ClinVar Miner

List of variants in gene CEP250 reported as pathogenic

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_007186.6(CEP250):c.5959C>T (p.Gln1987Ter) rs200263031 0.00019
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094 0.00011
NM_007186.6(CEP250):c.1468C>T (p.Arg490Ter) rs776554898 0.00001
NM_007186.6(CEP250):c.304C>T (p.Arg102Ter) rs1266064055 0.00001
NM_007186.6(CEP250):c.3091C>T (p.Gln1031Ter) rs1243282597 0.00001
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) rs749314857 0.00001
NM_007186.6(CEP250):c.361C>T (p.Arg121Ter) rs1341298773 0.00001
NM_007186.6(CEP250):c.3799C>T (p.Gln1267Ter) rs200644575 0.00001
NM_007186.6(CEP250):c.562C>T (p.Arg188Ter) rs1369076411 0.00001
NM_007186.6(CEP250):c.5725C>T (p.Gln1909Ter) rs766398435 0.00001
NC_000020.10:g.(?_34050193)_(34099455_?)del
NM_007186.6(CEP250):c.1112T>A (p.Leu371Ter)
NM_007186.6(CEP250):c.1235del (p.Cys412fs) rs2146792205
NM_007186.6(CEP250):c.1652C>A (p.Ser551Ter) rs2146822389
NM_007186.6(CEP250):c.199C>T (p.Arg67Ter)
NM_007186.6(CEP250):c.2155C>T (p.Arg719Ter) rs1051944154
NM_007186.6(CEP250):c.2200del (p.Ala733_Leu734insTer)
NM_007186.6(CEP250):c.2206C>T (p.Arg736Ter)
NM_007186.6(CEP250):c.2383C>T (p.Gln795Ter) rs2063287444
NM_007186.6(CEP250):c.2388dup (p.Val797fs) rs1398367764
NM_007186.6(CEP250):c.2512del (p.Gln838fs)
NM_007186.6(CEP250):c.2564dup (p.Asn856fs)
NM_007186.6(CEP250):c.263G>A (p.Trp88Ter) rs2062862935
NM_007186.6(CEP250):c.2647del (p.Glu883fs)
NM_007186.6(CEP250):c.2654_2675del (p.Met885fs)
NM_007186.6(CEP250):c.2848C>T (p.Arg950Ter) rs1388902455
NM_007186.6(CEP250):c.2986del (p.Glu996fs) rs2147070761
NM_007186.6(CEP250):c.3133C>T (p.Arg1045Ter)
NM_007186.6(CEP250):c.3178_3179del (p.Ser1060fs)
NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter) rs1568820302
NM_007186.6(CEP250):c.337del (p.Ser112_Leu113insTer) rs2146707223
NM_007186.6(CEP250):c.3656-1G>A
NM_007186.6(CEP250):c.3773_3777del (p.Thr1258fs)
NM_007186.6(CEP250):c.3912G>A (p.Trp1304Ter)
NM_007186.6(CEP250):c.4027C>T (p.Arg1343Ter) rs774612231
NM_007186.6(CEP250):c.4272_4273delinsT (p.Leu1425fs) rs2064043746
NM_007186.6(CEP250):c.434G>A (p.Trp145Ter)
NM_007186.6(CEP250):c.4388_4389del (p.Leu1463fs) rs2064048389
NM_007186.6(CEP250):c.439del (p.Arg147fs)
NM_007186.6(CEP250):c.4447del (p.Glu1483fs)
NM_007186.6(CEP250):c.4489del (p.Gln1497fs)
NM_007186.6(CEP250):c.4495C>T (p.Arg1499Ter)
NM_007186.6(CEP250):c.4514_4515del (p.Val1505fs)
NM_007186.6(CEP250):c.4876C>T (p.Gln1626Ter)
NM_007186.6(CEP250):c.5050del (p.Asp1684fs) rs2064077764
NM_007186.6(CEP250):c.5105dup (p.Arg1703fs)
NM_007186.6(CEP250):c.5370del (p.Arg1791fs)
NM_007186.6(CEP250):c.5383dup (p.Glu1795fs) rs2064092893
NM_007186.6(CEP250):c.5500del (p.Glu1834fs) rs2147164893
NM_007186.6(CEP250):c.5596del (p.Glu1866fs)
NM_007186.6(CEP250):c.5969T>A (p.Leu1990Ter)
NM_007186.6(CEP250):c.6094C>T (p.Arg2032Ter)
NM_007186.6(CEP250):c.6160C>T (p.Gln2054Ter) rs2147174157
NM_007186.6(CEP250):c.6307_6308del (p.Leu2103fs)
NM_007186.6(CEP250):c.6406G>T (p.Glu2136Ter)
NM_007186.6(CEP250):c.6487_6488del (p.Glu2163fs) rs2147179056
NM_007186.6(CEP250):c.6592C>T (p.Gln2198Ter)
NM_007186.6(CEP250):c.6625C>T (p.Gln2209Ter)
NM_007186.6(CEP250):c.6826C>T (p.Gln2276Ter) rs2147208997
NM_007186.6(CEP250):c.6829C>T (p.Gln2277Ter)
NM_007186.6(CEP250):c.829G>T (p.Glu277Ter)
NM_007186.6(CEP250):c.94dup (p.Ala32fs) rs2146671573

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