ClinVar Miner

List of variants in gene CEP55 studied for Inborn genetic diseases

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_018131.5(CEP55):c.1277C>G (p.Pro426Arg) rs200014799 0.00024
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter) rs141458677 0.00019
NM_018131.5(CEP55):c.1109G>A (p.Arg370His)
NM_018131.5(CEP55):c.1154G>A (p.Arg385Gln)
NM_018131.5(CEP55):c.1191+2T>C rs1002854345
NM_018131.5(CEP55):c.1256G>A (p.Arg419Lys)
NM_018131.5(CEP55):c.1270G>A (p.Ala424Thr)
NM_018131.5(CEP55):c.1301A>G (p.Asn434Ser)
NM_018131.5(CEP55):c.1306A>G (p.Ser436Gly)
NM_018131.5(CEP55):c.17C>G (p.Thr6Ser)
NM_018131.5(CEP55):c.181G>A (p.Glu61Lys)
NM_018131.5(CEP55):c.323C>T (p.Thr108Met)
NM_018131.5(CEP55):c.379G>A (p.Val127Ile)
NM_018131.5(CEP55):c.403G>A (p.Ala135Thr)
NM_018131.5(CEP55):c.416T>C (p.Ile139Thr)
NM_018131.5(CEP55):c.443C>T (p.Thr148Ile)
NM_018131.5(CEP55):c.55A>G (p.Ser19Gly)
NM_018131.5(CEP55):c.581A>G (p.Tyr194Cys)
NM_018131.5(CEP55):c.5C>T (p.Ser2Phe)
NM_018131.5(CEP55):c.697A>C (p.Lys233Gln)
NM_018131.5(CEP55):c.797G>A (p.Arg266Gln)
NM_018131.5(CEP55):c.806A>G (p.Tyr269Cys)
NM_018131.5(CEP55):c.878A>G (p.His293Arg)
NM_018131.5(CEP55):c.895C>T (p.His299Tyr)
NM_018131.5(CEP55):c.907A>G (p.Lys303Glu)
NM_018131.5(CEP55):c.976G>A (p.Glu326Lys)

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