List of variants in gene CRB1 reported as pathogenic by Molecular Genetics Laboratory, Institute for Ophthalmic Research

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)	rs62636275	0.00003
NM_201253.3(CRB1):c.4039del (p.Thr1347fs)	rs745422941	0.00001
NM_201253.3(CRB1):c.1171+2T>G	rs1660519681
NM_201253.3(CRB1):c.1483del (p.Trp495fs)	rs1664301074
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln)	rs1057519162
NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter)	rs1558127317
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter)	rs772794324
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	rs150412614
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter)	rs759662695
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr)	rs1571544334
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro)	rs114630940
NM_201253.3(CRB1):c.3062T>C (p.Leu1021Pro)	rs1553262957
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu)	rs1064797128
NM_201253.3(CRB1):c.3934T>A (p.Cys1312Ser)	rs771257822
NM_201253.3(CRB1):c.410del (p.Pro137fs)	rs1558057153
NM_201253.3(CRB1):c.70+1G>A	rs1237424465
NM_201253.3(CRB1):c.733del (p.Ala245fs)	rs1659645978
NM_201253.3(CRB1):c.803_806del (p.Ser268fs)	rs1659651471

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