List of variants in gene EMD reported 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
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)	rs139983160	0.00013
NM_000117.3(EMD):c.355C>A (p.Gln119Lys)	rs398123157	0.00005
NM_000117.3(EMD):c.611G>A (p.Arg204His)	rs782642152	0.00002
NM_000117.3(EMD):c.400G>A (p.Val134Met)	rs201250825	0.00001
NM_000117.3(EMD):c.575C>T (p.Ser192Phe)	rs782393829	0.00001
NM_000117.3(EMD):c.177_178del (p.Tyr59_Ser60delinsTer)	rs2067875732
NM_000117.3(EMD):c.548C>T (p.Pro183Leu)	rs104894805
NM_000117.3(EMD):c.58A>G (p.Asn20Asp)
NM_000117.3(EMD):c.616A>G (p.Ile206Val)	rs2522790523
NM_000117.3(EMD):c.648G>A (p.Gly216=)	rs2522790618
NM_000117.3(EMD):c.82G>A (p.Gly28Arg)	rs1064797380

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.