ClinVar Miner

List of variants reported for Deficiency of alpha-mannosidase by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887 0.01841
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu) rs59357922 0.00793
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His) rs139041112 0.00044
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076 0.00041
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682 0.00030
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser) rs753397171 0.00016
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys) rs770791374 0.00008
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000528.4(MAN2B1):c.1026+2T>G rs369099686 0.00002
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968 0.00002
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys) rs199700264 0.00002
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys) rs765088432 0.00002
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856 0.00001
NM_000528.4(MAN2B1):c.1309A>G (p.Asn437Asp) rs370036738 0.00001
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00001
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly) rs781046464 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro) rs139041112
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro) rs864621979
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487

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.