List of variants in gene OCRL reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000276.4(OCRL):c.2341+1G>A	rs1602818783
NM_000276.4(OCRL):c.2357_2358del (p.Ser786fs)	rs1936551332
NM_000276.4(OCRL):c.497C>A (p.Ser166Ter)	rs1936098220

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