ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis 2

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Total variants: 31
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HGVS dbSNP
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val) rs1571164534
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr) rs1571158755
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) rs62637007
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del)
NM_000329.3(RPE65):c.1451-2A>C rs1557595199
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.186_191del (p.Asp62_Gln64delinsGlu)
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg)
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro) rs61752873
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)
NM_000329.3(RPE65):c.407T>G (p.Val136Gly)
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp) rs61752882
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883
NM_000329.3(RPE65):c.544C>A (p.His182Asn) rs61752884
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808
NM_000329.3(RPE65):c.770T>G (p.Val257Gly)
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu)
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908

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