ClinVar Miner

List of variants in gene MANBA reported as uncertain significance for Beta-D-mannosidosis

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Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352 0.00205
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe) rs147437033 0.00195
NM_005908.4(MANBA):c.479G>A (p.Arg160His) rs144917953 0.00088
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.2633T>C (p.Ile878Thr) rs145756079 0.00018
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.1499G>A (p.Arg500His) rs147542645 0.00014
NM_005908.4(MANBA):c.1912C>T (p.Arg638Cys) rs746340334 0.00014
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.1025A>G (p.Tyr342Cys) rs771658981 0.00010
NM_005908.4(MANBA):c.1511C>T (p.Thr504Met) rs370002189 0.00009
NM_005908.4(MANBA):c.1735A>G (p.Ser579Gly) rs376879093 0.00009
NM_005908.4(MANBA):c.1916G>A (p.Arg639His) rs536744758 0.00008
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe) rs201779762 0.00008
NM_005908.4(MANBA):c.1573A>G (p.Ser525Gly) rs138216864 0.00007
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_005908.4(MANBA):c.418A>G (p.Ile140Val) rs572164146 0.00006
NM_005908.4(MANBA):c.1837C>T (p.Arg613Cys) rs749814120 0.00005
NM_005908.4(MANBA):c.2138A>T (p.Asp713Val) rs773650770 0.00005
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val) rs367692761 0.00005
NM_005908.4(MANBA):c.1131G>C (p.Gln377His) rs762175890 0.00004
NM_005908.4(MANBA):c.1430A>G (p.Tyr477Cys) rs200133664 0.00004
NM_005908.4(MANBA):c.2378C>T (p.Pro793Leu) rs376410219 0.00004
NM_005908.4(MANBA):c.347T>C (p.Ile116Thr) rs775841860 0.00004
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.1339C>T (p.Pro447Ser) rs755785845 0.00002
NM_005908.4(MANBA):c.1439A>G (p.Asp480Gly) rs201830848 0.00002
NM_005908.4(MANBA):c.1471G>A (p.Glu491Lys) rs1578882546 0.00002
NM_005908.4(MANBA):c.1709C>T (p.Ser570Leu) rs542071291 0.00002
NM_005908.4(MANBA):c.1846A>G (p.Lys616Glu) rs772091430 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.536A>G (p.Asn179Ser) rs202004084 0.00002
NM_005908.4(MANBA):c.778A>G (p.Thr260Ala) rs762887276 0.00002
NM_005908.4(MANBA):c.818G>A (p.Arg273Lys) rs774776210 0.00002
NM_005908.4(MANBA):c.*184A>G rs886058967 0.00001
NM_005908.4(MANBA):c.1057A>G (p.Lys353Glu) rs779705524 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.1113-3C>T rs919183854 0.00001
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp) rs369478532 0.00001
NM_005908.4(MANBA):c.1300G>A (p.Ala434Thr) rs753441236 0.00001
NM_005908.4(MANBA):c.1382C>T (p.Ala461Val) rs775701916 0.00001
NM_005908.4(MANBA):c.1403A>G (p.His468Arg) rs776769550 0.00001
NM_005908.4(MANBA):c.1421G>A (p.Arg474Gln) rs779506935 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.1610T>A (p.Ile537Asn) rs558710124 0.00001
NM_005908.4(MANBA):c.1746A>T (p.Ser582=) rs1730293546 0.00001
NM_005908.4(MANBA):c.1865C>T (p.Thr622Ile) rs201866934 0.00001
NM_005908.4(MANBA):c.1927G>A (p.Glu643Lys) rs1167564128 0.00001
NM_005908.4(MANBA):c.1952C>T (p.Thr651Met) rs774565122 0.00001
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=) rs180816849 0.00001
NM_005908.4(MANBA):c.2207C>T (p.Thr736Ile) rs202100945 0.00001
NM_005908.4(MANBA):c.2470G>A (p.Val824Ile) rs1246857426 0.00001
NM_005908.4(MANBA):c.2542G>A (p.Glu848Lys) rs536554772 0.00001
NM_005908.4(MANBA):c.2632A>G (p.Ile878Val) rs1409396131 0.00001
NM_005908.4(MANBA):c.469G>C (p.Ala157Pro) rs768261895 0.00001
NM_005908.4(MANBA):c.617G>A (p.Arg206Lys) rs756414140 0.00001
NM_005908.4(MANBA):c.649T>C (p.Tyr217His) rs757677635 0.00001
NM_005908.4(MANBA):c.700G>A (p.Glu234Lys) rs762976551 0.00001
NM_005908.4(MANBA):c.847A>C (p.Lys283Gln) rs777309946 0.00001
NM_005908.4(MANBA):c.935G>C (p.Gly312Ala) rs1483686622 0.00001
NC_000004.12:g.(?_102650517)_(102726703_?)del
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.1073T>C (p.Ile358Thr) rs2110226355
NM_005908.4(MANBA):c.1097G>C (p.Arg366Pro)
NM_005908.4(MANBA):c.1115T>C (p.Leu372Ser)
NM_005908.4(MANBA):c.1118G>A (p.Arg373Gln)
NM_005908.4(MANBA):c.1223G>T (p.Gly408Val)
NM_005908.4(MANBA):c.1230+12A>G
NM_005908.4(MANBA):c.1240G>A (p.Asp414Asn) rs2110220981
NM_005908.4(MANBA):c.1247T>G (p.Met416Arg)
NM_005908.4(MANBA):c.1255T>C (p.Cys419Arg)
NM_005908.4(MANBA):c.1319T>A (p.Ile440Asn)
NM_005908.4(MANBA):c.1352T>A (p.Ile451Lys)
NM_005908.4(MANBA):c.1376A>T (p.Glu459Val)
NM_005908.4(MANBA):c.1394A>G (p.Asn465Ser)
NM_005908.4(MANBA):c.1420C>T (p.Arg474Trp) rs141230920
NM_005908.4(MANBA):c.1434C>G (p.Ile478Met)
NM_005908.4(MANBA):c.1517G>A (p.Ser506Asn)
NM_005908.4(MANBA):c.1550C>T (p.Ala517Val)
NM_005908.4(MANBA):c.1589A>G (p.Asp530Gly)
NM_005908.4(MANBA):c.1649G>A (p.Arg550Gln) rs745958233
NM_005908.4(MANBA):c.1651T>C (p.Phe551Leu)
NM_005908.4(MANBA):c.1679G>T (p.Trp560Leu)
NM_005908.4(MANBA):c.1696T>G (p.Leu566Val)
NM_005908.4(MANBA):c.1726T>A (p.Ser576Thr)
NM_005908.4(MANBA):c.1754G>A (p.Arg585Gln) rs200033515
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu) rs200033515
NM_005908.4(MANBA):c.178-3C>T rs556686364
NM_005908.4(MANBA):c.1823G>A (p.Ser608Asn) rs1730287301
NM_005908.4(MANBA):c.1829A>C (p.Asp610Ala)
NM_005908.4(MANBA):c.1830T>A (p.Asp610Glu)
NM_005908.4(MANBA):c.1838G>A (p.Arg613His)
NM_005908.4(MANBA):c.1838G>T (p.Arg613Leu)
NM_005908.4(MANBA):c.1850A>C (p.Asp617Ala)
NM_005908.4(MANBA):c.1894A>C (p.Thr632Pro)
NM_005908.4(MANBA):c.1904A>G (p.Glu635Gly)
NM_005908.4(MANBA):c.1915C>T (p.Arg639Cys)
NM_005908.4(MANBA):c.1942C>A (p.Gln648Lys)
NM_005908.4(MANBA):c.1945G>T (p.Gly649Trp) rs1729796963
NM_005908.4(MANBA):c.194_214del (p.Phe65_Arg71del) rs1300919851
NM_005908.4(MANBA):c.1953G>A (p.Thr651=) rs886058968
NM_005908.4(MANBA):c.2018A>G (p.Tyr673Cys) rs1729616711
NM_005908.4(MANBA):c.2042A>G (p.His681Arg)
NM_005908.4(MANBA):c.2102C>G (p.Thr701Arg) rs2866413
NM_005908.4(MANBA):c.2135C>T (p.Ser712Leu)
NM_005908.4(MANBA):c.2144C>T (p.Ser715Leu)
NM_005908.4(MANBA):c.2167C>T (p.His723Tyr)
NM_005908.4(MANBA):c.2174G>C (p.Trp725Ser) rs2110188789
NM_005908.4(MANBA):c.2176A>T (p.Ser726Cys)
NM_005908.4(MANBA):c.2201G>A (p.Arg734His) rs143630504
NM_005908.4(MANBA):c.2201G>C (p.Arg734Pro)
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.2282G>C (p.Cys761Ser) rs538584064
NM_005908.4(MANBA):c.2311G>A (p.Val771Ile)
NM_005908.4(MANBA):c.2351C>T (p.Pro784Leu) rs116340501
NM_005908.4(MANBA):c.2356A>G (p.Asn786Asp)
NM_005908.4(MANBA):c.2357A>G (p.Asn786Ser) rs2110188500
NM_005908.4(MANBA):c.2358C>T (p.Asn786=) rs767182713
NM_005908.4(MANBA):c.2363A>T (p.His788Leu) rs2110188478
NM_005908.4(MANBA):c.2386del (p.Ala796fs)
NM_005908.4(MANBA):c.239A>G (p.Tyr80Cys)
NM_005908.4(MANBA):c.2401A>C (p.Lys801Gln) rs2110188388
NM_005908.4(MANBA):c.2405C>T (p.Ala802Val)
NM_005908.4(MANBA):c.2415+1G>C rs1284324018
NM_005908.4(MANBA):c.242G>A (p.Ser81Asn) rs372866446
NM_005908.4(MANBA):c.2471T>A (p.Val824Asp)
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr) rs182869272
NM_005908.4(MANBA):c.2489T>G (p.Leu830Trp) rs1729412034
NM_005908.4(MANBA):c.2516T>G (p.Phe839Cys) rs1382838664
NM_005908.4(MANBA):c.2536A>C (p.Met846Leu)
NM_005908.4(MANBA):c.2539A>C (p.Thr847Pro) rs2110185461
NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs) rs749997217
NM_005908.4(MANBA):c.2551C>T (p.Arg851Ter) rs200999022
NM_005908.4(MANBA):c.2561T>C (p.Leu854Ser)
NM_005908.4(MANBA):c.2630A>G (p.Asp877Gly) rs752396515
NM_005908.4(MANBA):c.280C>A (p.Gln94Lys)
NM_005908.4(MANBA):c.295A>G (p.Ile99Val)
NM_005908.4(MANBA):c.308T>C (p.Val103Ala)
NM_005908.4(MANBA):c.408C>G (p.Asp136Glu) rs779626922
NM_005908.4(MANBA):c.415T>C (p.Ser139Pro)
NM_005908.4(MANBA):c.427C>T (p.Arg143Cys)
NM_005908.4(MANBA):c.440C>T (p.Ala147Val)
NM_005908.4(MANBA):c.475A>G (p.Thr159Ala) rs2110193651
NM_005908.4(MANBA):c.482A>G (p.Tyr161Cys) rs939522322
NM_005908.4(MANBA):c.484C>G (p.Gln162Glu)
NM_005908.4(MANBA):c.487G>T (p.Val163Phe)
NM_005908.4(MANBA):c.492C>T (p.Pro164=) rs1722640489
NM_005908.4(MANBA):c.494C>T (p.Pro165Leu) rs941610876
NM_005908.4(MANBA):c.519G>T (p.Lys173Asn)
NM_005908.4(MANBA):c.520G>T (p.Gly174Cys) rs2110193570
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln) rs759103361
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg) rs1553951373
NM_005908.4(MANBA):c.599G>C (p.Gly200Ala) rs2110273623
NM_005908.4(MANBA):c.671A>G (p.Tyr224Cys)
NM_005908.4(MANBA):c.673+6C>A
NM_005908.4(MANBA):c.676A>G (p.Lys226Glu) rs750030697
NM_005908.4(MANBA):c.683C>T (p.Ala228Val)
NM_005908.4(MANBA):c.709T>C (p.Ser237Pro)
NM_005908.4(MANBA):c.746G>A (p.Gly249Asp) rs1732436667
NM_005908.4(MANBA):c.767C>G (p.Pro256Arg)
NM_005908.4(MANBA):c.811G>T (p.Gly271Trp)
NM_005908.4(MANBA):c.815A>G (p.Lys272Arg) rs957064535
NM_005908.4(MANBA):c.908T>A (p.Met303Lys) rs1171801333
NM_005908.4(MANBA):c.913G>A (p.Val305Ile) rs939795867
NM_005908.4(MANBA):c.950A>C (p.Lys317Thr)
NM_005908.4(MANBA):c.952T>A (p.Ser318Thr)
NM_005908.4(MANBA):c.958A>C (p.Lys320Gln)
NM_005908.4(MANBA):c.961-8C>A rs886058969
NM_005908.4(MANBA):c.973A>G (p.Thr325Ala)
NM_005908.4(MANBA):c.987A>G (p.Ile329Met)
NM_005908.4(MANBA):c.997A>G (p.Ile333Val)

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