List of variants in gene OCRL reported as likely 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000276.4(OCRL):c.1565G>A (p.Ser522Asn)	rs2124412853
NM_000276.4(OCRL):c.1570C>T (p.His524Tyr)	rs1057521952
NM_000276.4(OCRL):c.1737del (p.Arg580fs)	rs2124418469
NM_000276.4(OCRL):c.2341+1G>A	rs1602818783

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