ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser) rs2655655
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) rs2064318
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910
NM_020366.3(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310

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