List of variants in gene GAA reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 43

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.852G>A (p.Ala284=)	rs142626724	0.00638
NM_000152.5(GAA):c.1552-13G>A	rs111261964	0.00276
NM_000152.5(GAA):c.258C>A (p.Pro86=)	rs146615896	0.00170
NM_000152.5(GAA):c.1830C>T (p.Ala610=)	rs61736896	0.00118
NM_000152.5(GAA):c.915G>A (p.Gly305=)	rs150343359	0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=)	rs150536507	0.00112
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)	rs139850074	0.00056
NM_000152.5(GAA):c.858+8G>A	rs5822325	0.00055
NM_000152.5(GAA):c.119G>A (p.Arg40Gln)	rs374476196	0.00026
NM_000152.5(GAA):c.693-4G>T	rs200088236	0.00019
NM_000152.5(GAA):c.1332T>C (p.Pro444=)	rs200007324	0.00015
NM_000152.5(GAA):c.1593C>T (p.Asp531=)	rs138732016	0.00014
NM_000152.5(GAA):c.2052G>A (p.Pro684=)	rs546463058	0.00014
NM_000152.5(GAA):c.1758G>A (p.Ala586=)	rs79795428	0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=)	rs144090460	0.00010
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)	rs377402848	0.00010
NM_000152.5(GAA):c.1482A>G (p.Thr494=)	rs202064115	0.00009
NM_000152.5(GAA):c.664G>A (p.Val222Met)	rs374569672	0.00009
NM_000152.5(GAA):c.1194+3G>C	rs368539333	0.00008
NM_000152.5(GAA):c.1143C>T (p.Thr381=)	rs111832449	0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=)	rs757893858	0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=)	rs762542246	0.00006
NM_000152.5(GAA):c.510C>T (p.Asp170=)	rs564758226	0.00005
NM_000152.5(GAA):c.2757C>T (p.Asn919=)	rs766916186	0.00003
NM_000152.5(GAA):c.1083G>A (p.Pro361=)	rs781379047	0.00002
NM_000152.5(GAA):c.1560C>T (p.Asn520=)	rs116322271	0.00002
NM_000152.5(GAA):c.309C>T (p.Cys103=)	rs373307393	0.00002
NM_000152.5(GAA):c.687C>T (p.Arg229=)	rs149814041	0.00002
NM_000152.5(GAA):c.1116C>T (p.His372=)	rs760146859	0.00001
NM_000152.5(GAA):c.1347G>A (p.Ser449=)	rs756938942	0.00001
NM_000152.5(GAA):c.2070G>A (p.Pro690=)	rs757802524	0.00001
NM_000152.5(GAA):c.2544C>T (p.Thr848=)	rs776487269	0.00001
NM_000152.5(GAA):c.276C>T (p.Cys92=)	rs1232001857	0.00001
NM_000152.5(GAA):c.2844C>T (p.Leu948=)	rs774656713	0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=)	rs141427808	0.00001
NM_000152.5(GAA):c.681C>T (p.Asp227=)	rs780515378	0.00001
NM_000152.5(GAA):c.780C>T (p.Leu260=)	rs372614893	0.00001
NM_000152.5(GAA):c.1722C>T (p.Leu574=)	rs561357893
NM_000152.5(GAA):c.1845G>A (p.Gly615=)
NM_000152.5(GAA):c.186A>G (p.Arg62=)
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)	rs143324027
NM_000152.5(GAA):c.2430C>G (p.Pro810=)	rs554839058
NM_000152.5(GAA):c.2455C>A (p.Arg819=)

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.