ClinVar Miner

List of variants in gene CRB1 studied for Leber congenital amaurosis

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Total variants: 18
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HGVS dbSNP
NM_201253.3(CRB1):c.*331_*337dup rs886045790
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1172-15T>A rs375141011
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs)
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275
NM_201253.3(CRB1):c.4005+1G>A
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly)
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752

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