ClinVar Miner

List of variants studied for Beta-D-mannosidosis by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NC_000004.12:g.(?_102650517)_(102726703_?)del
NM_005908.4(MANBA):c.1025A>G (p.Tyr342Cys)
NM_005908.4(MANBA):c.1112+9T>C rs528890323
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp)
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403
NM_005908.4(MANBA):c.130G>A (p.Val44Ile) rs1432738569
NM_005908.4(MANBA):c.1318-1G>T rs374545788
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs) rs1188116333
NM_005908.4(MANBA):c.1471G>A (p.Glu491Lys) rs1578882546
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) rs74718667
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1511C>T (p.Thr504Met)
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu) rs147023714
NM_005908.4(MANBA):c.168C>T (p.Gly56=)
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.1735A>G (p.Ser579Gly)
NM_005908.4(MANBA):c.178-3C>T
NM_005908.4(MANBA):c.178-8A>G rs113584126
NM_005908.4(MANBA):c.1823G>A (p.Ser608Asn)
NM_005908.4(MANBA):c.1837C>T (p.Arg613Cys)
NM_005908.4(MANBA):c.1912C>T (p.Arg638Cys)
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)
NM_005908.4(MANBA):c.1945G>T (p.Gly649Trp)
NM_005908.4(MANBA):c.2018A>G (p.Tyr673Cys)
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352
NM_005908.4(MANBA):c.2201G>A (p.Arg734His)
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415
NM_005908.4(MANBA):c.2282G>C (p.Cys761Ser) rs538584064
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) rs116340501
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs) rs1341763493
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_005908.4(MANBA):c.2416-20dup
NM_005908.4(MANBA):c.2416-9C>T rs200835097
NM_005908.4(MANBA):c.2416-9del rs1345228065
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val) rs367692761
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658
NM_005908.4(MANBA):c.2489T>G (p.Leu830Trp)
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn) rs376012848
NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs)
NM_005908.4(MANBA):c.315G>A (p.Thr105=) rs6857760
NM_005908.4(MANBA):c.347T>C (p.Ile116Thr)
NM_005908.4(MANBA):c.408C>G (p.Asp136Glu)
NM_005908.4(MANBA):c.478C>T (p.Arg160Cys) rs114543305
NM_005908.4(MANBA):c.482A>G (p.Tyr161Cys)
NM_005908.4(MANBA):c.531T>C (p.His177=) rs149902075
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368
NM_005908.4(MANBA):c.778A>G (p.Thr260Ala)
NM_005908.4(MANBA):c.792C>T (p.Tyr264=)
NM_005908.4(MANBA):c.831A>G (p.Leu277=) rs17033168
NM_005908.4(MANBA):c.935G>C (p.Gly312Ala)
NM_005908.4(MANBA):c.961G>T (p.Val321Phe) rs145367849

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.