ClinVar Miner

List of variants in gene CEP104 reported as likely benign for Joubert syndrome 25

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Gene type:
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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_014704.4(CEP104):c.1317+17A>C rs370703159 0.00363
NM_014704.4(CEP104):c.2439C>T (p.Tyr813=) rs78228821 0.00046
NM_014704.4(CEP104):c.843C>T (p.Ala281=) rs150027992 0.00046
NM_014704.4(CEP104):c.1653T>C (p.Phe551=) rs141730324 0.00040
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.2766C>T (p.Tyr922=) rs750794560 0.00027
NM_014704.4(CEP104):c.1473C>T (p.Asp491=) rs748424047 0.00023
NM_014704.4(CEP104):c.927C>T (p.Leu309=) rs151315497 0.00022
NM_014704.4(CEP104):c.2730G>A (p.Pro910=) rs200742076 0.00015
NM_014704.4(CEP104):c.113+19G>A rs375705587 0.00010
NM_014704.4(CEP104):c.1485+20G>A rs368037840 0.00010
NM_014704.4(CEP104):c.123G>A (p.Gln41=) rs1223046607 0.00008
NM_014704.4(CEP104):c.113+14G>A rs369214357 0.00007
NM_014704.4(CEP104):c.2151+16G>A rs772315672 0.00007
NM_014704.4(CEP104):c.561C>T (p.Tyr187=) rs374191673 0.00007
NM_014704.4(CEP104):c.1194G>A (p.Pro398=) rs372294561 0.00005
NM_014704.4(CEP104):c.2601C>T (p.Ala867=) rs775891204 0.00005
NM_014704.4(CEP104):c.2649G>A (p.Pro883=) rs747029336 0.00005
NM_014704.4(CEP104):c.2658G>A (p.Gln886=) rs202022682 0.00005
NM_014704.4(CEP104):c.2662+12C>T rs745711038 0.00005
NM_014704.4(CEP104):c.2662+13G>A rs369179178 0.00005
NM_014704.4(CEP104):c.1317+12_1317+13insC rs754913642 0.00004
NM_014704.4(CEP104):c.2151+15C>T rs773370802 0.00004
NM_014704.4(CEP104):c.2255+8G>A rs377689419 0.00004
NM_014704.4(CEP104):c.2662+10A>T rs552644535 0.00004
NM_014704.4(CEP104):c.2755A>G (p.Ser919Gly) rs755406055 0.00004
NM_014704.4(CEP104):c.1659+17G>A rs147923384 0.00003
NM_014704.4(CEP104):c.2344A>C (p.Arg782=) rs749038815 0.00003
NM_014704.4(CEP104):c.2709C>T (p.Ala903=) rs767762091 0.00003
NM_014704.4(CEP104):c.1317+17_1317+18insC rs776041744 0.00002
NM_014704.4(CEP104):c.2365-18C>G rs571204315 0.00002
NM_014704.4(CEP104):c.426+19C>T rs1198135468 0.00002
NM_014704.4(CEP104):c.891+20C>T rs371191581 0.00002
NM_014704.4(CEP104):c.1226G>A (p.Arg409Gln) rs143501631 0.00001
NM_014704.4(CEP104):c.1635C>T (p.Arg545=) rs1260564881 0.00001
NM_014704.4(CEP104):c.1659+16C>T rs544708878 0.00001
NM_014704.4(CEP104):c.1659+8C>T rs778868893 0.00001
NM_014704.4(CEP104):c.2160A>G (p.Glu720=) rs754348247 0.00001
NM_014704.4(CEP104):c.2514G>A (p.Pro838=) rs578262183 0.00001
NM_014704.4(CEP104):c.2703A>G (p.Ser901=) rs369737290 0.00001
NM_014704.4(CEP104):c.566+12G>A rs1252942621 0.00001
NM_014704.4(CEP104):c.606T>C (p.Phe202=) rs543852756 0.00001
NM_014704.4(CEP104):c.729G>A (p.Leu243=) rs897283929 0.00001
NM_014704.4(CEP104):c.885C>T (p.Ala295=) rs370148973 0.00001
NM_014704.4(CEP104):c.113+7A>C rs765246713
NM_014704.4(CEP104):c.114-13T>G
NM_014704.4(CEP104):c.1218C>T (p.Ser406=)
NM_014704.4(CEP104):c.1317+16A>C rs893478503
NM_014704.4(CEP104):c.1317+16_1317+17insAAAC
NM_014704.4(CEP104):c.1479G>A (p.Val493=) rs2525437457
NM_014704.4(CEP104):c.1485+14G>A rs2124668323
NM_014704.4(CEP104):c.1594G>A (p.Val532Ile)
NM_014704.4(CEP104):c.2111G>A (p.Gly704Glu) rs139181137
NM_014704.4(CEP104):c.2127G>C (p.Leu709=) rs1228921351
NM_014704.4(CEP104):c.2214T>C (p.Pro738=) rs2124649026
NM_014704.4(CEP104):c.2298G>A (p.Glu766=)
NM_014704.4(CEP104):c.2325G>A (p.Lys775=) rs2525371006
NM_014704.4(CEP104):c.2364+10G>A
NM_014704.4(CEP104):c.2365-10C>T
NM_014704.4(CEP104):c.2365-18C>T
NM_014704.4(CEP104):c.2403G>A (p.Thr801=)
NM_014704.4(CEP104):c.2460C>T (p.Phe820=) rs2525353698
NM_014704.4(CEP104):c.24A>G (p.Val8=)
NM_014704.4(CEP104):c.2503+17A>G rs1644018853
NM_014704.4(CEP104):c.2751C>T (p.Ser917=) rs538187962
NM_014704.4(CEP104):c.2775C>T (p.Arg925=) rs2525304833
NM_014704.4(CEP104):c.27C>T (p.Val9=)
NM_014704.4(CEP104):c.287+15T>C
NM_014704.4(CEP104):c.30C>T (p.Val10=)
NM_014704.4(CEP104):c.390C>T (p.His130=) rs1011573112
NM_014704.4(CEP104):c.426+20G>A rs369593331
NM_014704.4(CEP104):c.45C>T (p.His15=) rs138006027
NM_014704.4(CEP104):c.489+15T>C rs773758378
NM_014704.4(CEP104):c.567-7_567-6del
NM_014704.4(CEP104):c.6C>T (p.Pro2=)
NM_014704.4(CEP104):c.736-19_736-18delinsAT rs2124676799
NM_014704.4(CEP104):c.750T>C (p.Leu250=)
NM_014704.4(CEP104):c.768G>A (p.Glu256=)
NM_014704.4(CEP104):c.892-16C>G rs1480557281
NM_014704.4(CEP104):c.984A>G (p.Glu328=) rs759694662

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