List of variants in gene GPAA1 reported as pathogenic for autosomal recessive disease

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)	rs782339984	0.00015
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser)	rs782220208	0.00002
NM_003801.4(GPAA1):c.619del (p.Met207fs)	rs782615259	0.00001
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro)	rs782768127
NM_003801.4(GPAA1):c.1465C>T (p.Gln489Ter)
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn)	rs1554763777
NM_003801.4(GPAA1):c.1826C>T (p.Pro609Leu)	rs868951923
NM_003801.4(GPAA1):c.319_320del (p.Ser107fs)	rs1835941699
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro)	rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro)	rs1010907740
NM_003801.4(GPAA1):c.920del (p.Gly307fs)	rs1554764067
NM_003801.4(GPAA1):c.981_993del (p.Gln327fs)	rs1554764080

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.