ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis 1 by Mendelics

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Total variants: 8
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HGVS dbSNP
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs)
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr)
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del)
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285

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