ClinVar Miner

List of variants in gene CEP104 reported as uncertain significance for not provided

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_014704.4(CEP104):c.664C>T (p.Arg222Trp) rs142899837 0.00050
NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser) rs185664269 0.00044
NM_014704.4(CEP104):c.2621G>A (p.Arg874His) rs139076247 0.00036
NM_014704.4(CEP104):c.278G>A (p.Arg93Gln) rs199576006 0.00034
NM_014704.4(CEP104):c.550G>C (p.Glu184Gln) rs146922115 0.00028
NM_014704.4(CEP104):c.626A>G (p.Glu209Gly) rs140029326 0.00028
NM_014704.4(CEP104):c.2282G>A (p.Ser761Asn) rs537512159 0.00025
NM_014704.4(CEP104):c.2182A>G (p.Asn728Asp) rs144805659 0.00019
NM_014704.4(CEP104):c.271C>T (p.Arg91Trp) rs201531250 0.00012
NM_014704.4(CEP104):c.1120-5T>A rs200748628 0.00011
NM_014704.4(CEP104):c.52G>A (p.Gly18Ser) rs145413305 0.00011
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter) rs144744629 0.00008
NM_014704.4(CEP104):c.2749A>G (p.Ser917Gly) rs771769043 0.00006
NM_014704.4(CEP104):c.1570C>T (p.His524Tyr) rs778672499 0.00005
NM_014704.4(CEP104):c.2683G>A (p.Ala895Thr) rs372708011 0.00005
NM_014704.4(CEP104):c.583T>G (p.Ser195Ala) rs760840197 0.00005
NM_014704.4(CEP104):c.2755A>G (p.Ser919Gly) rs755406055 0.00004
NM_014704.4(CEP104):c.342A>C (p.Lys114Asn) rs779086283 0.00004
NM_014704.4(CEP104):c.896G>A (p.Arg299Gln) rs199911672 0.00003
NM_014704.4(CEP104):c.2602G>A (p.Gly868Ser) rs1329373364 0.00002
NM_014704.4(CEP104):c.1163G>A (p.Arg388His) rs780478231 0.00001
NM_014704.4(CEP104):c.1226G>A (p.Arg409Gln) rs143501631 0.00001
NM_014704.4(CEP104):c.1403G>A (p.Gly468Glu) rs775958624 0.00001
NM_014704.4(CEP104):c.2674G>A (p.Ala892Thr) rs746706047 0.00001
NM_014704.4(CEP104):c.475G>A (p.Asp159Asn) rs754892174 0.00001
NM_014704.4(CEP104):c.991G>A (p.Gly331Arg) rs776762216 0.00001
NM_014704.4(CEP104):c.1005G>C (p.Gln335His) rs779040472
NM_014704.4(CEP104):c.1078G>A (p.Asp360Asn) rs138041564
NM_014704.4(CEP104):c.1082C>T (p.Pro361Leu) rs369557437
NM_014704.4(CEP104):c.1138G>A (p.Asp380Asn)
NM_014704.4(CEP104):c.1658A>G (p.Gln553Arg)
NM_014704.4(CEP104):c.317C>G (p.Thr106Arg)
NM_014704.4(CEP104):c.449T>C (p.Ile150Thr)
NM_014704.4(CEP104):c.643C>G (p.Arg215Gly)
NM_014704.4(CEP104):c.736-2A>T
NM_014704.4(CEP104):c.852C>A (p.Tyr284Ter) rs774609492
NM_014704.4(CEP104):c.926T>G (p.Leu309Arg) rs1644337654
NM_014704.4(CEP104):c.963G>A (p.Met321Ile) rs2525455778

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