ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)
NM_003322.6(TULP1):c.1388del (p.Asn463fs)
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)
NM_020366.3(RPGRIP1):c.2759_2760insT (p.Gln920fs)
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.3(RPGRIP1):c.800+1G>A
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
NM_201253.3(CRB1):c.281_282del (p.Phe94fs)
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.3460_3461TG[1] (p.Cys1154_Glu1155delinsTer)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)

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