List of variants reported as pathogenic for Alacrima, achalasia, and intellectual disability syndrome by OMIM

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter)	rs397518460	0.00001
NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro)	rs397518461
NM_013335.4(GMPPA):c.1118G>C (p.Ser373Thr)	rs1694593071
NM_013335.4(GMPPA):c.210del (p.Ala71fs)	rs886037654
NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp)	rs397518462
NM_013335.4(GMPPA):c.642G>A (p.Trp214Ter)	rs2125639654

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.