ClinVar Miner

List of variants in gene MAN1B1 studied for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 355
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_016219.5(MAN1B1):c.*384A>G rs4567 0.49708
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962 0.02913
NM_016219.5(MAN1B1):c.*157C>G rs61545361 0.02001
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585 0.01884
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515 0.01096
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532 0.01076
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly) rs115335100 0.00943
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=) rs113472164 0.00639
NM_016219.5(MAN1B1):c.*223G>A rs141959719 0.00488
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=) rs140105878 0.00457
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549 0.00445
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_016219.5(MAN1B1):c.1713C>T (p.Ile571=) rs12000048 0.00411
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=) rs114484315 0.00344
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=) rs75234317 0.00330
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=) rs115889896 0.00329
NM_016219.5(MAN1B1):c.1896+7A>G rs143544706 0.00329
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=) rs77684216 0.00327
NM_016219.5(MAN1B1):c.220-20A>C rs116149955 0.00326
NM_016219.5(MAN1B1):c.1897-12G>A rs76740252 0.00322
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_016219.5(MAN1B1):c.1065+16T>A rs200957986 0.00303
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=) rs141112920 0.00215
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=) rs144271949 0.00210
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_016219.5(MAN1B1):c.*393A>G rs575316488 0.00170
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) rs145704211 0.00151
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_016219.5(MAN1B1):c.272C>T (p.Ala91Val) rs138411911 0.00135
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965 0.00135
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu) rs147577332 0.00118
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His) rs145477274 0.00085
NM_016219.5(MAN1B1):c.1095C>T (p.Ala365=) rs144304981 0.00083
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_016219.5(MAN1B1):c.1765-17C>T rs569907992 0.00064
NM_016219.5(MAN1B1):c.1744C>T (p.Arg582Cys) rs142406504 0.00046
NM_016219.5(MAN1B1):c.1287C>T (p.His429=) rs145524720 0.00038
NM_016219.5(MAN1B1):c.*292G>A rs145815566 0.00034
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met) rs200428790 0.00029
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=) rs112434939 0.00026
NM_016219.5(MAN1B1):c.862G>A (p.Gly288Ser) rs138090529 0.00026
NM_016219.5(MAN1B1):c.1445+19C>T rs374413288 0.00024
NM_016219.5(MAN1B1):c.881C>T (p.Ala294Val) rs144767615 0.00024
NM_016219.5(MAN1B1):c.*553A>G rs754678273 0.00016
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110 0.00016
NM_016219.5(MAN1B1):c.2091C>G (p.Thr697=) rs749762302 0.00016
NM_016219.5(MAN1B1):c.514C>T (p.Pro172Ser) rs142144025 0.00016
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His) rs374247020 0.00014
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=) rs377461918 0.00013
NM_016219.5(MAN1B1):c.770T>C (p.Phe257Ser) rs768668950 0.00013
NM_016219.5(MAN1B1):c.1674G>A (p.Gln558=) rs374793603 0.00012
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_016219.5(MAN1B1):c.768C>T (p.Val256=) rs145906530 0.00012
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val) rs144672735 0.00011
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys) rs373430024 0.00011
NM_016219.5(MAN1B1):c.1011G>C (p.Gly337=) rs142836717 0.00009
NM_016219.5(MAN1B1):c.1753G>A (p.Val585Met) rs150734795 0.00009
NM_016219.5(MAN1B1):c.621-5C>T rs200585294 0.00009
NM_016219.5(MAN1B1):c.731-4C>T rs368940533 0.00009
NM_016219.5(MAN1B1):c.1738C>G (p.Pro580Ala) rs200860565 0.00008
NM_016219.5(MAN1B1):c.1065+11T>C rs200147487 0.00007
NM_016219.5(MAN1B1):c.711C>T (p.Ala237=) rs781675627 0.00007
NM_016219.5(MAN1B1):c.*113G>A rs762819985 0.00006
NM_016219.5(MAN1B1):c.*86C>T rs771691552 0.00006
NM_016219.5(MAN1B1):c.1236A>G (p.Thr412=) rs754708614 0.00006
NM_016219.5(MAN1B1):c.1299G>C (p.Gly433=) rs201942029 0.00006
NM_016219.5(MAN1B1):c.1445+10G>A rs200441545 0.00006
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser) rs375378489 0.00006
NM_016219.5(MAN1B1):c.1765-9C>T rs977693376 0.00006
NM_016219.5(MAN1B1):c.1828G>A (p.Val610Ile) rs143449562 0.00006
NM_016219.5(MAN1B1):c.874A>G (p.Ile292Val) rs573043401 0.00006
NM_016219.5(MAN1B1):c.*185T>G rs137960366 0.00005
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys) rs387906886 0.00005
NM_016219.5(MAN1B1):c.689C>T (p.Thr230Ile) rs199561708 0.00005
NM_016219.5(MAN1B1):c.*191G>A rs1035235945 0.00004
NM_016219.5(MAN1B1):c.1180A>G (p.Thr394Ala) rs369551783 0.00004
NM_016219.5(MAN1B1):c.1321A>G (p.Met441Val) rs752395239 0.00004
NM_016219.5(MAN1B1):c.1507G>A (p.Glu503Lys) rs757690679 0.00004
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=) rs372125925 0.00004
NM_016219.5(MAN1B1):c.2079G>A (p.Leu693=) rs558619741 0.00004
NM_016219.5(MAN1B1):c.2080C>G (p.Pro694Ala) rs575503145 0.00004
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=) rs199738190 0.00004
NM_016219.5(MAN1B1):c.620+9C>T rs535697514 0.00004
NM_016219.5(MAN1B1):c.731-6del rs762904705 0.00004
NM_016219.5(MAN1B1):c.*62A>G rs963031485 0.00003
NM_016219.5(MAN1B1):c.1461C>T (p.Tyr487=) rs373672617 0.00003
NM_016219.5(MAN1B1):c.1556G>T (p.Ser519Ile) rs763074368 0.00003
NM_016219.5(MAN1B1):c.1681C>T (p.Arg561Trp) rs772165357 0.00003
NM_016219.5(MAN1B1):c.1827C>T (p.Arg609=) rs201933207 0.00003
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs) rs1382373816 0.00003
NM_016219.5(MAN1B1):c.1895G>A (p.Arg632Gln) rs368503703 0.00003
NM_016219.5(MAN1B1):c.302A>G (p.Tyr101Cys) rs748988185 0.00003
NM_016219.5(MAN1B1):c.488G>A (p.Arg163Gln) rs765008747 0.00003
NM_016219.5(MAN1B1):c.708G>A (p.Pro236=) rs536127999 0.00003
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=) rs777042053 0.00003
NM_016219.5(MAN1B1):c.936G>T (p.Lys312Asn) rs376305905 0.00003
NM_016219.5(MAN1B1):c.*259G>A rs886063732 0.00002
NM_016219.5(MAN1B1):c.*489G>A rs572418621 0.00002
NM_016219.5(MAN1B1):c.1255-13C>T rs765403325 0.00002
NM_016219.5(MAN1B1):c.1546G>A (p.Gly516Ser) rs760557104 0.00002
NM_016219.5(MAN1B1):c.2056T>C (p.Phe686Leu) rs754917525 0.00002
NM_016219.5(MAN1B1):c.603G>A (p.Pro201=) rs779234844 0.00002
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=) rs564784943 0.00002
NM_016219.5(MAN1B1):c.699C>T (p.Pro233=) rs764332216 0.00002
NM_016219.5(MAN1B1):c.756C>T (p.Gly252=) rs752442068 0.00002
NM_016219.5(MAN1B1):c.776A>G (p.His259Arg) rs201673635 0.00002
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=) rs202157161 0.00002
NM_016219.5(MAN1B1):c.*389C>G rs1489403973 0.00001
NM_016219.5(MAN1B1):c.*404T>C rs759863657 0.00001
NM_016219.5(MAN1B1):c.*587C>G rs946716926 0.00001
NM_016219.5(MAN1B1):c.1001G>A (p.Arg334His) rs1476136894 0.00001
NM_016219.5(MAN1B1):c.1042G>T (p.Asp348Tyr) rs184782012 0.00001
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=) rs776601946 0.00001
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885 0.00001
NM_016219.5(MAN1B1):c.1216C>T (p.Arg406Trp) rs1037141680 0.00001
NM_016219.5(MAN1B1):c.1428C>T (p.Gly476=) rs751469511 0.00001
NM_016219.5(MAN1B1):c.1565T>C (p.Met522Thr) rs764475116 0.00001
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=) rs754107444 0.00001
NM_016219.5(MAN1B1):c.1687A>G (p.Met563Val) rs770987752 0.00001
NM_016219.5(MAN1B1):c.1765-20G>C rs1225685090 0.00001
NM_016219.5(MAN1B1):c.1811T>G (p.Leu604Arg) rs776114448 0.00001
NM_016219.5(MAN1B1):c.1897-10T>C rs1831193942 0.00001
NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe) rs777270726 0.00001
NM_016219.5(MAN1B1):c.1929T>C (p.Asn643=) rs771302082 0.00001
NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter) rs1164484724 0.00001
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys) rs756140103 0.00001
NM_016219.5(MAN1B1):c.1992G>A (p.Thr664=) rs747239978 0.00001
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=) rs150436630 0.00001
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=) rs746212127 0.00001
NM_016219.5(MAN1B1):c.2083A>G (p.Ile695Val) rs963979748 0.00001
NM_016219.5(MAN1B1):c.430A>G (p.Thr144Ala) rs763520482 0.00001
NM_016219.5(MAN1B1):c.431C>T (p.Thr144Ile) rs763744643 0.00001
NM_016219.5(MAN1B1):c.466-12A>G rs760066464 0.00001
NM_016219.5(MAN1B1):c.484C>T (p.Gln162Ter) rs1207589187 0.00001
NM_016219.5(MAN1B1):c.561A>C (p.Lys187Asn) rs534967836 0.00001
NM_016219.5(MAN1B1):c.621-4G>A rs747603982 0.00001
NM_016219.5(MAN1B1):c.678A>C (p.Ala226=) rs1430903884 0.00001
NM_016219.5(MAN1B1):c.705A>G (p.Pro235=) rs1342800552 0.00001
NM_016219.5(MAN1B1):c.731-9C>G rs762958294 0.00001
NM_016219.5(MAN1B1):c.780A>G (p.Ala260=) rs151136979 0.00001
NM_016219.5(MAN1B1):c.858C>T (p.Gly286=) rs1830758562 0.00001
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=) rs750236367 0.00001
NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp) rs777884272 0.00001
NC_000009.11:g.(?_139981452)_(139983477_?)del
NC_000009.11:g.(?_140000557)_(140003043_?)dup
NM_016219.5(MAN1B1):c.*258C>T rs755189897
NM_016219.5(MAN1B1):c.*470C>T rs558804715
NM_016219.5(MAN1B1):c.*498G>C rs886063734
NM_016219.5(MAN1B1):c.1011G>A (p.Gly337=)
NM_016219.5(MAN1B1):c.1013G>C (p.Gly338Ala)
NM_016219.5(MAN1B1):c.1013G>T (p.Gly338Val)
NM_016219.5(MAN1B1):c.1020G>T (p.Leu340=)
NM_016219.5(MAN1B1):c.1028A>G (p.Tyr343Cys) rs1038179177
NM_016219.5(MAN1B1):c.1029C>T (p.Tyr343=)
NM_016219.5(MAN1B1):c.1050C>G (p.Leu350=)
NM_016219.5(MAN1B1):c.1062A>C (p.Lys354Asn) rs756197449
NM_016219.5(MAN1B1):c.1066-10C>T
NM_016219.5(MAN1B1):c.1066-15C>G
NM_016219.5(MAN1B1):c.1066-18A>G
NM_016219.5(MAN1B1):c.1066-18A>T
NM_016219.5(MAN1B1):c.1071T>A (p.Asp357Glu)
NM_016219.5(MAN1B1):c.1075G>T (p.Gly359Ter)
NM_016219.5(MAN1B1):c.1084C>T (p.Leu362=)
NM_016219.5(MAN1B1):c.1091C>A (p.Pro364His)
NM_016219.5(MAN1B1):c.1137C>T (p.Ile379=)
NM_016219.5(MAN1B1):c.1157C>T (p.Pro386Leu)
NM_016219.5(MAN1B1):c.1194G>A (p.Val398=) rs2131023045
NM_016219.5(MAN1B1):c.1217G>A (p.Arg406Gln)
NM_016219.5(MAN1B1):c.1225T>C (p.Ser409Pro) rs1158130828
NM_016219.5(MAN1B1):c.1228del (p.Arg410fs)
NM_016219.5(MAN1B1):c.1236_1237del (p.Gly413_Asp414insTer)
NM_016219.5(MAN1B1):c.1241del (p.Asp414fs)
NM_016219.5(MAN1B1):c.1254+13G>C
NM_016219.5(MAN1B1):c.1254+14C>T
NM_016219.5(MAN1B1):c.1254+15T>C
NM_016219.5(MAN1B1):c.1254+9G>A
NM_016219.5(MAN1B1):c.1255-13C>G
NM_016219.5(MAN1B1):c.1255-13del
NM_016219.5(MAN1B1):c.1255-4G>A rs201918928
NM_016219.5(MAN1B1):c.1255-9C>T
NM_016219.5(MAN1B1):c.1260A>C (p.Ala420=)
NM_016219.5(MAN1B1):c.1276_1277del (p.Gln426fs) rs794729645
NM_016219.5(MAN1B1):c.1284C>T (p.Ile428=) rs779030233
NM_016219.5(MAN1B1):c.1292T>C (p.Leu431Pro)
NM_016219.5(MAN1B1):c.1297G>T (p.Gly433Trp)
NM_016219.5(MAN1B1):c.1298G>A (p.Gly433Glu) rs774769293
NM_016219.5(MAN1B1):c.1306G>C (p.Asp436His)
NM_016219.5(MAN1B1):c.1311del (p.Leu438fs) rs747262065
NM_016219.5(MAN1B1):c.1314G>C (p.Leu438=)
NM_016219.5(MAN1B1):c.1327A>G (p.Ile443Val)
NM_016219.5(MAN1B1):c.1331A>G (p.Asn444Ser)
NM_016219.5(MAN1B1):c.1344C>T (p.Gly448=)
NM_016219.5(MAN1B1):c.1347C>T (p.Leu449=)
NM_016219.5(MAN1B1):c.1353C>T (p.Thr451=)
NM_016219.5(MAN1B1):c.1371G>A (p.Thr457=)
NM_016219.5(MAN1B1):c.1377C>T (p.Gly459=)
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
NM_016219.5(MAN1B1):c.1397_1398del (p.Tyr465_Tyr466insTer)
NM_016219.5(MAN1B1):c.1418G>A (p.Trp473Ter) rs1564311909
NM_016219.5(MAN1B1):c.1443A>G (p.Thr481=)
NM_016219.5(MAN1B1):c.1444C>T (p.Gln482Ter) rs1831100789
NM_016219.5(MAN1B1):c.1445+15G>A
NM_016219.5(MAN1B1):c.1445+2_1445+5del rs1831100970
NM_016219.5(MAN1B1):c.1445+31_1445+79dup rs757502368
NM_016219.5(MAN1B1):c.1445+6G>T
NM_016219.5(MAN1B1):c.1445+9C>T
NM_016219.5(MAN1B1):c.1446-10G>C
NM_016219.5(MAN1B1):c.1446-19T>C
NM_016219.5(MAN1B1):c.1446-4A>G
NM_016219.5(MAN1B1):c.1447CTG[3] (p.Leu484_Glu485insLeu)
NM_016219.5(MAN1B1):c.1457A>G (p.Asp486Gly)
NM_016219.5(MAN1B1):c.1462G>A (p.Val488Met)
NM_016219.5(MAN1B1):c.1474G>A (p.Glu492Lys)
NM_016219.5(MAN1B1):c.1474G>C (p.Glu492Gln) rs775259244
NM_016219.5(MAN1B1):c.1480G>A (p.Val494Ile)
NM_016219.5(MAN1B1):c.1488G>C (p.Thr496=)
NM_016219.5(MAN1B1):c.1489C>T (p.His497Tyr)
NM_016219.5(MAN1B1):c.1492C>T (p.Leu498=) rs1168317937
NM_016219.5(MAN1B1):c.1566+11C>G
NM_016219.5(MAN1B1):c.1566+14C>A
NM_016219.5(MAN1B1):c.1566+15G>A
NM_016219.5(MAN1B1):c.1566+20C>T
NM_016219.5(MAN1B1):c.1567-13C>T
NM_016219.5(MAN1B1):c.1567-18G>A
NM_016219.5(MAN1B1):c.1596G>A (p.Thr532=)
NM_016219.5(MAN1B1):c.1603C>T (p.Leu535=)
NM_016219.5(MAN1B1):c.1608C>T (p.Gly536=)
NM_016219.5(MAN1B1):c.1618G>A (p.Gly540Ser)
NM_016219.5(MAN1B1):c.1621C>T (p.Leu541=) rs886063730
NM_016219.5(MAN1B1):c.1623G>C (p.Leu541=)
NM_016219.5(MAN1B1):c.1633C>A (p.His545Asn)
NM_016219.5(MAN1B1):c.1648C>G (p.Gln550Glu)
NM_016219.5(MAN1B1):c.1676T>C (p.Met559Thr)
NM_016219.5(MAN1B1):c.1680C>G (p.Asn560Lys) rs1017935955
NM_016219.5(MAN1B1):c.1682G>A (p.Arg561Gln)
NM_016219.5(MAN1B1):c.1696G>C (p.Gly566Arg)
NM_016219.5(MAN1B1):c.1707C>T (p.Pro569=)
NM_016219.5(MAN1B1):c.1740G>A (p.Pro580=)
NM_016219.5(MAN1B1):c.1748G>A (p.Arg583Gln)
NM_016219.5(MAN1B1):c.1764+14T>C
NM_016219.5(MAN1B1):c.1764+15G>A rs2131131764
NM_016219.5(MAN1B1):c.1764+17G>A
NM_016219.5(MAN1B1):c.1764+2TGGGCC[3]
NM_016219.5(MAN1B1):c.1790G>A (p.Arg597Gln)
NM_016219.5(MAN1B1):c.1792C>T (p.Pro598Ser)
NM_016219.5(MAN1B1):c.1808G>A (p.Ser603Asn) rs929390325
NM_016219.5(MAN1B1):c.1823A>T (p.Tyr608Phe)
NM_016219.5(MAN1B1):c.1840C>G (p.Arg614Gly)
NM_016219.5(MAN1B1):c.1881C>T (p.Phe627=) rs886063731
NM_016219.5(MAN1B1):c.1883G>T (p.Ser628Ile) rs797045687
NM_016219.5(MAN1B1):c.1886G>A (p.Arg629Gln)
NM_016219.5(MAN1B1):c.1896+16C>T
NM_016219.5(MAN1B1):c.1896+17G>C
NM_016219.5(MAN1B1):c.1896+8C>T
NM_016219.5(MAN1B1):c.1896+9C>T
NM_016219.5(MAN1B1):c.1897-5C>A
NM_016219.5(MAN1B1):c.1905G>A (p.Ser635=) rs114484315
NM_016219.5(MAN1B1):c.1913A>G (p.Tyr638Cys)
NM_016219.5(MAN1B1):c.1932C>A (p.Val644=) rs34355967
NM_016219.5(MAN1B1):c.1946A>G (p.Lys649Arg)
NM_016219.5(MAN1B1):c.1951G>A (p.Glu651Lys)
NM_016219.5(MAN1B1):c.1953G>A (p.Glu651=) rs1244821111
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
NM_016219.5(MAN1B1):c.1987G>A (p.Glu663Lys) rs371136351
NM_016219.5(MAN1B1):c.1992G>T (p.Thr664=)
NM_016219.5(MAN1B1):c.2039G>C (p.Ser680Thr)
NM_016219.5(MAN1B1):c.2041C>T (p.Leu681=)
NM_016219.5(MAN1B1):c.2046_2047inv (p.Ala683Thr)
NM_016219.5(MAN1B1):c.2064C>T (p.Thr688=)
NM_016219.5(MAN1B1):c.2069C>T (p.Ala690Val)
NM_016219.5(MAN1B1):c.2093C>T (p.Pro698Leu)
NM_016219.5(MAN1B1):c.220-10C>T
NM_016219.5(MAN1B1):c.220-7C>G
NM_016219.5(MAN1B1):c.220-9C>T
NM_016219.5(MAN1B1):c.223T>C (p.Trp75Arg)
NM_016219.5(MAN1B1):c.232C>G (p.Leu78Val) rs1830422438
NM_016219.5(MAN1B1):c.242T>A (p.Leu81Ter) rs2130986124
NM_016219.5(MAN1B1):c.247C>T (p.Arg83Trp)
NM_016219.5(MAN1B1):c.256A>G (p.Ile86Val)
NM_016219.5(MAN1B1):c.298T>G (p.Phe100Val)
NM_016219.5(MAN1B1):c.329-14C>T
NM_016219.5(MAN1B1):c.329-9G>C
NM_016219.5(MAN1B1):c.329C>T (p.Ala110Val)
NM_016219.5(MAN1B1):c.375T>C (p.Ile125=)
NM_016219.5(MAN1B1):c.402C>T (p.Pro134=)
NM_016219.5(MAN1B1):c.410C>T (p.Pro137Leu)
NM_016219.5(MAN1B1):c.426G>C (p.Ala142=) rs199738190
NM_016219.5(MAN1B1):c.439G>C (p.Glu147Gln)
NM_016219.5(MAN1B1):c.441G>A (p.Glu147=) rs886063727
NM_016219.5(MAN1B1):c.482T>C (p.Ile161Thr) rs2131002805
NM_016219.5(MAN1B1):c.487C>T (p.Arg163Trp)
NM_016219.5(MAN1B1):c.525A>G (p.Gln175=)
NM_016219.5(MAN1B1):c.526G>A (p.Asp176Asn)
NM_016219.5(MAN1B1):c.527A>T (p.Asp176Val) rs886063728
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016219.5(MAN1B1):c.536A>G (p.Asp179Gly) rs2131002949
NM_016219.5(MAN1B1):c.540G>A (p.Gly180=)
NM_016219.5(MAN1B1):c.564G>A (p.Arg188=) rs1554752187
NM_016219.5(MAN1B1):c.587G>T (p.Arg196Leu) rs200410163
NM_016219.5(MAN1B1):c.620+10G>A
NM_016219.5(MAN1B1):c.620+10G>T
NM_016219.5(MAN1B1):c.620+12A>G
NM_016219.5(MAN1B1):c.620+20C>G
NM_016219.5(MAN1B1):c.621-14C>T
NM_016219.5(MAN1B1):c.621-2A>G rs937318545
NM_016219.5(MAN1B1):c.621-4G>T
NM_016219.5(MAN1B1):c.624G>A (p.Trp208Ter)
NM_016219.5(MAN1B1):c.631G>A (p.Ala211Thr)
NM_016219.5(MAN1B1):c.632C>T (p.Ala211Val)
NM_016219.5(MAN1B1):c.645T>C (p.Pro215=)
NM_016219.5(MAN1B1):c.671G>A (p.Arg224Lys)
NM_016219.5(MAN1B1):c.677C>G (p.Ala226Gly) rs145554887
NM_016219.5(MAN1B1):c.677C>T (p.Ala226Val)
NM_016219.5(MAN1B1):c.708G>C (p.Pro236=) rs536127999
NM_016219.5(MAN1B1):c.730+13C>G
NM_016219.5(MAN1B1):c.730+16C>T
NM_016219.5(MAN1B1):c.730+5G>A
NM_016219.5(MAN1B1):c.730+8C>T
NM_016219.5(MAN1B1):c.731-16C>T
NM_016219.5(MAN1B1):c.731-17T>C rs1164752378
NM_016219.5(MAN1B1):c.731-18CT[2]
NM_016219.5(MAN1B1):c.731-8C>A rs375902720
NM_016219.5(MAN1B1):c.731-8C>T rs375902720
NM_016219.5(MAN1B1):c.746G>A (p.Arg249His)
NM_016219.5(MAN1B1):c.757G>A (p.Val253Met)
NM_016219.5(MAN1B1):c.761_764del (p.Ile254fs) rs1564281411
NM_016219.5(MAN1B1):c.765C>T (p.Asp255=)
NM_016219.5(MAN1B1):c.772_775del (p.Leu258fs)
NM_016219.5(MAN1B1):c.816C>T (p.Asp272=)
NM_016219.5(MAN1B1):c.817G>A (p.Glu273Lys)
NM_016219.5(MAN1B1):c.879C>T (p.Asp293=)
NM_016219.5(MAN1B1):c.880G>A (p.Ala294Thr)
NM_016219.5(MAN1B1):c.892A>G (p.Met298Val)
NM_016219.5(MAN1B1):c.906T>C (p.Gly302=)
NM_016219.5(MAN1B1):c.916+10G>A
NM_016219.5(MAN1B1):c.916+14T>C
NM_016219.5(MAN1B1):c.917-2_921del
NM_016219.5(MAN1B1):c.939G>A (p.Trp313Ter) rs1830793247
NM_016219.5(MAN1B1):c.969C>T (p.Asp323=)
NM_016219.5(MAN1B1):c.970G>A (p.Val324Met)
NM_016219.5(MAN1B1):c.973G>A (p.Asp325Asn)
NM_016219.5(MAN1B1):c.994A>G (p.Thr332Ala) rs546612497

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.