ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs) rs1571848132
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr) rs1571848190
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del) rs1571848216

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