List of variants in gene CEP290, LOC129390514 studied for cerebellar degeneration

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg)	rs755933899	0.00008
NM_025114.4(CEP290):c.6271-15C>T	rs764251517	0.00004
NM_025114.4(CEP290):c.6277del (p.Val2093fs)	rs771454167	0.00002
NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr)	rs2034573032	0.00001
NM_025114.4(CEP290):c.6271-1G>A	rs2034579709
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile)	rs2034578914
NM_025114.4(CEP290):c.6283G>T (p.Asp2095Tyr)
NM_025114.4(CEP290):c.6311A>C (p.Lys2104Thr)
NM_025114.4(CEP290):c.6312_6314del (p.Lys2105del)	rs749826807
NM_025114.4(CEP290):c.6357+1G>A	rs1196938557

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