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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)	rs144744629	0.00008
NM_014704.4(CEP104):c.496C>T (p.Arg166Ter)	rs374574638	0.00004
NM_014704.4(CEP104):c.895C>T (p.Arg299Ter)	rs778850368	0.00002
NM_014704.4(CEP104):c.163C>T (p.Arg55Ter)	rs757772764	0.00001
NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter)	rs372048855	0.00001
NC_000001.11:g.3823227_3823243del	rs765630867
NM_014704.4(CEP104):c.1031del (p.Lys344fs)
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)	rs749829859
NM_014704.4(CEP104):c.1082_1091del (p.Pro361fs)	rs776094913
NM_014704.4(CEP104):c.1328_1329insT (p.Tyr444fs)	rs869025277
NM_014704.4(CEP104):c.1351C>T (p.Arg451Ter)
NM_014704.4(CEP104):c.157A>T (p.Arg53Ter)
NM_014704.4(CEP104):c.2572-2A>G	rs869025278
NM_014704.4(CEP104):c.300_301del (p.Leu100_Cys101insTer)	rs1484807480
NM_014704.4(CEP104):c.735+2T>C	rs869025276
NM_014704.4(CEP104):c.808A>T (p.Lys270Ter)

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