ClinVar Miner

List of variants in gene CEP250 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_007186.6(CEP250):c.4782G>A (p.Thr1594=) rs41290924 0.01074
NM_007186.6(CEP250):c.3967G>A (p.Ala1323Thr) rs114063154 0.01012
NM_007186.6(CEP250):c.5879G>A (p.Arg1960Gln) rs56259282 0.00743
NM_007186.6(CEP250):c.6016G>A (p.Asp2006Asn) rs61729988 0.00621
NM_007186.6(CEP250):c.2641G>A (p.Glu881Lys) rs140439099 0.00609
NM_007186.6(CEP250):c.5570G>A (p.Arg1857His) rs73903079 0.00442
NM_007186.6(CEP250):c.2391C>T (p.Val797=) rs111853969 0.00357
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.5963C>T (p.Ala1988Val) rs140286792 0.00006
NM_007186.6(CEP250):c.6556A>G (p.Ser2186Gly) rs753684828 0.00004
NM_007186.6(CEP250):c.3675C>T (p.Ser1225=) rs371562704 0.00003
NM_007186.6(CEP250):c.2039C>T (p.Ala680Val) rs1298763139 0.00001
NM_007186.6(CEP250):c.1710G>T (p.Leu570=)
NM_007186.6(CEP250):c.1935C>A (p.Val645=)
NM_007186.6(CEP250):c.3604G>A (p.Glu1202Lys)
NM_007186.6(CEP250):c.3605A>T (p.Glu1202Val)
NM_007186.6(CEP250):c.3787A>C (p.Arg1263=)
NM_007186.6(CEP250):c.936A>G (p.Thr312=) rs41290918

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