List of variants in gene EMD reported as uncertain significance for not specified

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.646G>A (p.Gly216Arg)	rs147920229	0.00026
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)	rs139983160	0.00020
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)	rs137977232	0.00018
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)	rs374981936	0.00011
NM_000117.3(EMD):c.470G>A (p.Arg157Gln)	rs148515772	0.00009
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)	rs376456050	0.00006
NM_000117.3(EMD):c.215A>T (p.Asp72Val)	rs794729021	0.00005
NM_000117.3(EMD):c.436G>A (p.Glu146Lys)	rs782732591	0.00001
NM_000117.3(EMD):c.494C>T (p.Thr165Met)	rs397515751	0.00001
NM_000117.3(EMD):c.229C>T (p.Pro77Ser)	rs1557182365
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)	rs794729019
NM_000117.3(EMD):c.70G>A (p.Gly24Arg)	rs727504628
NM_000117.3(EMD):c.711C>G (p.Ile237Met)	rs727503037
NM_000117.3(EMD):c.73C>A (p.Pro25Thr)	rs876661346
NM_000117.3(EMD):c.77T>C (p.Val26Ala)	rs727505029

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.