ClinVar Miner

List of variants in gene combination CCDC39, TTC14 reported as likely benign for Primary ciliary dyskinesia

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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr) rs139560004 0.00177
NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn) rs199649763 0.00044
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys) rs201097154 0.00027
NM_181426.2(CCDC39):c.2266-5T>C rs200409307 0.00017
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His) rs147183244 0.00011
NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala) rs201963508 0.00009
NM_181426.2(CCDC39):c.2736G>A (p.Pro912=) rs183889161 0.00008
NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser) rs201996796 0.00007
NM_181426.2(CCDC39):c.2580T>C (p.Phe860=) rs779797487 0.00007
NM_181426.2(CCDC39):c.2343T>C (p.Tyr781=) rs781474629 0.00005
NM_181426.2(CCDC39):c.2587-12A>C rs1306437580 0.00003
NM_181426.2(CCDC39):c.2670-13G>T rs551513036 0.00003
NM_181426.2(CCDC39):c.2325A>G (p.Leu775=) rs748476314 0.00002
NM_181426.2(CCDC39):c.2346A>G (p.Ser782=) rs1196118420 0.00002
NM_181426.2(CCDC39):c.2407-20T>C rs776677497 0.00002
NM_181426.2(CCDC39):c.2532T>C (p.Asp844=) rs756870084 0.00002
NM_181426.2(CCDC39):c.2565C>A (p.Ile855=) rs780932724 0.00002
NM_181426.2(CCDC39):c.2669+19A>G rs1366482401 0.00002
NM_181426.2(CCDC39):c.2669+7G>A rs201606383 0.00002
NM_181426.2(CCDC39):c.2280A>G (p.Thr760=) rs886038749 0.00001
NM_181426.2(CCDC39):c.2349T>C (p.Phe783=) rs747568407 0.00001
NM_181426.2(CCDC39):c.2353C>T (p.Leu785=) rs190655280 0.00001
NM_181426.2(CCDC39):c.2367G>A (p.Thr789=) rs201806641 0.00001
NM_181426.2(CCDC39):c.2406+7A>G rs1338617976 0.00001
NM_181426.2(CCDC39):c.2454T>C (p.Asp818=) rs752482127 0.00001
NM_181426.2(CCDC39):c.2550T>G (p.Thr850=) rs771478702 0.00001
NM_181426.2(CCDC39):c.2586+13C>A rs550990897 0.00001
NM_181426.2(CCDC39):c.2586+7C>A rs753859178 0.00001
NM_181426.2(CCDC39):c.2613C>T (p.Ser871=) rs960222324 0.00001
NM_181426.2(CCDC39):c.2664A>G (p.Ser888=) rs1307619593 0.00001
NM_181426.2(CCDC39):c.2669+10G>C rs1163251409 0.00001
NM_181426.2(CCDC39):c.2669+11G>C rs751853252 0.00001
NM_181426.2(CCDC39):c.2670-17T>G rs571692210 0.00001
NM_181426.2(CCDC39):c.2784T>C (p.Ser928=) rs771010943 0.00001
NM_181426.2(CCDC39):c.2817C>T (p.Ser939=) rs200947486 0.00001
NM_181426.2(CCDC39):c.2823A>G (p.Lys941=) rs751844801 0.00001
NM_181426.2(CCDC39):c.2266-13A>G rs2473778243
NM_181426.2(CCDC39):c.2266-16A>G rs2473778247
NM_181426.2(CCDC39):c.2286T>C (p.Asp762=) rs1717270266
NM_181426.2(CCDC39):c.2295A>G (p.Glu765=) rs2473778079
NM_181426.2(CCDC39):c.2323T>C (p.Leu775=) rs769919542
NM_181426.2(CCDC39):c.2376G>A (p.Gln792=) rs2473777887
NM_181426.2(CCDC39):c.2400C>G (p.Thr800=) rs2108404469
NM_181426.2(CCDC39):c.2403A>G (p.Lys801=) rs2473777844
NM_181426.2(CCDC39):c.2406+11C>A rs2473777800
NM_181426.2(CCDC39):c.2406+9A>C rs144491691
NM_181426.2(CCDC39):c.2406+9_2406+10del rs752498957
NM_181426.2(CCDC39):c.2407-20T>A rs776677497
NM_181426.2(CCDC39):c.2407-6C>T rs2473777527
NM_181426.2(CCDC39):c.2407-7C>T rs1182199057
NM_181426.2(CCDC39):c.2407-8A>T rs769021943
NM_181426.2(CCDC39):c.2407-9T>C rs878855282
NM_181426.2(CCDC39):c.2418C>T (p.Leu806=) rs778467466
NM_181426.2(CCDC39):c.2448A>G (p.Thr816=) rs2473777445
NM_181426.2(CCDC39):c.2460A>C (p.Thr820=) rs1717255332
NM_181426.2(CCDC39):c.2469A>G (p.Glu823=) rs2473777397
NM_181426.2(CCDC39):c.2505C>T (p.His835=)
NM_181426.2(CCDC39):c.2517T>C (p.Asp839=) rs761750422
NM_181426.2(CCDC39):c.2526A>G (p.Leu842=) rs1717252361
NM_181426.2(CCDC39):c.2550T>C (p.Thr850=)
NM_181426.2(CCDC39):c.2553G>A (p.Glu851=) rs371713454
NM_181426.2(CCDC39):c.2574A>G (p.Thr858=) rs2473777113
NM_181426.2(CCDC39):c.2586+11A>G rs1717248467
NM_181426.2(CCDC39):c.2586+12C>A rs938853102
NM_181426.2(CCDC39):c.2586+15_2586+17del rs753826573
NM_181426.2(CCDC39):c.2586+20T>C rs2473777043
NM_181426.2(CCDC39):c.2587-17A>G rs1717242491
NM_181426.2(CCDC39):c.2587-20_2587-19delinsAG rs2108404051
NM_181426.2(CCDC39):c.2587-4C>T rs1576929567
NM_181426.2(CCDC39):c.2604T>C (p.Pro868=) rs1372606259
NM_181426.2(CCDC39):c.2625T>C (p.Ser875=) rs1348545274
NM_181426.2(CCDC39):c.2646T>G (p.Pro882=) rs2473776748
NM_181426.2(CCDC39):c.2649A>C (p.Ser883=) rs2473776747
NM_181426.2(CCDC39):c.2669+11G>A rs751853252
NM_181426.2(CCDC39):c.2669+12G>A
NM_181426.2(CCDC39):c.2669+12del rs2473776663
NM_181426.2(CCDC39):c.2669+20A>G rs1717234902
NM_181426.2(CCDC39):c.2669+7G>T
NM_181426.2(CCDC39):c.2697T>C (p.Thr899=) rs2473773634
NM_181426.2(CCDC39):c.2715A>G (p.Lys905=) rs886058198
NM_181426.2(CCDC39):c.2724G>A (p.Glu908=)
NM_181426.2(CCDC39):c.2749C>T (p.Leu917=) rs2473773454
NM_181426.2(CCDC39):c.2760C>T (p.Ser920=)
NM_181426.2(CCDC39):c.2790C>T (p.Ser930=) rs2473773353
NM_181426.2(CCDC39):c.2799T>C (p.Asn933=) rs1242290618
NM_181426.2(CCDC39):c.2814G>A (p.Lys938=) rs2473773262

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