ClinVar Miner

List of variants studied for Beta-D-mannosidosis by Illumina Laboratory Services, Illumina

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.*384C>T rs4019 0.55353
NM_005908.4(MANBA):c.*401G>A rs4013 0.55336
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697 0.55313
NM_005908.4(MANBA):c.*124T>C rs3194585 0.55297
NM_005908.4(MANBA):c.*161C>T rs1054029 0.55296
NM_005908.4(MANBA):c.*505G>A rs1054037 0.54146
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_005908.4(MANBA):c.315G>A (p.Thr105=) rs6857760 0.10011
NM_005908.4(MANBA):c.*356G>A rs7672268 0.04355
NM_005908.4(MANBA):c.831A>G (p.Leu277=) rs17033168 0.04331
NM_005908.4(MANBA):c.*317A>G rs78514870 0.03053
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) rs74718667 0.02371
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01517
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) rs116340501 0.01154
NM_005908.4(MANBA):c.178-8A>G rs113584126 0.01028
NM_005908.4(MANBA):c.*521G>A rs138999320 0.00415
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352 0.00205
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403 0.00173
NM_005908.4(MANBA):c.*437A>T rs80064803 0.00096
NM_005908.4(MANBA):c.479G>A (p.Arg160His) rs144917953 0.00088
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_005908.4(MANBA):c.*8T>G rs199881261 0.00068
NM_005908.4(MANBA):c.531T>C (p.His177=) rs149902075 0.00059
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514 0.00029
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys) rs140692906 0.00021
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu) rs147023714 0.00017
NM_005908.4(MANBA):c.2416-3C>T rs375466384 0.00017
NM_005908.4(MANBA):c.*172G>A rs146374185 0.00011
NM_005908.4(MANBA):c.1913G>A (p.Arg638His) rs781584789 0.00011
NM_005908.4(MANBA):c.849+13A>C rs76954465 0.00011
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe) rs201779762 0.00008
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val) rs367692761 0.00005
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn) rs376012848 0.00003
NM_005908.4(MANBA):c.*447G>A rs1025033156 0.00002
NM_005908.4(MANBA):c.*516T>C rs562838260 0.00002
NM_005908.4(MANBA):c.1317+14C>A rs200935345 0.00002
NM_005908.4(MANBA):c.2389G>A (p.Val797Met) rs747236675 0.00002
NM_005908.4(MANBA):c.378+1G>A rs142029636 0.00002
NM_005908.4(MANBA):c.*184A>G rs886058967 0.00001
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val) rs199966543 0.00001
NM_005908.4(MANBA):c.1112+8A>C rs752741187 0.00001
NM_005908.4(MANBA):c.111G>T (p.Ser37=) rs927918838 0.00001
NM_005908.4(MANBA):c.1477G>A (p.Val493Ile) rs561172083 0.00001
NM_005908.4(MANBA):c.1522A>G (p.Thr508Ala) rs778853902 0.00001
NM_005908.4(MANBA):c.1746A>T (p.Ser582=) rs1730293546 0.00001
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=) rs180816849 0.00001
NM_005908.4(MANBA):c.*314A>G rs886058966
NM_005908.4(MANBA):c.*328T>A rs1729383430
NM_005908.4(MANBA):c.*503G>C rs1022995879
NM_005908.4(MANBA):c.-58G>A rs548442432
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu) rs200033515
NM_005908.4(MANBA):c.1953G>A (p.Thr651=) rs886058968
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2212C>T (p.Arg738Cys) rs763613927
NM_005908.4(MANBA):c.2269T>C (p.Leu757=) rs774068992
NM_005908.4(MANBA):c.2358C>T (p.Asn786=) rs767182713
NM_005908.4(MANBA):c.2415+1G>C rs1284324018
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr) rs182869272
NM_005908.4(MANBA):c.492C>T (p.Pro164=) rs1722640489
NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys) rs1724216325
NM_005908.4(MANBA):c.746G>A (p.Gly249Asp) rs1732436667
NM_005908.4(MANBA):c.77G>A (p.Arg26His) rs767103860
NM_005908.4(MANBA):c.961-8C>A rs886058969

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