ClinVar Miner

List of variants in gene CCNO studied for Primary ciliary dyskinesia

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Gene type:
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Total variants: 153
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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.1002G>C (p.Met334Ile) rs149215991 0.00056
NM_021147.5(CCNO):c.685G>A (p.Gly229Ser) rs139980939 0.00052
NM_021147.5(CCNO):c.187T>C (p.Ser63Pro) rs377241996 0.00046
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.206A>G (p.Asp69Gly) rs372247606 0.00008
NM_021147.5(CCNO):c.845T>C (p.Leu282Pro) rs753791521 0.00008
NM_021147.5(CCNO):c.210C>T (p.Gly70=) rs373209105 0.00007
NM_021147.5(CCNO):c.333G>A (p.Ala111=) rs191035273 0.00007
NM_021147.5(CCNO):c.638T>C (p.Leu213Pro) rs775051461 0.00005
NM_021147.5(CCNO):c.688G>A (p.Ala230Thr) rs553351741 0.00005
NM_021147.5(CCNO):c.723G>A (p.Thr241=) rs777719468 0.00005
NM_021147.5(CCNO):c.887G>A (p.Arg296Gln) rs761492748 0.00005
NM_021147.5(CCNO):c.94A>C (p.Ser32Arg) rs373400250 0.00005
NM_021147.5(CCNO):c.579C>T (p.His193=) rs552011098 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.16C>A (p.Pro6Thr) rs1299342018 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.837C>A (p.Ser279=) rs569924543 0.00003
NM_021147.5(CCNO):c.999C>T (p.His333=) rs143418535 0.00003
NM_021147.5(CCNO):c.462G>A (p.Leu154=) rs778310459 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.1012C>G (p.Gln338Glu) rs770421646 0.00001
NM_021147.5(CCNO):c.1017C>T (p.Ile339=) rs200969817 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.26C>T (p.Pro9Leu) rs776702978 0.00001
NM_021147.5(CCNO):c.30G>A (p.Ser10=) rs771067579 0.00001
NM_021147.5(CCNO):c.370C>T (p.Arg124Trp) rs1017115994 0.00001
NM_021147.5(CCNO):c.371G>T (p.Arg124Leu) rs750998590 0.00001
NM_021147.5(CCNO):c.381+3G>A rs577008396 0.00001
NM_021147.5(CCNO):c.445C>G (p.Leu149Val) rs1170297559 0.00001
NM_021147.5(CCNO):c.463T>A (p.Cys155Ser) rs758456393 0.00001
NM_021147.5(CCNO):c.482T>C (p.Leu161Pro) rs535119119 0.00001
NM_021147.5(CCNO):c.519C>G (p.Asp173Glu) rs1454235214 0.00001
NM_021147.5(CCNO):c.567+9G>A rs926256890 0.00001
NM_021147.5(CCNO):c.587G>T (p.Arg196Leu) rs756994700 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.84G>A (p.Pro28=) rs755568469 0.00001
NM_021147.5(CCNO):c.866C>T (p.Ala289Val) rs773419820 0.00001
NM_021147.5(CCNO):c.945C>G (p.Asp315Glu) rs1240396964 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.111C>T (p.Leu37=) rs1745661763
NM_021147.5(CCNO):c.120G>A (p.Lys40=)
NM_021147.5(CCNO):c.132T>G (p.His44Gln) rs1745660550
NM_021147.5(CCNO):c.135C>T (p.Pro45=) rs2478555919
NM_021147.5(CCNO):c.153C>G (p.Leu51=) rs2478555755
NM_021147.5(CCNO):c.156G>T (p.Pro52=) rs1359521554
NM_021147.5(CCNO):c.160G>A (p.Asp54Asn) rs1745658924
NM_021147.5(CCNO):c.165C>T (p.Ser55=)
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=) rs1372192055
NM_021147.5(CCNO):c.192del (p.Ser65fs) rs752106293
NM_021147.5(CCNO):c.196T>C (p.Ser66Pro) rs1488154964
NM_021147.5(CCNO):c.198C>T (p.Ser66=)
NM_021147.5(CCNO):c.203C>A (p.Ser68Ter)
NM_021147.5(CCNO):c.219C>T (p.Ser73=)
NM_021147.5(CCNO):c.315C>T (p.Cys105=)
NM_021147.5(CCNO):c.327C>A (p.Arg109=) rs1358874292
NM_021147.5(CCNO):c.327dup (p.Lys110fs) rs1745647423
NM_021147.5(CCNO):c.333G>T (p.Ala111=) rs191035273
NM_021147.5(CCNO):c.336G>A (p.Gln112=)
NM_021147.5(CCNO):c.342C>T (p.Ser114=) rs2111721591
NM_021147.5(CCNO):c.351C>T (p.His117=)
NM_021147.5(CCNO):c.36C>A (p.Pro12=) rs777965356
NM_021147.5(CCNO):c.377C>T (p.Pro126Leu) rs1554020059
NM_021147.5(CCNO):c.381+8G>A rs757379260
NM_021147.5(CCNO):c.382-12C>G
NM_021147.5(CCNO):c.382-14C>A rs72749883
NM_021147.5(CCNO):c.382-14C>T rs72749883
NM_021147.5(CCNO):c.382-15C>G rs368489305
NM_021147.5(CCNO):c.382-17C>T
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.382-5G>T
NM_021147.5(CCNO):c.382-8C>T rs1488166018
NM_021147.5(CCNO):c.398G>T (p.Arg133Leu) rs1554020012
NM_021147.5(CCNO):c.401G>A (p.Cys134Tyr) rs2478549509
NM_021147.5(CCNO):c.40G>T (p.Ala14Ser) rs1745666050
NM_021147.5(CCNO):c.423C>G (p.Ile141Met) rs1472120280
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.444C>T (p.Gly148=)
NM_021147.5(CCNO):c.445C>A (p.Leu149Ile) rs1170297559
NM_021147.5(CCNO):c.453C>T (p.Phe151=) rs1197167668
NM_021147.5(CCNO):c.457T>C (p.Ser153Pro)
NM_021147.5(CCNO):c.460C>T (p.Leu154=) rs2478548531
NM_021147.5(CCNO):c.471G>T (p.Thr157=)
NM_021147.5(CCNO):c.476del (p.Asn159fs) rs2478548428
NM_021147.5(CCNO):c.481_482del (p.Leu161fs) rs587777503
NM_021147.5(CCNO):c.482_483del (p.Leu161fs) rs2478548362
NM_021147.5(CCNO):c.488G>T (p.Arg163Leu) rs766335987
NM_021147.5(CCNO):c.491T>C (p.Phe164Ser) rs755937476
NM_021147.5(CCNO):c.525C>T (p.Phe175=) rs1580410902
NM_021147.5(CCNO):c.528G>A (p.Gln176=)
NM_021147.5(CCNO):c.538dup (p.Val180fs) rs774393276
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.568-16del rs1438711868
NM_021147.5(CCNO):c.568-1G>A rs1312679513
NM_021147.5(CCNO):c.568-4G>C
NM_021147.5(CCNO):c.568-9G>T
NM_021147.5(CCNO):c.575T>G (p.Val192Gly) rs998170955
NM_021147.5(CCNO):c.630G>T (p.Arg210=) rs2478544655
NM_021147.5(CCNO):c.660G>T (p.Val220=) rs2478544487
NM_021147.5(CCNO):c.663G>A (p.Leu221=)
NM_021147.5(CCNO):c.667_675dup (p.His225_Phe226insLysLeuHis) rs1745587128
NM_021147.5(CCNO):c.66C>T (p.Asp22=)
NM_021147.5(CCNO):c.693C>T (p.Pro231=)
NM_021147.5(CCNO):c.705C>T (p.Phe235=)
NM_021147.5(CCNO):c.746del (p.Gln249fs) rs1745583820
NM_021147.5(CCNO):c.773C>G (p.Ala258Gly) rs368825448
NM_021147.5(CCNO):c.789G>A (p.Arg263=)
NM_021147.5(CCNO):c.793del (p.Val265fs) rs769899297
NM_021147.5(CCNO):c.800A>G (p.Glu267Gly) rs2478543119
NM_021147.5(CCNO):c.820G>T (p.Ala274Ser) rs1745578274
NM_021147.5(CCNO):c.828C>T (p.Thr276=) rs940635330
NM_021147.5(CCNO):c.831C>T (p.Ser277=)
NM_021147.5(CCNO):c.846C>T (p.Leu282=) rs2478542703
NM_021147.5(CCNO):c.851C>A (p.Ala284Glu) rs1000287085
NM_021147.5(CCNO):c.875_897del (p.Asp292fs) rs1176911729
NM_021147.5(CCNO):c.895C>T (p.Arg299Trp) rs538637609
NM_021147.5(CCNO):c.93G>A (p.Lys31=)
NM_021147.5(CCNO):c.961C>T (p.Gln321Ter) rs587777501
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=) rs1008454531

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