ClinVar Miner

List of variants in gene CCDC39 reported as uncertain significance for Primary ciliary dyskinesia 14

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00329
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) rs147383873 0.00236
NM_181426.2(CCDC39):c.1363-3del rs551191744 0.00199
NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg) rs201157338 0.00145
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) rs61733577 0.00145
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) rs145506099 0.00127
NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly) rs200277460 0.00114
NM_181426.2(CCDC39):c.1665+5A>G rs560658609 0.00102
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857 0.00102
NM_181426.2(CCDC39):c.900T>A (p.His300Gln) rs201684898 0.00054
NM_181426.2(CCDC39):c.1818T>C (p.His606=) rs199503571 0.00046
NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys) rs200459402 0.00046
NM_181426.2(CCDC39):c.1137T>C (p.Asp379=) rs374132008 0.00035
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser) rs201586263 0.00033
NM_181426.2(CCDC39):c.83A>C (p.Glu28Ala) rs201794121 0.00025
NM_181426.2(CCDC39):c.68A>C (p.Glu23Ala) rs200225521 0.00021
NM_181426.2(CCDC39):c.547T>C (p.Leu183=) rs375301243 0.00017
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys) rs199526690 0.00015
NM_181426.2(CCDC39):c.1362+13T>C rs369141426 0.00013
NM_181426.2(CCDC39):c.396G>A (p.Leu132=) rs201923286 0.00013
NM_181426.2(CCDC39):c.1034+11A>G rs780737889 0.00011
NM_181426.2(CCDC39):c.210+4C>T rs182803063 0.00011
NM_181426.2(CCDC39):c.885G>A (p.Thr295=) rs775454434 0.00011
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) rs79353057 0.00010
NM_181426.2(CCDC39):c.641G>A (p.Arg214His) rs368553676 0.00010
NM_181426.2(CCDC39):c.1728C>T (p.His576=) rs376737530 0.00008
NM_181426.2(CCDC39):c.1176T>C (p.Asp392=) rs749497447 0.00007
NM_181426.2(CCDC39):c.1833G>A (p.Ala611=) rs371164022 0.00007
NM_181426.2(CCDC39):c.1387C>T (p.Arg463Trp) rs368870111 0.00005
NM_181426.2(CCDC39):c.670A>G (p.Ile224Val) rs544311014 0.00005
NM_181426.2(CCDC39):c.-80T>C rs886058200 0.00004
NM_181426.2(CCDC39):c.137G>A (p.Arg46His) rs376716008 0.00004
NM_181426.2(CCDC39):c.1665+3G>A rs763769524 0.00004
NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg) rs371143749 0.00004
NM_181426.2(CCDC39):c.42G>A (p.Gly14=) rs759103433 0.00004
NM_181426.2(CCDC39):c.1528-3C>T rs1319606277 0.00003
NM_181426.2(CCDC39):c.821G>A (p.Gly274Glu) rs752180569 0.00003
NM_181426.2(CCDC39):c.749G>A (p.Arg250Lys) rs545754427 0.00002
NM_181426.2(CCDC39):c.1102A>G (p.Met368Val) rs564446820 0.00001
NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=) rs376782159 0.00001
NM_181426.2(CCDC39):c.2101G>A (p.Val701Met) rs373567562 0.00001
NM_181426.2(CCDC39):c.425C>T (p.Ala142Val) rs1711721023 0.00001
NM_181426.2(CCDC39):c.531A>G (p.Gln177=) rs779897284 0.00001
NM_181426.2(CCDC39):c.551A>C (p.Glu184Ala) rs752974826 0.00001
NM_181426.2(CCDC39):c.863G>A (p.Arg288His) rs576805965 0.00001
NM_181426.2(CCDC39):c.899A>G (p.His300Arg) rs554681004 0.00001
NM_181426.2(CCDC39):c.1285T>C (p.Ser429Pro) rs1718118993
NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg) rs6769457
NM_181426.2(CCDC39):c.1362G>A (p.Gln454=) rs1718117154
NM_181426.2(CCDC39):c.2152C>T (p.Pro718Ser) rs1292113274
NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp) rs61733582
NM_181426.2(CCDC39):c.516+11A>T rs1436542350
NM_181426.2(CCDC39):c.640C>T (p.Arg214Cys) rs749794148
NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del) rs771715698
NM_181426.2(CCDC39):c.862C>T (p.Arg288Cys)

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