ClinVar Miner

List of variants in gene CRB1 reported as likely pathogenic for Leber congenital amaurosis

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr) rs886039871
NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg)
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser)
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro) rs1355198242
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs) rs62636270
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln)
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe)
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752

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