List of variants reported as likely benign for metabolic disease involving other neurotransmitter deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000055.4(BCHE):c.*349G>A	rs55849903	0.02281
NM_000055.4(BCHE):c.*180G>A	rs139885577	0.01802
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)	rs116474260	0.00908
NM_000171.4(GLRA1):c.-164C>T	rs529450119	0.00154
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser)	rs376426309	0.00009
NM_000824.5(GLRB):c.423T>C (p.Pro141=)	rs145564477	0.00004
NM_000171.4(GLRA1):c.198C>T (p.Asn66=)	rs200606738	0.00003
NM_000171.4(GLRA1):c.185-9G>A	rs371382193	0.00001
NM_000171.4(GLRA1):c.585C>T (p.Ile195=)	rs370809444

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.