ClinVar Miner

List of variants in gene CEP97 studied for not provided

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Gene type:
ClinVar version:
Total variants: 248
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HGVS dbSNP gnomAD frequency
NM_024548.4(CEP97):c.2538G>A (p.Gln846=) rs2625282 0.90199
NM_024548.4(CEP97):c.955G>C (p.Val319Leu) rs59720918 0.01320
NM_024548.4(CEP97):c.176G>A (p.Arg59Gln) rs111912421 0.00410
NM_024548.4(CEP97):c.2022C>T (p.Ser674=) rs75383743 0.00389
NM_024548.4(CEP97):c.1195C>T (p.Leu399Phe) rs145072852 0.00227
NM_024548.4(CEP97):c.840A>T (p.Leu280=) rs2926543 0.00213
NM_024548.4(CEP97):c.1308A>G (p.Ala436=) rs146247413 0.00093
NM_024548.4(CEP97):c.310C>T (p.Leu104=) rs145437722 0.00052
NM_024548.4(CEP97):c.1400T>A (p.Met467Lys) rs183786171 0.00030
NM_024548.4(CEP97):c.1222G>T (p.Val408Phe) rs138854860 0.00021
NM_024548.4(CEP97):c.2446G>A (p.Ala816Thr) rs552580673 0.00009
NC_000003.11:g.(?_101443521)_(101446405_?)dup
NM_024548.4(CEP97):c.1006T>C (p.Cys336Arg)
NM_024548.4(CEP97):c.1010A>C (p.Gln337Pro)
NM_024548.4(CEP97):c.1028-13T>C
NM_024548.4(CEP97):c.1031C>T (p.Pro344Leu)
NM_024548.4(CEP97):c.105del (p.Ala36fs)
NM_024548.4(CEP97):c.1066A>T (p.Ser356Cys)
NM_024548.4(CEP97):c.1073A>C (p.Asp358Ala)
NM_024548.4(CEP97):c.1079A>G (p.Gln360Arg)
NM_024548.4(CEP97):c.1088C>T (p.Ala363Val)
NM_024548.4(CEP97):c.1089G>A (p.Ala363=)
NM_024548.4(CEP97):c.1094A>G (p.Lys365Arg)
NM_024548.4(CEP97):c.1111T>C (p.Ser371Pro)
NM_024548.4(CEP97):c.1119C>T (p.His373=)
NM_024548.4(CEP97):c.1124C>T (p.Thr375Met)
NM_024548.4(CEP97):c.117C>G (p.His39Gln)
NM_024548.4(CEP97):c.1188T>C (p.Cys396=)
NM_024548.4(CEP97):c.1197C>T (p.Leu399=)
NM_024548.4(CEP97):c.1201T>G (p.Ser401Ala)
NM_024548.4(CEP97):c.1206G>A (p.Glu402=)
NM_024548.4(CEP97):c.1249C>T (p.Pro417Ser)
NM_024548.4(CEP97):c.1274G>T (p.Gly425Val)
NM_024548.4(CEP97):c.1282T>G (p.Leu428Val) rs77015203
NM_024548.4(CEP97):c.1292A>G (p.Glu431Gly)
NM_024548.4(CEP97):c.1310A>T (p.Asp437Val)
NM_024548.4(CEP97):c.1314A>C (p.Glu438Asp)
NM_024548.4(CEP97):c.1349A>T (p.Lys450Met)
NM_024548.4(CEP97):c.1381G>A (p.Glu461Lys)
NM_024548.4(CEP97):c.1400T>C (p.Met467Thr)
NM_024548.4(CEP97):c.1400T>G (p.Met467Arg)
NM_024548.4(CEP97):c.1403G>T (p.Arg468Ile)
NM_024548.4(CEP97):c.1443A>G (p.Leu481=)
NM_024548.4(CEP97):c.1451G>T (p.Cys484Phe)
NM_024548.4(CEP97):c.1458G>A (p.Glu486=)
NM_024548.4(CEP97):c.1463C>A (p.Thr488Lys)
NM_024548.4(CEP97):c.1473T>C (p.Ser491=)
NM_024548.4(CEP97):c.1476T>C (p.Ala492=)
NM_024548.4(CEP97):c.1477A>G (p.Ile493Val)
NM_024548.4(CEP97):c.1487A>T (p.Asp496Val)
NM_024548.4(CEP97):c.1492A>C (p.Asn498His)
NM_024548.4(CEP97):c.1502T>C (p.Leu501Pro)
NM_024548.4(CEP97):c.1503_1504dup (p.Thr502fs)
NM_024548.4(CEP97):c.1532A>C (p.Lys511Thr)
NM_024548.4(CEP97):c.1554A>G (p.Pro518=)
NM_024548.4(CEP97):c.1583_1585dup (p.Thr528_Ile529insThr)
NM_024548.4(CEP97):c.1584C>A (p.Thr528=)
NM_024548.4(CEP97):c.1584C>G (p.Thr528=)
NM_024548.4(CEP97):c.1586T>C (p.Ile529Thr)
NM_024548.4(CEP97):c.1590T>G (p.Ser530=)
NM_024548.4(CEP97):c.1597A>G (p.Thr533Ala)
NM_024548.4(CEP97):c.1604A>G (p.Glu535Gly)
NM_024548.4(CEP97):c.1608A>C (p.Lys536Asn)
NM_024548.4(CEP97):c.1615A>G (p.Met539Val)
NM_024548.4(CEP97):c.1625C>T (p.Thr542Ile)
NM_024548.4(CEP97):c.1626C>T (p.Thr542=)
NM_024548.4(CEP97):c.1630A>G (p.Arg544Gly)
NM_024548.4(CEP97):c.1652A>T (p.Asp551Val)
NM_024548.4(CEP97):c.1674A>G (p.Leu558=)
NM_024548.4(CEP97):c.1688C>A (p.Thr563Asn)
NM_024548.4(CEP97):c.1718A>G (p.Tyr573Cys)
NM_024548.4(CEP97):c.1727A>G (p.Asn576Ser)
NM_024548.4(CEP97):c.174A>T (p.Lys58Asn)
NM_024548.4(CEP97):c.1753C>T (p.Arg585Cys)
NM_024548.4(CEP97):c.1758C>T (p.Tyr586=)
NM_024548.4(CEP97):c.1764C>A (p.Ile588=)
NM_024548.4(CEP97):c.1771C>T (p.Arg591Cys)
NM_024548.4(CEP97):c.1772G>A (p.Arg591His)
NM_024548.4(CEP97):c.1778T>C (p.Met593Thr)
NM_024548.4(CEP97):c.1787A>G (p.His596Arg)
NM_024548.4(CEP97):c.1812_1814del (p.Ile604_Arg605delinsMet)
NM_024548.4(CEP97):c.1817+13T>A
NM_024548.4(CEP97):c.1817+5G>A
NM_024548.4(CEP97):c.1818-15T>G
NM_024548.4(CEP97):c.1824A>G (p.Arg608=)
NM_024548.4(CEP97):c.1829A>G (p.Glu610Gly)
NM_024548.4(CEP97):c.1843C>T (p.Arg615Cys)
NM_024548.4(CEP97):c.1844G>A (p.Arg615His)
NM_024548.4(CEP97):c.1844G>C (p.Arg615Pro)
NM_024548.4(CEP97):c.186+3A>T
NM_024548.4(CEP97):c.1860A>G (p.Val620=)
NM_024548.4(CEP97):c.187-17_187-16del rs3070526
NM_024548.4(CEP97):c.187-20_187-19insTTT
NM_024548.4(CEP97):c.187-2A>T
NM_024548.4(CEP97):c.187-5T>C
NM_024548.4(CEP97):c.187-9T>C
NM_024548.4(CEP97):c.1871C>G (p.Ala624Gly)
NM_024548.4(CEP97):c.187T>C (p.Leu63=)
NM_024548.4(CEP97):c.1894-1G>C
NM_024548.4(CEP97):c.1899G>T (p.Arg633Ser)
NM_024548.4(CEP97):c.1922C>G (p.Thr641Arg)
NM_024548.4(CEP97):c.1923A>C (p.Thr641=)
NM_024548.4(CEP97):c.1928A>G (p.Asp643Gly)
NM_024548.4(CEP97):c.1941T>G (p.Ser647Arg)
NM_024548.4(CEP97):c.1973G>A (p.Ser658Asn)
NM_024548.4(CEP97):c.1973G>C (p.Ser658Thr) rs186791868
NM_024548.4(CEP97):c.1988C>T (p.Ser663Leu)
NM_024548.4(CEP97):c.1994A>G (p.His665Arg)
NM_024548.4(CEP97):c.2016G>A (p.Gln672=)
NM_024548.4(CEP97):c.2017G>T (p.Glu673Ter)
NM_024548.4(CEP97):c.2041G>T (p.Asp681Tyr)
NM_024548.4(CEP97):c.2046G>C (p.Trp682Cys)
NM_024548.4(CEP97):c.2060A>T (p.Asp687Val)
NM_024548.4(CEP97):c.2076G>T (p.Glu692Asp)
NM_024548.4(CEP97):c.2083_2084insC (p.Leu695fs)
NM_024548.4(CEP97):c.2087C>T (p.Pro696Leu)
NM_024548.4(CEP97):c.2099A>G (p.Asp700Gly)
NM_024548.4(CEP97):c.2102C>T (p.Ser701Phe)
NM_024548.4(CEP97):c.2110C>T (p.His704Tyr)
NM_024548.4(CEP97):c.2111A>C (p.His704Pro)
NM_024548.4(CEP97):c.2111A>G (p.His704Arg)
NM_024548.4(CEP97):c.2141T>C (p.Leu714Ser)
NM_024548.4(CEP97):c.2147A>G (p.His716Arg)
NM_024548.4(CEP97):c.214C>T (p.Arg72Trp)
NM_024548.4(CEP97):c.2153del (p.Leu718fs)
NM_024548.4(CEP97):c.2168del (p.Ser723fs)
NM_024548.4(CEP97):c.2200G>A (p.Gly734Arg)
NM_024548.4(CEP97):c.2206del (p.Ser736fs)
NM_024548.4(CEP97):c.220A>G (p.Met74Val)
NM_024548.4(CEP97):c.2216C>A (p.Thr739Lys)
NM_024548.4(CEP97):c.2216C>T (p.Thr739Ile)
NM_024548.4(CEP97):c.2222G>T (p.Arg741Ile)
NM_024548.4(CEP97):c.2264A>C (p.His755Pro)
NM_024548.4(CEP97):c.2265T>C (p.His755=)
NM_024548.4(CEP97):c.2284A>G (p.Ser762Gly)
NM_024548.4(CEP97):c.2295C>T (p.Asn765=)
NM_024548.4(CEP97):c.2306A>G (p.Asn769Ser)
NM_024548.4(CEP97):c.230C>T (p.Ala77Val)
NM_024548.4(CEP97):c.2311C>T (p.Leu771=)
NM_024548.4(CEP97):c.2324A>T (p.Tyr775Phe)
NM_024548.4(CEP97):c.2363G>A (p.Arg788Lys)
NM_024548.4(CEP97):c.2392A>G (p.Ser798Gly)
NM_024548.4(CEP97):c.2392A>T (p.Ser798Cys)
NM_024548.4(CEP97):c.239C>T (p.Thr80Met)
NM_024548.4(CEP97):c.2405T>C (p.Ile802Thr)
NM_024548.4(CEP97):c.240G>A (p.Thr80=)
NM_024548.4(CEP97):c.2420T>C (p.Val807Ala)
NM_024548.4(CEP97):c.2424G>A (p.Gln808=)
NM_024548.4(CEP97):c.2438C>G (p.Ser813Cys)
NM_024548.4(CEP97):c.2441A>G (p.Asp814Gly)
NM_024548.4(CEP97):c.2442C>A (p.Asp814Glu)
NM_024548.4(CEP97):c.2442C>T (p.Asp814=)
NM_024548.4(CEP97):c.2443G>A (p.Gly815Ser)
NM_024548.4(CEP97):c.2473T>G (p.Ser825Ala)
NM_024548.4(CEP97):c.2481T>C (p.Pro827=)
NM_024548.4(CEP97):c.2489G>A (p.Gly830Asp)
NM_024548.4(CEP97):c.248G>A (p.Arg83His)
NM_024548.4(CEP97):c.249T>C (p.Arg83=)
NM_024548.4(CEP97):c.2533G>T (p.Val845Phe)
NM_024548.4(CEP97):c.2554T>C (p.Cys852Arg)
NM_024548.4(CEP97):c.2557G>A (p.Asp853Asn)
NM_024548.4(CEP97):c.2566T>C (p.Phe856Leu)
NM_024548.4(CEP97):c.256A>C (p.Asn86His)
NM_024548.4(CEP97):c.2579A>G (p.His860Arg)
NM_024548.4(CEP97):c.263C>T (p.Pro88Leu)
NM_024548.4(CEP97):c.265C>T (p.His89Tyr)
NM_024548.4(CEP97):c.307C>T (p.His103Tyr)
NM_024548.4(CEP97):c.328G>A (p.Ala110Thr)
NM_024548.4(CEP97):c.365G>A (p.Ser122Asn)
NM_024548.4(CEP97):c.366C>T (p.Ser122=)
NM_024548.4(CEP97):c.387C>T (p.Leu129=)
NM_024548.4(CEP97):c.393A>G (p.Leu131=)
NM_024548.4(CEP97):c.419G>A (p.Gly140Asp)
NM_024548.4(CEP97):c.44-13G>A
NM_024548.4(CEP97):c.447+12T>C
NM_024548.4(CEP97):c.447+14C>T
NM_024548.4(CEP97):c.447+14_447+17del
NM_024548.4(CEP97):c.447+4_447+7del
NM_024548.4(CEP97):c.447+8T>C
NM_024548.4(CEP97):c.447+9G>T
NM_024548.4(CEP97):c.471C>T (p.Ile157=)
NM_024548.4(CEP97):c.477C>T (p.Thr159=)
NM_024548.4(CEP97):c.481C>T (p.Leu161Phe)
NM_024548.4(CEP97):c.492A>G (p.Ala164=)
NM_024548.4(CEP97):c.493C>T (p.Pro165Ser)
NM_024548.4(CEP97):c.511A>G (p.Ser171Gly)
NM_024548.4(CEP97):c.520A>G (p.Ile174Val)
NM_024548.4(CEP97):c.520del (p.Ile174fs)
NM_024548.4(CEP97):c.523C>A (p.Leu175Ile)
NM_024548.4(CEP97):c.525T>G (p.Leu175=)
NM_024548.4(CEP97):c.530T>A (p.Leu177Ter)
NM_024548.4(CEP97):c.532G>A (p.Ala178Thr)
NM_024548.4(CEP97):c.534A>C (p.Ala178=)
NM_024548.4(CEP97):c.550G>A (p.Asp184Asn)
NM_024548.4(CEP97):c.561+13G>T
NM_024548.4(CEP97):c.561+17T>C
NM_024548.4(CEP97):c.567T>G (p.Ser189=)
NM_024548.4(CEP97):c.588A>G (p.Glu196=)
NM_024548.4(CEP97):c.59G>T (p.Trp20Leu)
NM_024548.4(CEP97):c.602C>T (p.Ser201Leu)
NM_024548.4(CEP97):c.603G>A (p.Ser201=)
NM_024548.4(CEP97):c.603G>C (p.Ser201=) rs368081844
NM_024548.4(CEP97):c.641T>C (p.Ile214Thr)
NM_024548.4(CEP97):c.656A>G (p.Tyr219Cys)
NM_024548.4(CEP97):c.660G>A (p.Arg220=)
NM_024548.4(CEP97):c.663G>A (p.Pro221=)
NM_024548.4(CEP97):c.663G>T (p.Pro221=)
NM_024548.4(CEP97):c.669C>T (p.Ile223=)
NM_024548.4(CEP97):c.670G>A (p.Val224Ile)
NM_024548.4(CEP97):c.674G>T (p.Ser225Ile)
NM_024548.4(CEP97):c.687C>T (p.Asn229=)
NM_024548.4(CEP97):c.690C>G (p.Leu230=)
NM_024548.4(CEP97):c.690C>T (p.Leu230=)
NM_024548.4(CEP97):c.694G>A (p.Val232Ile)
NM_024548.4(CEP97):c.704G>C (p.Gly235Ala)
NM_024548.4(CEP97):c.712del (p.Ile238fs)
NM_024548.4(CEP97):c.713T>C (p.Ile238Thr)
NM_024548.4(CEP97):c.726A>G (p.Glu242=)
NM_024548.4(CEP97):c.728+17T>C
NM_024548.4(CEP97):c.728+7_728+8del
NM_024548.4(CEP97):c.729-11C>A
NM_024548.4(CEP97):c.729-17A>G
NM_024548.4(CEP97):c.75A>G (p.Leu25=)
NM_024548.4(CEP97):c.775C>T (p.Arg259Trp)
NM_024548.4(CEP97):c.776G>A (p.Arg259Gln)
NM_024548.4(CEP97):c.777G>A (p.Arg259=)
NM_024548.4(CEP97):c.780T>A (p.Pro260=)
NM_024548.4(CEP97):c.787C>A (p.His263Asn)
NM_024548.4(CEP97):c.799G>T (p.Val267Phe)
NM_024548.4(CEP97):c.804A>G (p.Gln268=)
NM_024548.4(CEP97):c.809T>C (p.Leu270Pro)
NM_024548.4(CEP97):c.811G>A (p.Ala271Thr)
NM_024548.4(CEP97):c.829A>T (p.Thr277Ser)
NM_024548.4(CEP97):c.839T>C (p.Leu280Pro)
NM_024548.4(CEP97):c.853G>A (p.Ala285Thr)
NM_024548.4(CEP97):c.855A>C (p.Ala285=)
NM_024548.4(CEP97):c.884G>A (p.Ser295Asn)
NM_024548.4(CEP97):c.88C>A (p.Pro30Thr)
NM_024548.4(CEP97):c.893+7C>G
NM_024548.4(CEP97):c.893+7C>T
NM_024548.4(CEP97):c.894-11T>A
NM_024548.4(CEP97):c.894-17G>A
NM_024548.4(CEP97):c.898C>T (p.His300Tyr)
NM_024548.4(CEP97):c.909G>A (p.Gln303=)
NM_024548.4(CEP97):c.915G>A (p.Met305Ile)
NM_024548.4(CEP97):c.926A>G (p.Gln309Arg)
NM_024548.4(CEP97):c.937T>C (p.Leu313=)
NM_024548.4(CEP97):c.964A>G (p.Arg322Gly)

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