List of variants in gene MAN2B1 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000528.4(MAN2B1):c.1830+1G>C	rs80338677	0.00008
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)	rs80338681	0.00006
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)	rs121434331	0.00002
NM_000528.4(MAN2B1):c.1026+2T>G	rs369099686	0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)	rs1057516927	0.00001
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)	rs1429239930	0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)	rs763257568	0.00001
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)	rs786204715
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter)	rs398123455
NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter)	rs764376758
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)	rs80338680
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)	rs1008745697
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)	rs1406466561
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs)	rs1735642901
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)	rs370803545
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter)	rs2024155693

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.