List of variants reported as likely pathogenic for amino acid metabolism disease by NeuroMeGen, Hospital Clinico Santiago de Compostela

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
NC_000001.10:g.(?_206516175)_(206567055_?)dup
NC_000001.10:g.(?_206579711)_(206634815_?)dup
NC_000016.10:g.(?_6316970)_(6317082_?)del
NC_000016.10:g.(?_6654578)_(6654675_?)del
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp)	rs1135401786
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)	rs1057524820
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys)	rs1554772945
NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile)	rs1553181323
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp)	rs1057519547

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.