List of variants in gene CEP290 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4029G>A (p.Lys1343=)	rs1057519245	0.00001
NM_025114.4(CEP290):c.1A>G (p.Met1Val)	rs2040644756
NM_025114.4(CEP290):c.2682dup (p.Ser895fs)	rs1555216730
NM_025114.4(CEP290):c.3784_3785insTT (p.His1262fs)	rs1064797171
NM_025114.4(CEP290):c.4029+1G>A	rs2036808766
NM_025114.4(CEP290):c.6135+2T>A	rs1555200648
NM_025114.4(CEP290):c.628A>T (p.Lys210Ter)	rs763473957
NM_025114.4(CEP290):c.6516del (p.Lys2172fs)	rs1057519165
NM_025114.4(CEP290):c.7048C>A (p.Gln2350Lys)	rs375548374

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