List of variants studied for Joubert syndrome 25 by Genome-Nilou Lab

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_014704.4(CEP104):c.744A>G (p.Glu248=)	rs1891941	0.90437
NM_014704.4(CEP104):c.1837-28G>C	rs2275826	0.90435
NM_014704.4(CEP104):c.1836+7A>G	rs6413779	0.90433
NM_014704.4(CEP104):c.2151+43A>G	rs2275832	0.67270
NM_014704.4(CEP104):c.2662+62A>G	rs6703035	0.66882
NM_014704.4(CEP104):c.2663-22A>G	rs4648409	0.64762
NM_014704.4(CEP104):c.2663-91G>A	rs4233019	0.64758
NM_014704.4(CEP104):c.558G>A (p.Thr186=)	rs2275822	0.41945
NM_014704.4(CEP104):c.2152-11C>T	rs6663840	0.38899
NM_014704.4(CEP104):c.1240T>A (p.Leu414Ile)	rs2275824	0.32901

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