ClinVar Miner

List of variants in gene MANBA studied for Beta-D-mannosidosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 591
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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.2015-28G>A rs4547797 0.55331
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.478C>T (p.Arg160Cys) rs114543305 0.00255
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.2180C>T (p.Ser727Phe) rs147437033 0.00195
NM_005908.4(MANBA):c.2416-9C>T rs200835097 0.00195
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.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.2014+14C>T rs192469727 0.00056
NM_005908.4(MANBA):c.2415+19G>A rs148719555 0.00054
NM_005908.4(MANBA):c.792C>T (p.Tyr264=) rs141619070 0.00031
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.1704+16A>G rs554780446 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.1302A>G (p.Ala434=) rs376135201 0.00012
NM_005908.4(MANBA):c.726C>G (p.Val242=) rs376480030 0.00012
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.530A>G (p.His177Arg) rs750914797 0.00011
NM_005908.4(MANBA):c.849+13A>C rs76954465 0.00011
NM_005908.4(MANBA):c.1025A>G (p.Tyr342Cys) rs771658981 0.00010
NM_005908.4(MANBA):c.2601G>A (p.Glu867=) rs746506717 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.303G>A (p.Glu101=) rs113552770 0.00007
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
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.418A>G (p.Ile140Val) rs572164146 0.00006
NM_005908.4(MANBA):c.807A>G (p.Gln269=) rs151274894 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.1318-1G>T rs374545788 0.00004
NM_005908.4(MANBA):c.1430A>G (p.Tyr477Cys) rs200133664 0.00004
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.2378C>T (p.Pro793Leu) rs376410219 0.00004
NM_005908.4(MANBA):c.347T>C (p.Ile116Thr) rs775841860 0.00004
NM_005908.4(MANBA):c.673+19T>C rs772893130 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.2019C>T (p.Tyr673=) rs759861033 0.00002
NM_005908.4(MANBA):c.2158-2A>G rs772852668 0.00002
NM_005908.4(MANBA):c.2389G>A (p.Val797Met) rs747236675 0.00002
NM_005908.4(MANBA):c.2416-9del rs1345228065 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.544C>T (p.Arg182Trp) rs374377679 0.00002
NM_005908.4(MANBA):c.550-1G>A rs760404534 0.00002
NM_005908.4(MANBA):c.552G>A (p.Glu184=) rs1393310114 0.00002
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter) rs763849774 0.00002
NM_005908.4(MANBA):c.708G>A (p.Glu236=) rs769969734 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.1112+9T>C rs528890323 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.1434del (p.Lys479fs) rs776601022 0.00001
NM_005908.4(MANBA):c.1477G>A (p.Val493Ile) rs561172083 0.00001
NM_005908.4(MANBA):c.1512G>A (p.Thr504=) rs143694332 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.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_005908.4(MANBA):c.1628G>A (p.Trp543Ter) rs1309076303 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.2352_2356del (p.Thr785fs) rs1341763493 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.279G>A (p.Trp93Ter) rs1035305358 0.00001
NM_005908.4(MANBA):c.375A>G (p.Arg125=) rs771587242 0.00001
NM_005908.4(MANBA):c.420T>C (p.Ile140=) rs1258519531 0.00001
NM_005908.4(MANBA):c.469G>C (p.Ala157Pro) rs768261895 0.00001
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer) rs752343321 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.674-9A>G rs753271164 0.00001
NM_005908.4(MANBA):c.690G>A (p.Glu230=) rs147662779 0.00001
NM_005908.4(MANBA):c.700G>A (p.Glu234Lys) rs762976551 0.00001
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter) rs1553948361 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
NM_005908.4(MANBA):c.960+1G>A rs890870104 0.00001
NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del
NC_000004.11:g.(?_103635575)_(103635738_?)dup
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.-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.1073T>C (p.Ile358Thr) rs2110226355
NM_005908.4(MANBA):c.1086A>G (p.Ser362=)
NM_005908.4(MANBA):c.1096C>T (p.Arg366Ter)
NM_005908.4(MANBA):c.1097G>C (p.Arg366Pro)
NM_005908.4(MANBA):c.1098A>G (p.Arg366=)
NM_005908.4(MANBA):c.1101_1111del (p.Thr368fs)
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.1112+1G>T
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.1118G>A (p.Arg373Gln)
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.1153_1162del (p.Asn385fs)
NM_005908.4(MANBA):c.1156_1157del (p.Thr386fs)
NM_005908.4(MANBA):c.1162C>T (p.Arg388Trp)
NM_005908.4(MANBA):c.1164G>A (p.Arg388=)
NM_005908.4(MANBA):c.1164G>C (p.Arg388=)
NM_005908.4(MANBA):c.1169G>A (p.Trp390Ter)
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.1223G>T (p.Gly408Val)
NM_005908.4(MANBA):c.1230+12A>G
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.1231-1G>A
NM_005908.4(MANBA):c.1231-20C>G
NM_005908.4(MANBA):c.1231-6T>G
NM_005908.4(MANBA):c.1234dup (p.Trp412fs)
NM_005908.4(MANBA):c.1235G>A (p.Trp412Ter)
NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter) rs1553945794
NM_005908.4(MANBA):c.1239G>A (p.Gln413=)
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.1257T>C (p.Cys419=)
NM_005908.4(MANBA):c.1276C>T (p.Gln426Ter) rs121434336
NM_005908.4(MANBA):c.1293A>G (p.Ser431=)
NM_005908.4(MANBA):c.1311C>T (p.Ala437=)
NM_005908.4(MANBA):c.1312del (p.Tyr438fs)
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.1318-13del
NM_005908.4(MANBA):c.1318-19_1318-18del
NM_005908.4(MANBA):c.1318-9A>C
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.1383G>A (p.Ala461=)
NM_005908.4(MANBA):c.1384C>T (p.Leu462=)
NM_005908.4(MANBA):c.1394A>G (p.Asn465Ser)
NM_005908.4(MANBA):c.1395T>C (p.Asn465=)
NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter) rs1208178394
NM_005908.4(MANBA):c.1413C>T (p.Phe471=)
NM_005908.4(MANBA):c.1420C>T (p.Arg474Trp) rs141230920
NM_005908.4(MANBA):c.1422_1477dup (p.Val493delinsGlyGlnSerThrSerArgThrMetTer)
NM_005908.4(MANBA):c.1428C>A (p.Ile476=)
NM_005908.4(MANBA):c.1434C>G (p.Ile478Met)
NM_005908.4(MANBA):c.1443T>C (p.Tyr481=)
NM_005908.4(MANBA):c.1446G>A (p.Val482=)
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs) rs764364492
NM_005908.4(MANBA):c.1453dup (p.Tyr485fs)
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs) rs1188116333
NM_005908.4(MANBA):c.1470del (p.Glu491fs)
NM_005908.4(MANBA):c.1473G>A (p.Glu491=)
NM_005908.4(MANBA):c.1480C>T (p.Leu494=)
NM_005908.4(MANBA):c.1485+16del rs2110216761
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.1513T>C (p.Ser505Pro) rs121434334
NM_005908.4(MANBA):c.1517G>A (p.Ser506Asn)
NM_005908.4(MANBA):c.1534G>T (p.Glu512Ter)
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.1545A>G (p.Ala515=)
NM_005908.4(MANBA):c.1550C>T (p.Ala517Val)
NM_005908.4(MANBA):c.1551C>G (p.Ala517=)
NM_005908.4(MANBA):c.1551C>T (p.Ala517=)
NM_005908.4(MANBA):c.1553G>A (p.Trp518Ter)
NM_005908.4(MANBA):c.1557C>G (p.Val519=) rs958430573
NM_005908.4(MANBA):c.1557C>T (p.Val519=)
NM_005908.4(MANBA):c.1561C>T (p.Gln521Ter)
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>A (p.Tyr527Ter)
NM_005908.4(MANBA):c.1581T>C (p.Tyr527=)
NM_005908.4(MANBA):c.1584T>C (p.Phe528=)
NM_005908.4(MANBA):c.1589A>G (p.Asp530Gly)
NM_005908.4(MANBA):c.1593A>G (p.Val531=)
NM_005908.4(MANBA):c.1605C>T (p.Asp535=)
NM_005908.4(MANBA):c.1623G>A (p.Trp541Ter)
NM_005908.4(MANBA):c.1638C>T (p.Phe546=)
NM_005908.4(MANBA):c.1644del (p.Ala549fs)
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)
NM_005908.4(MANBA):c.1649G>A (p.Arg550Gln) rs745958233
NM_005908.4(MANBA):c.1649del (p.Arg550fs)
NM_005908.4(MANBA):c.1653T>C (p.Phe551=)
NM_005908.4(MANBA):c.1668A>G (p.Gly556=)
NM_005908.4(MANBA):c.1679G>T (p.Trp560Leu)
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.1696T>G (p.Leu566Val)
NM_005908.4(MANBA):c.1704+10C>T
NM_005908.4(MANBA):c.1704+11G>A
NM_005908.4(MANBA):c.1704+12T>A
NM_005908.4(MANBA):c.1704+1G>T
NM_005908.4(MANBA):c.1705-13C>A rs34754408
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.1705-1G>A rs1730296951
NM_005908.4(MANBA):c.1705-2A>G
NM_005908.4(MANBA):c.1710G>A (p.Ser570=)
NM_005908.4(MANBA):c.1724G>A (p.Trp575Ter)
NM_005908.4(MANBA):c.1726T>A (p.Ser576Thr)
NM_005908.4(MANBA):c.1733del (p.Asn578fs)
NM_005908.4(MANBA):c.1734T>C (p.Asn578=)
NM_005908.4(MANBA):c.1737C>T (p.Ser579=)
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
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.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.178-2A>G
NM_005908.4(MANBA):c.178-3C>T rs556686364
NM_005908.4(MANBA):c.1794G>A (p.Gln598=)
NM_005908.4(MANBA):c.1800A>G (p.Gly600=)
NM_005908.4(MANBA):c.1823G>A (p.Ser608Asn) rs1730287301
NM_005908.4(MANBA):c.1827A>G (p.Thr609=)
NM_005908.4(MANBA):c.1829A>C (p.Asp610Ala)
NM_005908.4(MANBA):c.1830T>A (p.Asp610Glu)
NM_005908.4(MANBA):c.1836dup (p.Arg613fs)
NM_005908.4(MANBA):c.1838G>A (p.Arg613His)
NM_005908.4(MANBA):c.1838G>T (p.Arg613Leu)
NM_005908.4(MANBA):c.1839C>T (p.Arg613=)
NM_005908.4(MANBA):c.1850A>C (p.Asp617Ala)
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.1894A>C (p.Thr632Pro)
NM_005908.4(MANBA):c.1904A>G (p.Glu635Gly)
NM_005908.4(MANBA):c.1905A>G (p.Glu635=)
NM_005908.4(MANBA):c.1915C>T (p.Arg639Cys)
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.1942C>A (p.Gln648Lys)
NM_005908.4(MANBA):c.1944A>G (p.Gln648=)
NM_005908.4(MANBA):c.1945G>T (p.Gly649Trp) rs1729796963
NM_005908.4(MANBA):c.1947G>A (p.Gly649=)
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.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.2015-1G>A
NM_005908.4(MANBA):c.2015-7T>C
NM_005908.4(MANBA):c.2018A>G (p.Tyr673Cys) rs1729616711
NM_005908.4(MANBA):c.2030G>A (p.Trp677Ter) rs371368353
NM_005908.4(MANBA):c.2042A>G (p.His681Arg)
NM_005908.4(MANBA):c.2046C>T (p.Tyr682=)
NM_005908.4(MANBA):c.2057del (p.Asn686fs)
NM_005908.4(MANBA):c.2070A>G (p.Pro690=)
NM_005908.4(MANBA):c.2072del (p.Leu691fs)
NM_005908.4(MANBA):c.2079A>G (p.Pro693=)
NM_005908.4(MANBA):c.2100C>T (p.Asn700=)
NM_005908.4(MANBA):c.2101_2102insTGTGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGAATGAAAACA (p.Thr701delinsMetTer)
NM_005908.4(MANBA):c.2102C>G (p.Thr701Arg) rs2866413
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2102_2103insAT (p.Phe702fs)
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.2144C>T (p.Ser715Leu)
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.2158-14T>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.2161A>T (p.Arg721Ter)
NM_005908.4(MANBA):c.2167C>T (p.His723Tyr)
NM_005908.4(MANBA):c.2174G>C (p.Trp725Ser) rs2110188789
NM_005908.4(MANBA):c.2175dup (p.Ser726fs) rs771465504
NM_005908.4(MANBA):c.2176A>T (p.Ser726Cys)
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.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.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>A (p.Cys748Ter)
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.2282G>C (p.Cys761Ser) rs538584064
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.2311G>A (p.Val771Ile)
NM_005908.4(MANBA):c.2316C>G (p.Ser772=)
NM_005908.4(MANBA):c.2333_2334del (p.Asp778fs)
NM_005908.4(MANBA):c.2334C>T (p.Asp778=)
NM_005908.4(MANBA):c.2351C>T (p.Pro784Leu) rs116340501
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.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.2388C>T (p.Ala796=)
NM_005908.4(MANBA):c.239A>G (p.Tyr80Cys)
NM_005908.4(MANBA):c.2401A>C (p.Lys801Gln) rs2110188388
NM_005908.4(MANBA):c.2403G>A (p.Lys801=)
NM_005908.4(MANBA):c.2405C>T (p.Ala802Val)
NM_005908.4(MANBA):c.2406G>A (p.Ala802=) rs758859697
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.2415+1G>C rs1284324018
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_005908.4(MANBA):c.2416-11_2416-10del rs5860729
NM_005908.4(MANBA):c.2416-19T>C
NM_005908.4(MANBA):c.2416-20dup rs5860729
NM_005908.4(MANBA):c.2416-22_2416-18del rs2110185741
NM_005908.4(MANBA):c.2416-4T>C
NM_005908.4(MANBA):c.242G>A (p.Ser81Asn) rs372866446
NM_005908.4(MANBA):c.2433A>G (p.Gln811=)
NM_005908.4(MANBA):c.243C>T (p.Ser81=)
NM_005908.4(MANBA):c.2471T>A (p.Val824Asp)
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.2473G>A (p.Ala825Thr) rs182869272
NM_005908.4(MANBA):c.2473G>T (p.Ala825Ser) rs182869272
NM_005908.4(MANBA):c.247G>T (p.Glu83Ter) rs121434335
NM_005908.4(MANBA):c.2488T>C (p.Leu830=)
NM_005908.4(MANBA):c.2489T>G (p.Leu830Trp) rs1729412034
NM_005908.4(MANBA):c.249A>G (p.Glu83=)
NM_005908.4(MANBA):c.2511G>A (p.Gly837=)
NM_005908.4(MANBA):c.2516T>G (p.Phe839Cys) rs1382838664
NM_005908.4(MANBA):c.2526T>C (p.Asn842=)
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.2547G>A (p.Lys849=)
NM_005908.4(MANBA):c.2551C>T (p.Arg851Ter) rs200999022
NM_005908.4(MANBA):c.2553A>G (p.Arg851=)
NM_005908.4(MANBA):c.2556T>A (p.Thr852=)
NM_005908.4(MANBA):c.2561T>C (p.Leu854Ser)
NM_005908.4(MANBA):c.2577G>A (p.Glu859=)
NM_005908.4(MANBA):c.2592T>C (p.Asn864=) rs1578852747
NM_005908.4(MANBA):c.2613T>C (p.His871=)
NM_005908.4(MANBA):c.2630A>G (p.Asp877Gly) rs752396515
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+2T>C
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.273-1G>A
NM_005908.4(MANBA):c.273-3del
NM_005908.4(MANBA):c.273-3dup
NM_005908.4(MANBA):c.273-7T>A
NM_005908.4(MANBA):c.273-9T>C
NM_005908.4(MANBA):c.280C>A (p.Gln94Lys)
NM_005908.4(MANBA):c.285A>G (p.Lys95=)
NM_005908.4(MANBA):c.295A>G (p.Ile99Val)
NM_005908.4(MANBA):c.308T>C (p.Val103Ala)
NM_005908.4(MANBA):c.309G>A (p.Val103=)
NM_005908.4(MANBA):c.320C>A (p.Ser107Ter)
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+2T>C
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.386del (p.Asp129fs)
NM_005908.4(MANBA):c.396C>T (p.Asn132=)
NM_005908.4(MANBA):c.397G>A (p.Val133Met)
NM_005908.4(MANBA):c.408C>G (p.Asp136Glu) rs779626922
NM_005908.4(MANBA):c.408C>T (p.Asp136=)
NM_005908.4(MANBA):c.415T>C (p.Ser139Pro)
NM_005908.4(MANBA):c.426G>A (p.Leu142=)
NM_005908.4(MANBA):c.427C>T (p.Arg143Cys)
NM_005908.4(MANBA):c.440C>T (p.Ala147Val)
NM_005908.4(MANBA):c.441G>A (p.Ala147=)
NM_005908.4(MANBA):c.462G>A (p.Gln154=)
NM_005908.4(MANBA):c.475A>G (p.Thr159Ala) rs2110193651
NM_005908.4(MANBA):c.480C>T (p.Arg160=)
NM_005908.4(MANBA):c.482A>G (p.Tyr161Cys) rs939522322
NM_005908.4(MANBA):c.483C>T (p.Tyr161=)
NM_005908.4(MANBA):c.484C>G (p.Gln162Glu)
NM_005908.4(MANBA):c.487G>T (p.Val163Phe)
NM_005908.4(MANBA):c.489T>C (p.Val163=)
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.510T>A (p.Leu170=)
NM_005908.4(MANBA):c.520G>T (p.Gly174Cys) rs2110193570
NM_005908.4(MANBA):c.540T>C (p.Phe180=)
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln) rs759103361
NM_005908.4(MANBA):c.547A>T (p.Lys183Ter)
NM_005908.4(MANBA):c.549+18A>G
NM_005908.4(MANBA):c.549+1G>A rs1334537145
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.564T>C (p.Phe188=)
NM_005908.4(MANBA):c.579G>A (p.Gly193=)
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg) rs1553951373
NM_005908.4(MANBA):c.597G>A (p.Gln199=) rs1213852355
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+12G>A
NM_005908.4(MANBA):c.673+17G>A
NM_005908.4(MANBA):c.673+18A>G
NM_005908.4(MANBA):c.673+1G>A
NM_005908.4(MANBA):c.673+6C>A
NM_005908.4(MANBA):c.674-16T>C
NM_005908.4(MANBA):c.674-17T>C
NM_005908.4(MANBA):c.674-1G>C
NM_005908.4(MANBA):c.674-2A>G
NM_005908.4(MANBA):c.674-6T>A
NM_005908.4(MANBA):c.674-7A>G
NM_005908.4(MANBA):c.676A>G (p.Lys226Glu) rs750030697
NM_005908.4(MANBA):c.677del (p.Lys226fs)
NM_005908.4(MANBA):c.681T>C (p.Ser227=)
NM_005908.4(MANBA):c.683C>T (p.Ala228Val)
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter)
NM_005908.4(MANBA):c.735G>A (p.Lys245=)
NM_005908.4(MANBA):c.746G>A (p.Gly249Asp) rs1732436667
NM_005908.4(MANBA):c.748C>T (p.Gln250Ter)
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.767C>G (p.Pro256Arg)
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.780dup (p.Gln261fs)
NM_005908.4(MANBA):c.781C>T (p.Gln261Ter)
NM_005908.4(MANBA):c.784C>T (p.Gln262Ter)
NM_005908.4(MANBA):c.811G>T (p.Gly271Trp)
NM_005908.4(MANBA):c.815A>G (p.Lys272Arg) rs957064535
NM_005908.4(MANBA):c.819del (p.Ile274fs)
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.870G>A (p.Trp290Ter)
NM_005908.4(MANBA):c.873G>A (p.Trp291Ter)
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.908T>A (p.Met303Lys) rs1171801333
NM_005908.4(MANBA):c.913G>A (p.Val305Ile) rs939795867
NM_005908.4(MANBA):c.916del (p.Leu306fs)
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.950A>C (p.Lys317Thr)
NM_005908.4(MANBA):c.952T>A (p.Ser318Thr)
NM_005908.4(MANBA):c.954A>G (p.Ser318=)
NM_005908.4(MANBA):c.958A>C (p.Lys320Gln)
NM_005908.4(MANBA):c.960+19A>C
NM_005908.4(MANBA):c.960+9G>A
NM_005908.4(MANBA):c.961-16A>C
NM_005908.4(MANBA):c.961-2A>C rs1411236177
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)

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.