ClinVar Miner

List of variants in gene CCDC65 reported as uncertain significance for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_033124.5(CCDC65):c.680A>G (p.Gln227Arg) rs149640178 0.00058
NM_033124.5(CCDC65):c.1274T>G (p.Leu425Arg) rs150275571 0.00046
NM_033124.5(CCDC65):c.803T>C (p.Leu268Pro) rs150949692 0.00038
NM_033124.5(CCDC65):c.548T>C (p.Ile183Thr) rs151189508 0.00030
NM_033124.5(CCDC65):c.326C>T (p.Ala109Val) rs139828323 0.00029
NM_033124.5(CCDC65):c.72G>T (p.Lys24Asn) rs371084552 0.00029
NM_033124.5(CCDC65):c.881G>A (p.Arg294His) rs143876144 0.00023
NM_033124.5(CCDC65):c.1067T>C (p.Phe356Ser) rs748848510 0.00018
NM_033124.5(CCDC65):c.683A>T (p.Asp228Val) rs142550817 0.00014
NM_033124.5(CCDC65):c.980T>A (p.Leu327Gln) rs149740964 0.00014
NM_033124.5(CCDC65):c.482T>C (p.Ile161Thr) rs148688058 0.00012
NM_033124.5(CCDC65):c.1297C>T (p.Arg433Trp) rs138929942 0.00006
NM_033124.5(CCDC65):c.334C>A (p.Gln112Lys) rs750352672 0.00006
NM_033124.5(CCDC65):c.341C>T (p.Ala114Val) rs201888145 0.00006
NM_033124.5(CCDC65):c.1298G>T (p.Arg433Leu) rs766802543 0.00004
NM_033124.5(CCDC65):c.184A>G (p.Asn62Asp) rs118071072 0.00004
NM_033124.5(CCDC65):c.263T>C (p.Phe88Ser) rs148153593 0.00004
NM_033124.5(CCDC65):c.773T>C (p.Ile258Thr) rs199888057 0.00004
NM_033124.5(CCDC65):c.994A>G (p.Thr332Ala) rs145598728 0.00004
NM_033124.5(CCDC65):c.1286A>G (p.Asn429Ser) rs772183527 0.00003
NM_033124.5(CCDC65):c.325G>T (p.Ala109Ser) rs781302965 0.00003
NM_033124.5(CCDC65):c.1087G>T (p.Val363Leu) rs1262504273 0.00002
NM_033124.5(CCDC65):c.1280A>G (p.Asp427Gly) rs866658813 0.00002
NM_033124.5(CCDC65):c.710C>T (p.Thr237Ile) rs372541279 0.00002
NM_033124.5(CCDC65):c.808-20A>G rs767934029 0.00002
NM_033124.5(CCDC65):c.871C>T (p.Arg291Trp) rs1371441762 0.00002
NM_033124.5(CCDC65):c.1004C>T (p.Ala335Val) rs767578687 0.00001
NM_033124.5(CCDC65):c.1196T>C (p.Ile399Thr) rs890906368 0.00001
NM_033124.5(CCDC65):c.1268C>A (p.Ala423Asp) rs745767342 0.00001
NM_033124.5(CCDC65):c.135C>A (p.Asp45Glu) rs184028693 0.00001
NM_033124.5(CCDC65):c.209G>A (p.Arg70Gln) rs772291948 0.00001
NM_033124.5(CCDC65):c.214G>T (p.Val72Phe) rs1342625748 0.00001
NM_033124.5(CCDC65):c.242T>C (p.Ile81Thr) rs771367100 0.00001
NM_033124.5(CCDC65):c.328G>A (p.Glu110Lys) rs761689371 0.00001
NM_033124.5(CCDC65):c.470+3A>G rs200575863 0.00001
NM_033124.5(CCDC65):c.474G>C (p.Lys158Asn) rs761890305 0.00001
NM_033124.5(CCDC65):c.533T>C (p.Met178Thr) rs777553497 0.00001
NM_033124.5(CCDC65):c.56T>G (p.Leu19Arg) rs150129786 0.00001
NM_033124.5(CCDC65):c.609+5G>A rs370107530 0.00001
NM_033124.5(CCDC65):c.653G>A (p.Arg218Lys) rs760818856 0.00001
NM_033124.5(CCDC65):c.732T>A (p.Phe244Leu) rs776694186 0.00001
NM_033124.5(CCDC65):c.73T>A (p.Leu25Met) rs371110225 0.00001
NM_033124.5(CCDC65):c.771G>T (p.Glu257Asp) rs764695480 0.00001
NM_033124.5(CCDC65):c.850C>T (p.Arg284Cys) rs780401797 0.00001
NM_033124.5(CCDC65):c.875A>G (p.Tyr292Cys) rs1223874594 0.00001
NM_033124.5(CCDC65):c.930A>T (p.Gln310His) rs751598087 0.00001
NM_033124.5(CCDC65):c.93G>A (p.Met31Ile) rs1485636400 0.00001
NM_033124.5(CCDC65):c.*2dup (p.Ter485=) rs2137550413
NM_033124.5(CCDC65):c.1022A>G (p.Asp341Gly)
NM_033124.5(CCDC65):c.1075G>A (p.Glu359Lys)
NM_033124.5(CCDC65):c.1096T>C (p.Phe366Leu)
NM_033124.5(CCDC65):c.1155A>C (p.Glu385Asp)
NM_033124.5(CCDC65):c.1179G>A (p.Lys393=) rs2137549768
NM_033124.5(CCDC65):c.1204G>A (p.Glu402Lys) rs1008405856
NM_033124.5(CCDC65):c.1247T>C (p.Leu416Pro)
NM_033124.5(CCDC65):c.1337_1340del (p.Ser446fs) rs1939825876
NM_033124.5(CCDC65):c.1342G>A (p.Glu448Lys)
NM_033124.5(CCDC65):c.1370_1371del (p.Phe457fs) rs1060503167
NM_033124.5(CCDC65):c.1441C>T (p.His481Tyr) rs1452755503
NM_033124.5(CCDC65):c.144_164del (p.Lys49_Ala55del) rs1187237772
NM_033124.5(CCDC65):c.147GGA[1] (p.Glu51del) rs770163530
NM_033124.5(CCDC65):c.155A>C (p.His52Pro)
NM_033124.5(CCDC65):c.159C>G (p.Asn53Lys) rs533380794
NM_033124.5(CCDC65):c.208C>T (p.Arg70Trp)
NM_033124.5(CCDC65):c.260C>T (p.Thr87Ile)
NM_033124.5(CCDC65):c.293T>C (p.Val98Ala)
NM_033124.5(CCDC65):c.2T>A (p.Met1Lys) rs1939435183
NM_033124.5(CCDC65):c.300+5G>A rs1939451798
NM_033124.5(CCDC65):c.315C>A (p.Asp105Glu)
NM_033124.5(CCDC65):c.322G>A (p.Glu108Lys) rs763737404
NM_033124.5(CCDC65):c.340G>C (p.Ala114Pro)
NM_033124.5(CCDC65):c.347C>T (p.Ala116Val) rs563337831
NM_033124.5(CCDC65):c.352C>T (p.Arg118Cys)
NM_033124.5(CCDC65):c.356G>A (p.Ser119Asn) rs2088474089
NM_033124.5(CCDC65):c.399C>G (p.His133Gln)
NM_033124.5(CCDC65):c.400C>T (p.Arg134Trp)
NM_033124.5(CCDC65):c.401G>C (p.Arg134Pro)
NM_033124.5(CCDC65):c.535G>A (p.Glu179Lys) rs1939705595
NM_033124.5(CCDC65):c.55C>A (p.Leu19Ile)
NM_033124.5(CCDC65):c.586A>G (p.Met196Val) rs1213698808
NM_033124.5(CCDC65):c.609G>A (p.Met203Ile) rs1371178815
NM_033124.5(CCDC65):c.657AGA[1] (p.Glu220del) rs2137545852
NM_033124.5(CCDC65):c.719G>A (p.Arg240Gln)
NM_033124.5(CCDC65):c.807+5G>A rs1939741975
NM_033124.5(CCDC65):c.816A>G (p.Ile272Met) rs1448195838
NM_033124.5(CCDC65):c.823T>G (p.Ser275Ala) rs1952389157
NM_033124.5(CCDC65):c.835A>T (p.Ile279Phe)
NM_033124.5(CCDC65):c.844C>T (p.His282Tyr) rs1488626886
NM_033124.5(CCDC65):c.872G>A (p.Arg291Gln)
NM_033124.5(CCDC65):c.88G>A (p.Glu30Lys)
NM_033124.5(CCDC65):c.8A>G (p.Lys3Arg)
NM_033124.5(CCDC65):c.904G>A (p.Val302Ile)
NM_033124.5(CCDC65):c.913C>T (p.Arg305Ter)
NM_033124.5(CCDC65):c.944G>A (p.Arg315Gln)
NM_033124.5(CCDC65):c.957GAA[1] (p.Lys320del)

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