ClinVar Miner

List of variants in gene GAA reported as likely benign by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00140
NM_000152.5(GAA):c.1754+11C>T rs371644603 0.00034
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000152.5(GAA):c.1754+17G>A rs769797291 0.00006
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093 0.00004
NM_000152.5(GAA):c.1551+12C>A rs937342824 0.00001
NM_000152.5(GAA):c.1637-11G>A rs557695694 0.00001
NM_000152.5(GAA):c.2041-13G>A rs1450561353 0.00001
NM_000152.5(GAA):c.2619C>T (p.Tyr873=) rs1555603132 0.00001
NM_000152.5(GAA):c.783C>T (p.Ala261=) rs757356178 0.00001
NM_000152.5(GAA):c.138C>G (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1437+15C>T rs2143867420
NM_000152.5(GAA):c.1637-10C>T rs2143881993
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.2043C>A (p.Pro681=) rs764174168
NM_000152.5(GAA):c.2289G>A (p.Val763=) rs767871949
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT rs1555599729

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.