List of variants in gene CEP104, LOC126805587 studied for Joubert syndrome 25

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_014704.4(CEP104):c.1836+7A>G	rs6413779	0.90433
NM_014704.4(CEP104):c.1836+14G>A	rs75027831	0.00632
NM_014704.4(CEP104):c.1820T>C (p.Ile607Thr)	rs140512094	0.00021
NM_014704.4(CEP104):c.1809G>A (p.Ser603=)	rs373264198	0.00005
NM_014704.4(CEP104):c.1660-4A>C	rs1274672044	0.00001
NM_014704.4(CEP104):c.1745del (p.His582fs)	rs1211389550	0.00001
NM_014704.4(CEP104):c.1836+16G>A	rs201343972	0.00001
NM_014704.4(CEP104):c.1702C>T (p.Pro568Ser)
NM_014704.4(CEP104):c.1716G>A (p.Val572=)	rs1570796463
NM_014704.4(CEP104):c.1836+11C>G

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