List of variants in gene CEP290 reported as likely benign for Senior-Loken syndrome 6

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

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.-33G>T	rs139415563	0.00894
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	rs188164241	0.00405
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	rs117370446	0.00329
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	rs139998038	0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	rs183655276	0.00187
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	rs201838492	0.00133
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)	rs181248369	0.00106
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)	rs201614215	0.00091
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	rs201988582	0.00054
NM_025114.4(CEP290):c.503G>A (p.Arg168His)	rs200063017	0.00029
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)	rs140236736	0.00007
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)	rs546463648	0.00001

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