List of variants reported as likely benign for Porphobilinogen synthase 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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000031.5(ALAD):c.-177C>T	rs28550589	0.02747
NM_000031.6(ALAD):c.1811_1812del	rs142213018	0.01239
NM_000031.6(ALAD):c.468G>A (p.Ala156=)	rs41305619	0.00348
NM_000031.6(ALAD):c.*317T>G	rs538745327	0.00245
NM_000031.6(ALAD):c.*771C>T	rs149384214	0.00230
NM_000031.6(ALAD):c.15C>T (p.Ser5=)	rs144608303	0.00195
NM_000031.6(ALAD):c.*1803A>G	rs41276803	0.00113
NM_000031.6(ALAD):c.-131C>T	rs531786276	0.00058
NM_000031.6(ALAD):c.*1473G>A	rs1062685	0.00040
NM_000031.6(ALAD):c.*1381G>A	rs140946306	0.00023
NM_000031.6(ALAD):c.692G>A (p.Arg231Gln)	rs201420740	0.00004
NM_000031.6(ALAD):c.-4C>T	rs755977870	0.00001
NM_000031.5(ALAD):c.-155C>G	rs7026518
NM_000031.5(ALAD):c.-162_-161dup	rs143518565
NM_000031.5(ALAD):c.-162dup	rs143518565

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.