ClinVar Miner

List of variants in gene CEP104 studied for Joubert syndrome 25

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Total variants: 24
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HGVS dbSNP
NC_000001.10:g.(?_3731946)_(3768991_?)del
NM_014704.4(CEP104):c.1082_1091del (p.Pro361fs) rs776094913
NM_014704.4(CEP104):c.1120-5T>A
NM_014704.4(CEP104):c.1217G>A (p.Ser406Asn)
NM_014704.4(CEP104):c.1308A>T (p.Gly436=) rs148455387
NM_014704.4(CEP104):c.1328_1329insT (p.Tyr444fs) rs869025277
NM_014704.4(CEP104):c.1363C>T (p.Leu455=) rs115015364
NM_014704.4(CEP104):c.1386A>G (p.Leu462=) rs76234817
NM_014704.4(CEP104):c.177G>A (p.Leu59=) rs79859848
NM_014704.4(CEP104):c.1884G>T (p.Thr628=) rs12144567
NM_014704.4(CEP104):c.1914A>G (p.Arg638=) rs2275829
NM_014704.4(CEP104):c.2569G>A (p.Glu857Lys) rs111626991
NM_014704.4(CEP104):c.2572-2A>G rs869025278
NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser) rs185664269
NM_014704.4(CEP104):c.2737G>A (p.Gly913Arg)
NM_014704.4(CEP104):c.485A>G (p.Asn162Ser)
NM_014704.4(CEP104):c.496C>T (p.Arg166Ter) rs374574638
NM_014704.4(CEP104):c.49del (p.Asp17fs) rs1334483830
NM_014704.4(CEP104):c.552A>T (p.Glu184Asp) rs61745578
NM_014704.4(CEP104):c.664C>T (p.Arg222Trp) rs142899837
NM_014704.4(CEP104):c.681G>A (p.Lys227=) rs61746709
NM_014704.4(CEP104):c.735+2T>C rs869025276
NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter) rs372048855
NM_014704.4(CEP104):c.781G>A (p.Val261Met) rs768279838

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