List of variants in gene CRB1 reported as likely pathogenic by Institute of Medical Molecular Genetics, University of Zurich

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)	rs1658691162	0.00001
NM_201253.3(CRB1):c.1472A>T (p.Asp491Val)	rs1664299898
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	rs150412614
NM_201253.3(CRB1):c.2298G>A (p.Trp766Ter)	rs1664656299
NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser)	rs1571544334
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	rs398124615

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