List of variants in gene RPE65 reported as likely benign for Leber congenital amaurosis 1

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.48T>C (p.Phe16=)	rs62642581	0.00059
NM_000329.3(RPE65):c.117C>T (p.Thr39=)	rs143929144	0.00050
NM_000329.3(RPE65):c.295G>A (p.Val99Ile)	rs143056561	0.00009
NM_000329.3(RPE65):c.585C>T (p.Cys195=)	rs571111378	0.00007
NM_000329.3(RPE65):c.1086A>G (p.Gln362=)	rs750890448	0.00006
NM_000329.3(RPE65):c.75G>A (p.Pro25=)	rs199529021	0.00004
NM_000329.3(RPE65):c.94+10G>A	rs777879312	0.00004
NM_000329.3(RPE65):c.942C>T (p.His314=)	rs752875512	0.00004
NM_000329.3(RPE65):c.886A>C (p.Arg296=)	rs1399365841	0.00001

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