ClinVar Miner

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

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 64
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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 0.00039
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.113+14G>A rs369214357 0.00008
NM_014704.4(CEP104):c.1485+20G>A rs368037840 0.00008
NM_014704.4(CEP104):c.561C>T (p.Tyr187=) rs374191673 0.00007
NM_014704.4(CEP104):c.1194G>A (p.Pro398=) rs372294561 0.00006
NM_014704.4(CEP104):c.2649G>A (p.Pro883=) rs747029336 0.00006
NM_014704.4(CEP104):c.2658G>A (p.Gln886=) rs202022682 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.1226G>A (p.Arg409Gln) rs143501631 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.729G>A (p.Leu243=) rs897283929 0.00001
NM_014704.4(CEP104):c.113+19G>A
NM_014704.4(CEP104):c.113+7A>C
NM_014704.4(CEP104):c.123G>A (p.Gln41=)
NM_014704.4(CEP104):c.1317+12_1317+13insC
NM_014704.4(CEP104):c.1317+16A>C
NM_014704.4(CEP104):c.1317+17_1317+18insC
NM_014704.4(CEP104):c.1473C>T (p.Asp491=)
NM_014704.4(CEP104):c.1479G>A (p.Val493=)
NM_014704.4(CEP104):c.1485+14G>A rs2124668323
NM_014704.4(CEP104):c.1635C>T (p.Arg545=)
NM_014704.4(CEP104):c.1659+16C>T
NM_014704.4(CEP104):c.1659+17G>A
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.2151+15C>T
NM_014704.4(CEP104):c.2151+16G>A
NM_014704.4(CEP104):c.2214T>C (p.Pro738=) rs2124649026
NM_014704.4(CEP104):c.2255+8G>A
NM_014704.4(CEP104):c.2325G>A (p.Lys775=)
NM_014704.4(CEP104):c.2344A>C (p.Arg782=)
NM_014704.4(CEP104):c.2365-18C>G
NM_014704.4(CEP104):c.2460C>T (p.Phe820=)
NM_014704.4(CEP104):c.2503+17A>G
NM_014704.4(CEP104):c.2601C>T (p.Ala867=)
NM_014704.4(CEP104):c.2662+12C>T
NM_014704.4(CEP104):c.2662+13G>A
NM_014704.4(CEP104):c.2703A>G (p.Ser901=) rs369737290
NM_014704.4(CEP104):c.2709C>T (p.Ala903=)
NM_014704.4(CEP104):c.2730G>A (p.Pro910=)
NM_014704.4(CEP104):c.2751C>T (p.Ser917=) rs538187962
NM_014704.4(CEP104):c.2775C>T (p.Arg925=)
NM_014704.4(CEP104):c.390C>T (p.His130=) rs1011573112
NM_014704.4(CEP104):c.426+19C>T
NM_014704.4(CEP104):c.426+20G>A
NM_014704.4(CEP104):c.45C>T (p.His15=)
NM_014704.4(CEP104):c.489+15T>C
NM_014704.4(CEP104):c.566+12G>A
NM_014704.4(CEP104):c.606T>C (p.Phe202=)
NM_014704.4(CEP104):c.736-19_736-18delinsAT rs2124676799
NM_014704.4(CEP104):c.885C>T (p.Ala295=)
NM_014704.4(CEP104):c.891+20C>T
NM_014704.4(CEP104):c.892-16C>G
NM_014704.4(CEP104):c.927C>T (p.Leu309=)
NM_014704.4(CEP104):c.984A>G (p.Glu328=)

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