ClinVar Miner

List of variants in gene MANBA reported as likely benign for Beta-D-mannosidosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 319
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.*521G>A rs138999320 0.00415
NM_005908.4(MANBA):c.478C>T (p.Arg160Cys) rs114543305 0.00255
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403 0.00173
NM_005908.4(MANBA):c.961G>T (p.Val321Phe) rs145367849 0.00106
NM_005908.4(MANBA):c.*437A>T rs80064803 0.00096
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_005908.4(MANBA):c.531T>C (p.His177=) rs149902075 0.00059
NM_005908.4(MANBA):c.792C>T (p.Tyr264=) rs141619070 0.00031
NM_005908.4(MANBA):c.1704+16A>G rs554780446 0.00014
NM_005908.4(MANBA):c.2416-9C>T rs200835097 0.00013
NM_005908.4(MANBA):c.1302A>G (p.Ala434=) rs376135201 0.00012
NM_005908.4(MANBA):c.726C>G (p.Val242=) rs376480030 0.00012
NM_005908.4(MANBA):c.530A>G (p.His177Arg) rs750914797 0.00011
NM_005908.4(MANBA):c.2601G>A (p.Glu867=) rs746506717 0.00010
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe) rs201779762 0.00008
NM_005908.4(MANBA):c.303G>A (p.Glu101=) rs113552770 0.00007
NM_005908.4(MANBA):c.2014+15G>A rs778364481 0.00006
NM_005908.4(MANBA):c.2379G>A (p.Pro793=) rs372595764 0.00006
NM_005908.4(MANBA):c.807A>G (p.Gln269=) rs151274894 0.00006
NM_005908.4(MANBA):c.178-10G>A rs376203233 0.00004
NM_005908.4(MANBA):c.2158-8C>T rs770698295 0.00004
NM_005908.4(MANBA):c.673+19T>C rs772893130 0.00004
NM_005908.4(MANBA):c.1317+14C>A rs200935345 0.00002
NM_005908.4(MANBA):c.2019C>T (p.Tyr673=) rs759861033 0.00002
NM_005908.4(MANBA):c.2416-9del rs1345228065 0.00002
NM_005908.4(MANBA):c.552G>A (p.Glu184=) rs1393310114 0.00002
NM_005908.4(MANBA):c.708G>A (p.Glu236=) rs769969734 0.00002
NM_005908.4(MANBA):c.1112+8A>C rs752741187 0.00001
NM_005908.4(MANBA):c.1112+9T>C rs528890323 0.00001
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp) rs369478532 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.420T>C (p.Ile140=) rs1258519531 0.00001
NM_005908.4(MANBA):c.674-9A>G rs753271164 0.00001
NM_005908.4(MANBA):c.690G>A (p.Glu230=) rs147662779 0.00001
NM_005908.4(MANBA):c.-58G>A rs548442432
NM_005908.4(MANBA):c.1002A>G (p.Lys334=)
NM_005908.4(MANBA):c.1047C>T (p.Pro349=)
NM_005908.4(MANBA):c.1086A>G (p.Ser362=)
NM_005908.4(MANBA):c.1098A>G (p.Arg366=)
NM_005908.4(MANBA):c.1107T>G (p.Ser369=)
NM_005908.4(MANBA):c.1112+10T>C
NM_005908.4(MANBA):c.1112+13C>T
NM_005908.4(MANBA):c.1112+17C>A
NM_005908.4(MANBA):c.1113-17T>C
NM_005908.4(MANBA):c.1113-6C>T
NM_005908.4(MANBA):c.1116A>G (p.Leu372=)
NM_005908.4(MANBA):c.1119G>T (p.Arg373=)
NM_005908.4(MANBA):c.1128A>G (p.Leu376=)
NM_005908.4(MANBA):c.1134T>A (p.Ser378=)
NM_005908.4(MANBA):c.1140G>A (p.Val380=)
NM_005908.4(MANBA):c.1143T>C (p.Asp381=)
NM_005908.4(MANBA):c.1149T>C (p.Asn383=)
NM_005908.4(MANBA):c.1164G>A (p.Arg388=)
NM_005908.4(MANBA):c.1164G>C (p.Arg388=)
NM_005908.4(MANBA):c.1173A>G (p.Gly391=)
NM_005908.4(MANBA):c.1176A>C (p.Gly392=)
NM_005908.4(MANBA):c.1188G>A (p.Glu396=)
NM_005908.4(MANBA):c.1230+13T>C
NM_005908.4(MANBA):c.1230+14A>G
NM_005908.4(MANBA):c.1230+15G>A
NM_005908.4(MANBA):c.1230+17A>G
NM_005908.4(MANBA):c.1230+9T>A
NM_005908.4(MANBA):c.1231-14A>G
NM_005908.4(MANBA):c.1231-16T>G
NM_005908.4(MANBA):c.1231-16_1231-15del
NM_005908.4(MANBA):c.1231-20C>G
NM_005908.4(MANBA):c.1231-6T>G
NM_005908.4(MANBA):c.1239G>A (p.Gln413=)
NM_005908.4(MANBA):c.1257T>C (p.Cys419=)
NM_005908.4(MANBA):c.1293A>G (p.Ser431=)
NM_005908.4(MANBA):c.1311C>T (p.Ala437=)
NM_005908.4(MANBA):c.1314C>T (p.Tyr438=)
NM_005908.4(MANBA):c.1317+12C>A
NM_005908.4(MANBA):c.1317+17C>T
NM_005908.4(MANBA):c.1318-13T>C
NM_005908.4(MANBA):c.1318-19_1318-18del
NM_005908.4(MANBA):c.1318-9A>C
NM_005908.4(MANBA):c.1383G>A (p.Ala461=)
NM_005908.4(MANBA):c.1384C>T (p.Leu462=)
NM_005908.4(MANBA):c.1386G>C (p.Leu462=)
NM_005908.4(MANBA):c.1395T>C (p.Asn465=)
NM_005908.4(MANBA):c.1413C>T (p.Phe471=)
NM_005908.4(MANBA):c.1428C>A (p.Ile476=)
NM_005908.4(MANBA):c.1443T>C (p.Tyr481=)
NM_005908.4(MANBA):c.1446G>A (p.Val482=)
NM_005908.4(MANBA):c.1473G>A (p.Glu491=)
NM_005908.4(MANBA):c.1480C>T (p.Leu494=)
NM_005908.4(MANBA):c.1485+18A>G
NM_005908.4(MANBA):c.1485+9T>A rs199592616
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1486-13T>C
NM_005908.4(MANBA):c.1486-15T>C
NM_005908.4(MANBA):c.1545A>G (p.Ala515=)
NM_005908.4(MANBA):c.1551C>G (p.Ala517=)
NM_005908.4(MANBA):c.1551C>T (p.Ala517=)
NM_005908.4(MANBA):c.1557C>G (p.Val519=) rs958430573
NM_005908.4(MANBA):c.1557C>T (p.Val519=)
NM_005908.4(MANBA):c.1563A>G (p.Gln521=)
NM_005908.4(MANBA):c.1572T>C (p.Asn524=) rs2110210086
NM_005908.4(MANBA):c.1575C>T (p.Ser525=)
NM_005908.4(MANBA):c.1581T>C (p.Tyr527=)
NM_005908.4(MANBA):c.1584T>C (p.Phe528=)
NM_005908.4(MANBA):c.1593A>G (p.Val531=)
NM_005908.4(MANBA):c.1596T>C (p.His532=)
NM_005908.4(MANBA):c.1605C>T (p.Asp535=)
NM_005908.4(MANBA):c.1638C>T (p.Phe546=)
NM_005908.4(MANBA):c.1653T>C (p.Phe551=)
NM_005908.4(MANBA):c.1668A>G (p.Gly556=)
NM_005908.4(MANBA):c.1683G>A (p.Pro561=)
NM_005908.4(MANBA):c.1686C>T (p.Ser562=)
NM_005908.4(MANBA):c.1689C>T (p.Phe563=)
NM_005908.4(MANBA):c.1695A>G (p.Thr565=)
NM_005908.4(MANBA):c.1704+11G>A
NM_005908.4(MANBA):c.1704+12T>A
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005908.4(MANBA):c.1705-14T>C
NM_005908.4(MANBA):c.1705-17T>C
NM_005908.4(MANBA):c.1710G>A (p.Ser570=)
NM_005908.4(MANBA):c.1734T>C (p.Asn578=)
NM_005908.4(MANBA):c.1737C>T (p.Ser579=)
NM_005908.4(MANBA):c.1764C>T (p.His588=)
NM_005908.4(MANBA):c.178-12T>C
NM_005908.4(MANBA):c.178-15A>G
NM_005908.4(MANBA):c.1794G>A (p.Gln598=)
NM_005908.4(MANBA):c.1800A>G (p.Gly600=)
NM_005908.4(MANBA):c.1827A>G (p.Thr609=)
NM_005908.4(MANBA):c.1839C>T (p.Arg613=)
NM_005908.4(MANBA):c.1851T>C (p.Asp617=) rs2110203050
NM_005908.4(MANBA):c.1854C>T (p.Thr618=)
NM_005908.4(MANBA):c.1869+17C>A
NM_005908.4(MANBA):c.1869+20G>A
NM_005908.4(MANBA):c.1869+8G>A
NM_005908.4(MANBA):c.1870-16T>C
NM_005908.4(MANBA):c.1870-5A>T
NM_005908.4(MANBA):c.1872G>A (p.Val624=)
NM_005908.4(MANBA):c.1878G>A (p.Gln626=)
NM_005908.4(MANBA):c.1881C>G (p.Ala627=)
NM_005908.4(MANBA):c.1905A>G (p.Glu635=)
NM_005908.4(MANBA):c.1917T>C (p.Arg639=)
NM_005908.4(MANBA):c.1920T>C (p.Ser640=)
NM_005908.4(MANBA):c.1926C>T (p.Ser642=)
NM_005908.4(MANBA):c.1944A>G (p.Gln648=)
NM_005908.4(MANBA):c.1947G>A (p.Gly649=)
NM_005908.4(MANBA):c.1953G>A (p.Thr651=) rs886058968
NM_005908.4(MANBA):c.1959G>A (p.Gly653=)
NM_005908.4(MANBA):c.1959G>C (p.Gly653=)
NM_005908.4(MANBA):c.1962A>G (p.Ala654=)
NM_005908.4(MANBA):c.1992A>G (p.Gln664=)
NM_005908.4(MANBA):c.2014+8T>C
NM_005908.4(MANBA):c.2015-11del
NM_005908.4(MANBA):c.2015-12G>T
NM_005908.4(MANBA):c.2015-16T>G
NM_005908.4(MANBA):c.2015-7T>C
NM_005908.4(MANBA):c.2046C>T (p.Tyr682=)
NM_005908.4(MANBA):c.2070A>G (p.Pro690=)
NM_005908.4(MANBA):c.2079A>G (p.Pro693=)
NM_005908.4(MANBA):c.2100C>T (p.Asn700=)
NM_005908.4(MANBA):c.2103G>A (p.Thr701=)
NM_005908.4(MANBA):c.2103G>T (p.Thr701=)
NM_005908.4(MANBA):c.210C>T (p.Tyr70=)
NM_005908.4(MANBA):c.2145G>A (p.Ser715=)
NM_005908.4(MANBA):c.2154C>G (p.Leu718=)
NM_005908.4(MANBA):c.2157+12G>A
NM_005908.4(MANBA):c.2157+17G>C
NM_005908.4(MANBA):c.2157+19T>A
NM_005908.4(MANBA):c.2157+8A>G
NM_005908.4(MANBA):c.2157+9C>T
NM_005908.4(MANBA):c.2158-10T>G
NM_005908.4(MANBA):c.2158-11T>C
NM_005908.4(MANBA):c.2158-14T>G
NM_005908.4(MANBA):c.2158-17G>A
NM_005908.4(MANBA):c.2158-5C>T
NM_005908.4(MANBA):c.2158-6C>G
NM_005908.4(MANBA):c.2158-6C>T
NM_005908.4(MANBA):c.2158-7T>A
NM_005908.4(MANBA):c.2158-9T>A
NM_005908.4(MANBA):c.2160G>A (p.Val720=)
NM_005908.4(MANBA):c.2178C>T (p.Ser726=)
NM_005908.4(MANBA):c.2181C>G (p.Ser727=)
NM_005908.4(MANBA):c.2190C>T (p.Pro730=)
NM_005908.4(MANBA):c.2193G>A (p.Val731=)
NM_005908.4(MANBA):c.2229A>C (p.Gly743=)
NM_005908.4(MANBA):c.2229A>T (p.Gly743=)
NM_005908.4(MANBA):c.2232A>C (p.Gly744=)
NM_005908.4(MANBA):c.2241C>T (p.Val747=)
NM_005908.4(MANBA):c.2244C>T (p.Cys748=)
NM_005908.4(MANBA):c.2247T>C (p.Leu749=)
NM_005908.4(MANBA):c.2253G>A (p.Glu751=)
NM_005908.4(MANBA):c.225G>A (p.Leu75=)
NM_005908.4(MANBA):c.2265T>C (p.Ser755=)
NM_005908.4(MANBA):c.2269T>C (p.Leu757=) rs774068992
NM_005908.4(MANBA):c.2296C>A (p.Arg766=)
NM_005908.4(MANBA):c.2298G>A (p.Arg766=)
NM_005908.4(MANBA):c.2310G>A (p.Val770=)
NM_005908.4(MANBA):c.2316C>G (p.Ser772=)
NM_005908.4(MANBA):c.2334C>T (p.Asp778=)
NM_005908.4(MANBA):c.2352G>A (p.Pro784=)
NM_005908.4(MANBA):c.2352G>T (p.Pro784=)
NM_005908.4(MANBA):c.2355C>T (p.Thr785=)
NM_005908.4(MANBA):c.2356A>G (p.Asn786Asp)
NM_005908.4(MANBA):c.2358C>T (p.Asn786=) rs767182713
NM_005908.4(MANBA):c.2388C>T (p.Ala796=)
NM_005908.4(MANBA):c.2403G>A (p.Lys801=)
NM_005908.4(MANBA):c.2406G>A (p.Ala802=) rs758859697
NM_005908.4(MANBA):c.2406G>T (p.Ala802=)
NM_005908.4(MANBA):c.2415+11G>A
NM_005908.4(MANBA):c.2415+11_2415+17dup
NM_005908.4(MANBA):c.2415+14A>T
NM_005908.4(MANBA):c.2415+15T>C
NM_005908.4(MANBA):c.2415+18C>T
NM_005908.4(MANBA):c.2416-19T>C
NM_005908.4(MANBA):c.2416-22_2416-18del rs2110185741
NM_005908.4(MANBA):c.2416-4T>C
NM_005908.4(MANBA):c.2433A>G (p.Gln811=)
NM_005908.4(MANBA):c.243C>T (p.Ser81=)
NM_005908.4(MANBA):c.2472C>A (p.Val824=)
NM_005908.4(MANBA):c.2472C>G (p.Val824=)
NM_005908.4(MANBA):c.2472C>T (p.Val824=)
NM_005908.4(MANBA):c.2478C>G (p.Pro826=)
NM_005908.4(MANBA):c.2488T>C (p.Leu830=)
NM_005908.4(MANBA):c.249A>G (p.Glu83=)
NM_005908.4(MANBA):c.2511G>A (p.Gly837=)
NM_005908.4(MANBA):c.2526T>C (p.Asn842=)
NM_005908.4(MANBA):c.2541T>C (p.Thr847=)
NM_005908.4(MANBA):c.2547G>A (p.Lys849=)
NM_005908.4(MANBA):c.2553A>G (p.Arg851=)
NM_005908.4(MANBA):c.2556T>A (p.Thr852=)
NM_005908.4(MANBA):c.2577G>A (p.Glu859=)
NM_005908.4(MANBA):c.258C>A (p.Ile86=)
NM_005908.4(MANBA):c.2592T>C (p.Asn864=) rs1578852747
NM_005908.4(MANBA):c.2595G>A (p.Glu865=)
NM_005908.4(MANBA):c.2613T>C (p.His871=)
NM_005908.4(MANBA):c.270T>A (p.Ile90=)
NM_005908.4(MANBA):c.272+13G>A
NM_005908.4(MANBA):c.272+15G>T
NM_005908.4(MANBA):c.272+16G>C
NM_005908.4(MANBA):c.272+17G>A
NM_005908.4(MANBA):c.272+17G>T
NM_005908.4(MANBA):c.272+7A>G
NM_005908.4(MANBA):c.273-10T>C
NM_005908.4(MANBA):c.273-11C>G
NM_005908.4(MANBA):c.273-11_273-7del
NM_005908.4(MANBA):c.273-7T>A
NM_005908.4(MANBA):c.273-9T>C
NM_005908.4(MANBA):c.285A>G (p.Lys95=)
NM_005908.4(MANBA):c.309G>A (p.Val103=)
NM_005908.4(MANBA):c.328C>T (p.Leu110=)
NM_005908.4(MANBA):c.357A>G (p.Thr119=)
NM_005908.4(MANBA):c.357A>T (p.Thr119=)
NM_005908.4(MANBA):c.360C>T (p.Asp120=)
NM_005908.4(MANBA):c.372T>C (p.Asn124=)
NM_005908.4(MANBA):c.378+14G>A
NM_005908.4(MANBA):c.378+15A>C
NM_005908.4(MANBA):c.378+15A>G
NM_005908.4(MANBA):c.378+16C>T
NM_005908.4(MANBA):c.378+17A>G
NM_005908.4(MANBA):c.378+19T>C
NM_005908.4(MANBA):c.378+7A>T
NM_005908.4(MANBA):c.378+9A>G
NM_005908.4(MANBA):c.379-14T>C
NM_005908.4(MANBA):c.379-16G>T
NM_005908.4(MANBA):c.396C>T (p.Asn132=)
NM_005908.4(MANBA):c.397G>A (p.Val133Met)
NM_005908.4(MANBA):c.408C>T (p.Asp136=)
NM_005908.4(MANBA):c.426G>A (p.Leu142=)
NM_005908.4(MANBA):c.441G>A (p.Ala147=)
NM_005908.4(MANBA):c.462G>A (p.Gln154=)
NM_005908.4(MANBA):c.480C>T (p.Arg160=)
NM_005908.4(MANBA):c.483C>T (p.Tyr161=)
NM_005908.4(MANBA):c.489T>C (p.Val163=)
NM_005908.4(MANBA):c.510T>A (p.Leu170=)
NM_005908.4(MANBA):c.540T>C (p.Phe180=)
NM_005908.4(MANBA):c.549+18A>G
NM_005908.4(MANBA):c.549+20G>A
NM_005908.4(MANBA):c.549+7G>A
NM_005908.4(MANBA):c.549+8T>C
NM_005908.4(MANBA):c.550-6T>C
NM_005908.4(MANBA):c.555A>G (p.Gln185=) rs1406663874
NM_005908.4(MANBA):c.564T>C (p.Phe188=)
NM_005908.4(MANBA):c.579G>A (p.Gly193=)
NM_005908.4(MANBA):c.597G>A (p.Gln199=) rs1213852355
NM_005908.4(MANBA):c.673+12G>A
NM_005908.4(MANBA):c.673+17G>A
NM_005908.4(MANBA):c.673+18A>G
NM_005908.4(MANBA):c.674-16T>C
NM_005908.4(MANBA):c.674-17T>C
NM_005908.4(MANBA):c.674-6T>A
NM_005908.4(MANBA):c.674-7A>G
NM_005908.4(MANBA):c.681T>C (p.Ser227=)
NM_005908.4(MANBA):c.735G>A (p.Lys245=)
NM_005908.4(MANBA):c.756C>T (p.Ile252=)
NM_005908.4(MANBA):c.759A>C (p.Val253=)
NM_005908.4(MANBA):c.762C>T (p.Ala254=)
NM_005908.4(MANBA):c.771G>A (p.Lys257=)
NM_005908.4(MANBA):c.774G>A (p.Leu258=)
NM_005908.4(MANBA):c.780A>T (p.Thr260=) rs1318996389
NM_005908.4(MANBA):c.822T>C (p.Ile274=)
NM_005908.4(MANBA):c.828G>A (p.Glu276=)
NM_005908.4(MANBA):c.843T>C (p.Ile281=)
NM_005908.4(MANBA):c.849+13del
NM_005908.4(MANBA):c.849+8A>G
NM_005908.4(MANBA):c.850-10T>C
NM_005908.4(MANBA):c.850-18T>G
NM_005908.4(MANBA):c.850-19T>C
NM_005908.4(MANBA):c.850-5A>T
NM_005908.4(MANBA):c.885T>C (p.His295=)
NM_005908.4(MANBA):c.891C>T (p.Asn297=)
NM_005908.4(MANBA):c.897T>G (p.Thr299=)
NM_005908.4(MANBA):c.921T>C (p.Phe307=)
NM_005908.4(MANBA):c.925C>T (p.Leu309=)
NM_005908.4(MANBA):c.930T>C (p.Asp310=)
NM_005908.4(MANBA):c.936C>T (p.Gly312=)
NM_005908.4(MANBA):c.954A>G (p.Ser318=)
NM_005908.4(MANBA):c.960+14T>A
NM_005908.4(MANBA):c.960+19A>C
NM_005908.4(MANBA):c.960+9G>A
NM_005908.4(MANBA):c.961-16A>C

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