List of variants in gene GBE1 reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000158.4(GBE1):c.1716C>T (p.Asp572=)	rs2229520	0.01610
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)	rs35196441	0.00569
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)	rs193074572	0.00529
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)	rs28763902	0.00388
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)	rs62267114	0.00125
NM_000158.4(GBE1):c.691+2T>C	rs192044702	0.00078
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)	rs201758548	0.00071
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)	rs185631651	0.00054
NM_000158.4(GBE1):c.496C>T (p.Arg166Cys)	rs376546162	0.00009
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)	rs137852888	0.00006
NM_000158.4(GBE1):c.292G>C (p.Val98Leu)	rs762945205	0.00002
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)	rs1456579860
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly)	rs137852888
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)	rs80338671

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.