ClinVar Miner

List of variants in gene CEP104, LOC126805586 studied for Joubert syndrome

Included ClinVar conditions (97):
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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014704.4(CEP104):c.1837-28G>C rs2275826 0.90435
NM_014704.4(CEP104):c.2057C>T (p.Ala686Val) rs2275831 0.09574
NM_014704.4(CEP104):c.1884G>T (p.Thr628=) rs12144567 0.00398
NM_014704.4(CEP104):c.1914A>G (p.Arg638=) rs2275829 0.00386
NM_014704.4(CEP104):c.1966C>T (p.Arg656Cys) rs148465057 0.00276
NM_014704.4(CEP104):c.1883C>T (p.Thr628Met) rs148397021 0.00026
NM_014704.4(CEP104):c.1851C>T (p.Ala617=) rs150585805 0.00022
NM_014704.4(CEP104):c.1953C>T (p.Asp651=) rs187512647 0.00015
NM_014704.4(CEP104):c.1950A>G (p.Pro650=) rs150482833 0.00011
NM_014704.4(CEP104):c.1877G>A (p.Arg626His) rs769355737 0.00002
NM_014704.4(CEP104):c.1906A>G (p.Met636Val) rs1317497394 0.00002
NM_014704.4(CEP104):c.2001A>G (p.Gly667=) rs767101698 0.00002
NM_014704.4(CEP104):c.2005G>A (p.Ala669Thr) rs761349278 0.00002
NM_014704.4(CEP104):c.1879G>T (p.Glu627Ter) rs750473230
NM_014704.4(CEP104):c.1905C>T (p.Asp635=) rs2124656471
NM_014704.4(CEP104):c.1988C>T (p.Thr663Ile)
NM_014704.4(CEP104):c.2011del (p.Lys670_Ile671insTer)
NM_014704.4(CEP104):c.2043+7del rs1191299471
NM_014704.4(CEP104):c.2088_2091del (p.Glu697fs)

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