C>G rs72749883 0.06145
NM_021147.5(CCNO):c.790G>C (p.Gly264Arg) rs138440180 0.00719
NM_021147.5(CCNO):c.940G>A (p.Glu314Lys) rs114088695 0.00355
NM_021147.5(CCNO):c.780C>T (p.Ala260=) rs139167004 0.00334
NM_021147.5(CCNO):c.957G>A (p.Lys319=) rs7712656 0.00273
NM_021147.5(CCNO):c.1007C>T (p.Pro336Leu) rs115697956 0.00163
NM_021147.5(CCNO):c.134C>A (p.Pro45His) rs139606873 0.00150
NM_021147.5(CCNO):c.354G>A (p.Pro118=) rs368155527 0.00139
NM_021147.5(CCNO):c.107G>A (p.Arg36His) rs142265745 0.00067
NM_021147.5(CCNO):c.685G>A (p.Gly229Ser) rs139980939 0.00059
NM_021147.5(CCNO):c.1002G>C (p.Met334Ile) rs149215991 0.00056
NM_021147.5(CCNO):c.187T>C (p.Ser63Pro) rs377241996 0.00047
NM_021147.5(CCNO):c.605C>T (p.Ala202Val) rs143998638 0.00019
NM_021147.5(CCNO):c.62A>G (p.Asn21Ser) rs748757403 0.00015
NM_021147.5(CCNO):c.845T>C (p.Leu282Pro) rs753791521 0.00009
NM_021147.5(CCNO):c.206A>G (p.Asp69Gly) rs372247606 0.00008
NM_021147.5(CCNO):c.638T>C (p.Leu213Pro) rs775051461 0.00006
NM_021147.5(CCNO):c.887G>A (p.Arg296Gln) rs761492748 0.00006
NM_021147.5(CCNO):c.94A>C (p.Ser32Arg) rs373400250 0.00006
NM_021147.5(CCNO):c.16C>A (p.Pro6Thr) rs1299342018 0.00004
NM_021147.5(CCNO):c.333G>A (p.Ala111=) rs191035273 0.00004
NM_021147.5(CCNO):c.579C>T (p.His193=) rs552011098 0.00004
NM_021147.5(CCNO):c.688G>A (p.Ala230Thr) rs553351741 0.00004
NM_021147.5(CCNO):c.723G>A (p.Thr241=) rs777719468 0.00004
NM_021147.5(CCNO):c.843C>T (p.Ser281=) rs759691847 0.00004
NM_021147.5(CCNO):c.851C>T (p.Ala284Val) rs1000287085 0.00004
NM_021147.5(CCNO):c.1040C>T (p.Pro347Leu) rs547968661 0.00003
NM_021147.5(CCNO):c.567+10G>A rs755915635 0.00003
NM_021147.5(CCNO):c.787C>T (p.Arg263Trp) rs771099683 0.00003
NM_021147.5(CCNO):c.999C>T (p.His333=) rs143418535 0.00003
NM_021147.5(CCNO):c.210C>T (p.Gly70=) rs373209105 0.00002
NM_021147.5(CCNO):c.553_554del (p.Ile185fs) rs1745611424 0.00002
NM_021147.5(CCNO):c.785C>T (p.Ala262Val) rs150766906 0.00002
NM_021147.5(CCNO):c.945C>G (p.Asp315Glu) rs1240396964 0.00002
NM_021147.5(CCNO):c.1012C>G (p.Gln338Glu) rs770421646 0.00001
NM_021147.5(CCNO):c.156G>A (p.Pro52=) rs1359521554 0.00001
NM_021147.5(CCNO):c.166G>A (p.Gly56Ser) rs1489774896 0.00001
NM_021147.5(CCNO):c.183C>T (p.Phe61=) rs760832879 0.00001
NM_021147.5(CCNO):c.208G>A (p.Gly70Ser) rs369830529 0.00001
NM_021147.5(CCNO):c.219C>G (p.Ser73Arg) rs1405417412 0.00001
NM_021147.5(CCNO):c.30G>A (p.Ser10=) rs771067579 0.00001
NM_021147.5(CCNO):c.368C>T (p.Ala123Val) rs1217893462 0.00001
NM_021147.5(CCNO):c.371G>T (p.Arg124Leu) rs750998590 0.00001
NM_021147.5(CCNO):c.463T>A (p.Cys155Ser) rs758456393 0.00001
NM_021147.5(CCNO):c.567+9G>A rs926256890 0.00001
NM_021147.5(CCNO):c.589G>C (p.Val197Leu) rs751534793 0.00001
NM_021147.5(CCNO):c.724C>T (p.His242Tyr) rs1745584991 0.00001
NM_021147.5(CCNO):c.775C>T (p.Gln259Ter) rs1060503388 0.00001
NM_021147.5(CCNO):c.788G>C (p.Arg263Pro) rs746811253 0.00001
NM_021147.5(CCNO):c.808C>A (p.Leu270Met) rs748700550 0.00001
NM_021147.5(CCNO):c.866C>T (p.Ala289Val) rs773419820 0.00001
NM_021147.5(CCNO):c.949A>C (p.Met317Leu) rs780967882 0.00001
NM_021147.5(CCNO):c.989C>T (p.Ser330Phe) rs750696117 0.00001
NM_021147.5(CCNO):c.997C>T (p.His333Tyr) rs368310145 0.00001
NC_000005.9:g.(?_54527203)_(54529351_?)dup
NM_021147.5(CCNO):c.1017C>T (p.Ile339=)
NM_021147.5(CCNO):c.111C>T (p.Leu37=)
NM_021147.5(CCNO):c.132T>G (p.His44Gln)
NM_021147.5(CCNO):c.135C>T (p.Pro45=)
NM_021147.5(CCNO):c.153C>G (p.Leu51=)
NM_021147.5(CCNO):c.156G>T (p.Pro52=)
NM_021147.5(CCNO):c.160G>A (p.Asp54Asn) rs1745658924
NM_021147.5(CCNO):c.165del (p.Gly56fs) rs1561121987
NM_021147.5(CCNO):c.185A>G (p.Glu62Gly) rs1745657575
NM_021147.5(CCNO):c.18C>A (p.Pro6=)
NM_021147.5(CCNO):c.192del (p.Ser65fs)
NM_021147.5(CCNO):c.196T>C (p.Ser66Pro)
NM_021147.5(CCNO):c.26C>T (p.Pro9Leu)
NM_021147.5(CCNO):c.327C>A (p.Arg109=)
NM_021147.5(CCNO):c.327dup (p.Lys110fs)
NM_021147.5(CCNO):c.333G>T (p.Ala111=)
NM_021147.5(CCNO):c.342C>T (p.Ser114=) rs2111721591
NM_021147.5(CCNO):c.36C>A (p.Pro12=) rs777965356
NM_021147.5(CCNO):c.370C>T (p.Arg124Trp)
NM_021147.5(CCNO):c.377C>T (p.Pro126Leu) rs1554020059
NM_021147.5(CCNO):c.381+3G>A
NM_021147.5(CCNO):c.381+8G>A
NM_021147.5(CCNO):c.382-14C>A
NM_021147.5(CCNO):c.382-14C>T rs72749883
NM_021147.5(CCNO):c.382-15C>G
NM_021147.5(CCNO):c.382-19C>G rs334892
NM_021147.5(CCNO):c.382-1G>T rs1580411207
NM_021147.5(CCNO):c.382-4G>A rs2111718851
NM_021147.5(CCNO):c.382-8C>T
NM_021147.5(CCNO):c.398G>T (p.Arg133Leu) rs1554020012
NM_021147.5(CCNO):c.401G>A (p.Cys134Tyr)
NM_021147.5(CCNO):c.40G>T (p.Ala14Ser) rs1745666050
NM_021147.5(CCNO):c.423C>G (p.Ile141Met)
NM_021147.5(CCNO):c.425del (p.Pro142fs) rs752527657
NM_021147.5(CCNO):c.426G>T (p.Pro142=) rs1580411138
NM_021147.5(CCNO):c.427dup (p.Val143fs) rs1436895387
NM_021147.5(CCNO):c.435C>T (p.Arg145=) rs1554020005
NM_021147.5(CCNO):c.445C>A (p.Leu149Ile) rs1170297559
NM_021147.5(CCNO):c.445C>G (p.Leu149Val)
NM_021147.5(CCNO):c.453C>T (p.Phe151=)
NM_021147.5(CCNO):c.460C>T (p.Leu154=)
NM_021147.5(CCNO):c.462G>A (p.Leu154=)
NM_021147.5(CCNO):c.476del (p.Asn159fs)
NM_021147.5(CCNO):c.481_482del (p.Leu161fs) rs587777503
NM_021147.5(CCNO):c.482T>C (p.Leu161Pro) rs535119119
NM_021147.5(CCNO):c.482_483del (p.Leu161fs)
NM_021147.5(CCNO):c.488G>T (p.Arg163Leu)
NM_021147.5(CCNO):c.491T>C (p.Phe164Ser) rs755937476
NM_021147.5(CCNO):c.519C>G (p.Asp173Glu)
NM_021147.5(CCNO):c.525C>T (p.Phe175=) rs1580410902
NM_021147.5(CCNO):c.538dup (p.Val180fs) rs774393276
NM_021147.5(CCNO):c.548T>A (p.Leu183Ter)
NM_021147.5(CCNO):c.54_55delinsTT (p.Arg18_Arg19delinsSerTrp) rs1745665257
NM_021147.5(CCNO):c.563A>G (p.Lys188Arg) rs1554019966
NM_021147.5(CCNO):c.564_567+1delinsTCATCGCTTGCATCGCTTGCATCGCTTGCATCGC
NM_021147.5(CCNO):c.568-16del
NM_021147.5(CCNO):c.568-1G>A rs1312679513
NM_021147.5(CCNO):c.575T>G (p.Val192Gly)
NM_021147.5(CCNO):c.587G>T (p.Arg196Leu)
NM_021147.5(CCNO):c.630G>T (p.Arg210=)
NM_021147.5(CCNO):c.660G>T (p.Val220=)
NM_021147.5(CCNO):c.667_675dup (p.His225_Phe226insLysLeuHis)
NM_021147.5(CCNO):c.714_715delinsTG (p.Glu238_His239delinsAspAsp)
NM_021147.5(CCNO):c.746del (p.Gln249fs) rs1745583820
NM_021147.5(CCNO):c.773C>G (p.Ala258Gly)
NM_021147.5(CCNO):c.793del (p.Val265fs) rs769899297
NM_021147.5(CCNO):c.800A>G (p.Glu267Gly)
NM_021147.5(CCNO):c.820G>T (p.Ala274Ser) rs1745578274
NM_021147.5(CCNO):c.828C>T (p.Thr276=)
NM_021147.5(CCNO):c.837C>A (p.Ser279=) rs569924543
NM_021147.5(CCNO):c.846C>T (p.Leu282=)
NM_021147.5(CCNO):c.84G>A (p.Pro28=)
NM_021147.5(CCNO):c.851C>A (p.Ala284Glu)
NM_021147.5(CCNO):c.875_897del (p.Asp292fs) rs1176911729
NM_021147.5(CCNO):c.895C>T (p.Arg299Trp)
NM_021147.5(CCNO):c.906del (p.Leu303fs) rs2111713642
NM_021147.5(CCNO):c.926del (p.Pro309fs) rs587777500
NM_021147.5(CCNO):c.961C>T (p.Gln321Ter) rs587777501
NM_021147.5(CCNO):c.964del (p.Leu322fs) rs1745570250
NM_021147.5(CCNO):c.978A>G (p.Ile326Met) rs1554019818
NM_021147.5(CCNO):c.996T>C (p.Thr332=) rs1210789924
NM_021147.5(CCNO):c.9C>A (p.Thr3=)

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.