List of variants in gene OCRL reported as not provided by UniProtKB/Swiss-Prot

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: 35

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys)	rs137853831	0.00001
NM_000276.4(OCRL):c.1060A>C (p.Asn354His)	rs137853833
NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu)	rs137853854
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile)	rs137853832
NM_000276.4(OCRL):c.1115T>G (p.Val372Gly)	rs137853834
NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr)	rs137853835
NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe)	rs137853836
NM_000276.4(OCRL):c.1123C>T (p.His375Tyr)	rs137853848
NM_000276.4(OCRL):c.1241A>G (p.His414Arg)	rs137853837
NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu)	rs137853855
NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp)	rs137853856
NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn)	rs137853838
NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly)	rs137853850
NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly)	rs137853839
NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser)	rs137853851
NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys)	rs137853840
NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly)	rs137853841
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys)	rs137853262
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp)	rs137853846
NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr)	rs137853857
NM_000276.4(OCRL):c.1495G>C (p.Asp499His)	rs137853842
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)	rs137853260
NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg)	rs137853843
NM_000276.4(OCRL):c.1523T>A (p.Val508Asp)	rs137853849
NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys)	rs137853847
NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg)	rs137853853
NM_000276.4(OCRL):c.1571A>G (p.His524Arg)	rs137853852
NM_000276.4(OCRL):c.1572C>G (p.His524Gln)	rs137853261
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu)	rs137853858
NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys)	rs137853844
NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg)	rs137853845
NM_000276.4(OCRL):c.725T>C (p.Phe242Ser)	rs137853828
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr)	rs137853829
NM_000276.4(OCRL):c.830A>G (p.Gln277Arg)	rs137853830
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)	rs137853263

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.