List of variants in gene CEP290 reported as likely benign for Inborn genetic diseases

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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: 16

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HGVS	dbSNP	gnomAD frequency
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.4102G>A (p.Asp1368Asn)	rs184143186	0.00125
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	rs150296134	0.00073
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)	rs373913704	0.00057
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	rs201988582	0.00054
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)	rs370464321	0.00009
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp)	rs997653455	0.00001
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)	rs748034744	0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)	rs764963626	0.00001
NM_025114.4(CEP290):c.4326C>G (p.Ile1442Met)	rs772233823	0.00001
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)	rs1459958084
NM_025114.4(CEP290):c.251-4del	rs759170743
NM_025114.4(CEP290):c.2704A>G (p.Thr902Ala)
NM_025114.4(CEP290):c.4534A>G (p.Thr1512Ala)
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)	rs371157150

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