List of variants in gene CEP41 reported as pathogenic for Joubert syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)	rs564625875	0.00006
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter)	rs781848162	0.00003
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)	rs782371437	0.00002
NM_018718.3(CEP41):c.33+2T>G	rs1584916464
NM_018718.3(CEP41):c.34-2A>G	rs1797714974
NM_018718.3(CEP41):c.423-2A>C	rs781815473
NM_018718.3(CEP41):c.423-2A>G	rs781815473
NM_018718.3(CEP41):c.477del (p.Glu160fs)
NM_018718.3(CEP41):c.7del (p.Leu3fs)	rs1798139951
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)	rs1584901211
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018718.3(CEP41):c.880del (p.Leu294fs)
NM_018718.3(CEP41):c.97+3_97+5del	rs2117674119

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