ClinVar Miner

List of variants in gene CCNO reported as uncertain significance for Primary ciliary dyskinesia

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Total variants: 58
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HGVS dbSNP gnomAD frequency
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.845T>C (p.Leu282Pro) rs753791521 0.00008
NM_021147.5(CCNO):c.688G>A (p.Ala230Thr) rs553351741 0.00005
NM_021147.5(CCNO):c.94A>C (p.Ser32Arg) rs373400250 0.00005
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.787C>T (p.Arg263Trp) rs771099683 0.00003
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.166G>A (p.Gly56Ser) rs1489774896 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.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.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.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.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.132T>G (p.His44Gln) rs1745660550
NM_021147.5(CCNO):c.160G>A (p.Asp54Asn) rs1745658924
NM_021147.5(CCNO):c.185A>G (p.Glu62Gly) rs1745657575
NM_021147.5(CCNO):c.196T>C (p.Ser66Pro) rs1488154964
NM_021147.5(CCNO):c.377C>T (p.Pro126Leu) rs1554020059
NM_021147.5(CCNO):c.381+8G>A rs757379260
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.445C>A (p.Leu149Ile) rs1170297559
NM_021147.5(CCNO):c.457T>C (p.Ser153Pro)
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.54_55delinsTT (p.Arg18_Arg19delinsSerTrp) rs1745665257
NM_021147.5(CCNO):c.568-1G>A rs1312679513
NM_021147.5(CCNO):c.575T>G (p.Val192Gly) rs998170955
NM_021147.5(CCNO):c.667_675dup (p.His225_Phe226insLysLeuHis) rs1745587128
NM_021147.5(CCNO):c.773C>G (p.Ala258Gly) rs368825448
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.851C>A (p.Ala284Glu) rs1000287085
NM_021147.5(CCNO):c.978A>G (p.Ile326Met) rs1554019818

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