List of variants in gene LOC130003079, MAN1B1 studied 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
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser)	rs968733	0.91637
NM_016219.5(MAN1B1):c.183C>T (p.Asp61=)	rs202182837	0.00329
NM_016219.5(MAN1B1):c.213C>G (p.Cys71Trp)	rs575361734	0.00013
NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg)	rs372680556	0.00011
NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter)	rs753503405	0.00001
NM_016219.5(MAN1B1):c.155T>C (p.Val52Ala)
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=)	rs774835139
NM_016219.5(MAN1B1):c.164G>C (p.Ser55Thr)
NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter)	rs1377102705
NM_016219.5(MAN1B1):c.219+13C>T
NM_016219.5(MAN1B1):c.219+16G>C
NM_016219.5(MAN1B1):c.219+1G>A	rs2130983856
NM_016219.5(MAN1B1):c.219+20G>A
NM_016219.5(MAN1B1):c.219+9C>A
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)

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.