ClinVar Miner

List of variants in gene CEP250 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_007186.6(CEP250):c.5974C>T (p.Arg1992Cys) rs41290926 0.00299
NM_007186.6(CEP250):c.1001C>T (p.Ala334Val) rs116166982 0.00169
NM_007186.6(CEP250):c.2775G>T (p.Lys925Asn) rs145916875 0.00081
NM_007186.6(CEP250):c.3207T>G (p.Leu1069=) rs61729981 0.00043
NM_007186.6(CEP250):c.7066-5A>G rs373195359 0.00030
NM_007186.6(CEP250):c.244-6G>A rs377361213 0.00029
NM_007186.6(CEP250):c.4674G>C (p.Leu1558=) rs149333362 0.00027
NM_007186.6(CEP250):c.3501C>T (p.Ala1167=) rs147057333 0.00022
NM_007186.6(CEP250):c.6637-9G>A rs145557638 0.00016
NM_007186.6(CEP250):c.5497G>A (p.Glu1833Lys) rs201724904 0.00009
NM_007186.6(CEP250):c.6114G>A (p.Gln2038=) rs756833778 0.00009
NM_007186.6(CEP250):c.5010C>G (p.Leu1670=) rs200762282 0.00007
NM_007186.6(CEP250):c.2597G>A (p.Arg866His) rs573133591 0.00006
NM_007186.6(CEP250):c.3307-10T>C rs775618192 0.00004
NM_007186.6(CEP250):c.3389C>T (p.Ala1130Val) rs376566049 0.00002
NM_007186.6(CEP250):c.1371G>A (p.Glu457=)
NM_007186.6(CEP250):c.1470A>C (p.Arg490=)
NM_007186.6(CEP250):c.1717-3del rs1470901100
NM_007186.6(CEP250):c.3033+4_3033+5insA
NM_007186.6(CEP250):c.3033+4_3033+5insAT
NM_007186.6(CEP250):c.3033+5C>T
NM_007186.6(CEP250):c.3033+6C>T
NM_007186.6(CEP250):c.3402G>A (p.Thr1134=) rs140984394
NM_007186.6(CEP250):c.3447A>C (p.Ala1149=)
NM_007186.6(CEP250):c.3526GCCCAG[2] (p.1176AQ[2]) rs561035032
NM_007186.6(CEP250):c.5697G>A (p.Gln1899=)
NM_007186.6(CEP250):c.5798C>T (p.Ala1933Val) rs116637219
NM_007186.6(CEP250):c.6189G>A (p.Lys2063=) rs760033053
NM_007186.6(CEP250):c.6975C>T (p.Ile2325=)
NM_007186.6(CEP250):c.7251C>A (p.Ser2417=)

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