ClinVar Miner

List of variants reported as uncertain significance for Beta-D-mannosidosis by Invitae

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ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
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.1573A>G (p.Ser525Gly) rs138216864 0.00013
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.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.124G>A (p.Gly42Arg) rs776864457 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.163C>G (p.Gln55Glu) rs758643729 0.00003
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn) rs376012848 0.00003
NM_005908.4(MANBA):c.61C>T (p.Leu21Phe) rs139936532 0.00003
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.778A>G (p.Thr260Ala) rs762887276 0.00002
NM_005908.4(MANBA):c.818G>A (p.Arg273Lys) rs774776210 0.00002
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.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.1403A>G (p.His468Arg) rs776769550 0.00001
NM_005908.4(MANBA):c.1421G>A (p.Arg474Gln) rs779506935 0.00001
NM_005908.4(MANBA):c.1610T>A (p.Ile537Asn) rs558710124 0.00001
NM_005908.4(MANBA):c.177+4T>C rs755493385 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.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.50C>T (p.Thr17Ile) rs765795629 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.-13_112del (p.Met1fs)
NM_005908.4(MANBA):c.106G>A (p.Gly36Ser)
NM_005908.4(MANBA):c.1073T>C (p.Ile358Thr) rs2110226355
NM_005908.4(MANBA):c.1097G>C (p.Arg366Pro)
NM_005908.4(MANBA):c.10C>T (p.His4Tyr)
NM_005908.4(MANBA):c.110C>T (p.Ser37Leu)
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.130G>A (p.Val44Ile) rs1432738569
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.1572T>C (p.Asn524=) rs2110210086
NM_005908.4(MANBA):c.1589A>G (p.Asp530Gly)
NM_005908.4(MANBA):c.1649G>A (p.Arg550Gln) rs745958233
NM_005908.4(MANBA):c.1679G>T (p.Trp560Leu)
NM_005908.4(MANBA):c.1696T>G (p.Leu566Val)
NM_005908.4(MANBA):c.169C>A (p.Leu57Met) rs1349054936
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.177+3A>G rs2110217534
NM_005908.4(MANBA):c.177+4T>A
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.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.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.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.2363A>T (p.His788Leu) rs2110188478
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.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.37G>A (p.Gly13Ser)
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.494C>T (p.Pro165Leu) rs941610876
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.55G>A (p.Ala19Thr)
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.767C>G (p.Pro256Arg)
NM_005908.4(MANBA):c.80G>A (p.Gly27Asp)
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.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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