ClinVar Miner

List of variants reported as uncertain significance for Deficiency of alpha-mannosidase by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 314
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His) rs139041112 0.00044
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151 0.00031
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682 0.00030
NM_000528.4(MAN2B1):c.1961A>G (p.Asp654Gly) rs191035238 0.00014
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys) rs139366493 0.00014
NM_000528.4(MAN2B1):c.630+6A>T rs372899975 0.00014
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp) rs201448121 0.00014
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys) rs988974694 0.00013
NM_000528.4(MAN2B1):c.28G>A (p.Val10Ile) rs558131886 0.00013
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met) rs148134639 0.00012
NM_000528.4(MAN2B1):c.516G>A (p.Met172Ile) rs144119421 0.00011
NM_000528.4(MAN2B1):c.922C>T (p.Arg308Cys) rs185112259 0.00010
NM_000528.4(MAN2B1):c.1417G>A (p.Glu473Lys) rs749371047 0.00009
NM_000528.4(MAN2B1):c.1622A>G (p.Asn541Ser) rs564296108 0.00009
NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro) rs199673719 0.00009
NM_000528.4(MAN2B1):c.2355+5C>G rs770412137 0.00009
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928 0.00008
NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp) rs201600797 0.00008
NM_000528.4(MAN2B1):c.862A>G (p.Asn288Asp) rs927024699 0.00007
NM_000528.4(MAN2B1):c.2054T>C (p.Leu685Ser) rs779966472 0.00005
NM_000528.4(MAN2B1):c.1528-3C>A rs752895909 0.00004
NM_000528.4(MAN2B1):c.1540G>A (p.Val514Ile) rs759767616 0.00004
NM_000528.4(MAN2B1):c.1645-3G>A rs748206062 0.00004
NM_000528.4(MAN2B1):c.2166-8G>A rs774350579 0.00004
NM_000528.4(MAN2B1):c.2167G>A (p.Asp723Asn) rs749183690 0.00004
NM_000528.4(MAN2B1):c.2431C>T (p.Leu811Phe) rs367852398 0.00004
NM_000528.4(MAN2B1):c.773C>T (p.Pro258Leu) rs1196803371 0.00004
NM_000528.4(MAN2B1):c.1022C>T (p.Ala341Val) rs574049175 0.00003
NM_000528.4(MAN2B1):c.1230+5G>T rs1398531876 0.00003
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075 0.00003
NM_000528.4(MAN2B1):c.1444C>T (p.Arg482Trp) rs533428309 0.00003
NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys) rs764543590 0.00003
NM_000528.4(MAN2B1):c.179C>T (p.Pro60Leu) rs145163643 0.00003
NM_000528.4(MAN2B1):c.2270G>A (p.Arg757Gln) rs772264672 0.00003
NM_000528.4(MAN2B1):c.2355+6T>A rs1052970162 0.00003
NM_000528.4(MAN2B1):c.2639A>G (p.Asn880Ser) rs1466468362 0.00003
NM_000528.4(MAN2B1):c.2864C>T (p.Thr955Met) rs771210668 0.00003
NM_000528.4(MAN2B1):c.785A>G (p.Asn262Ser) rs944317989 0.00003
NM_000528.4(MAN2B1):c.1100A>G (p.Asn367Ser) rs771528526 0.00002
NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser) rs377509266 0.00002
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240 0.00002
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys) rs199700264 0.00002
NM_000528.4(MAN2B1):c.2659A>G (p.Thr887Ala) rs1186717379 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_000528.4(MAN2B1):c.2945C>T (p.Pro982Leu) rs376856949 0.00002
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys) rs765088432 0.00002
NM_000528.4(MAN2B1):c.64T>C (p.Trp22Arg) rs1329492928 0.00002
NM_000528.4(MAN2B1):c.659G>A (p.Arg220His) rs1310537291 0.00002
NM_000528.4(MAN2B1):c.1114G>T (p.Val372Leu) rs745579139 0.00001
NM_000528.4(MAN2B1):c.1142C>T (p.Ala381Val) rs971436574 0.00001
NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His) rs563097824 0.00001
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856 0.00001
NM_000528.4(MAN2B1):c.1309A>G (p.Asn437Asp) rs370036738 0.00001
NM_000528.4(MAN2B1):c.1313A>T (p.Glu438Val) rs867708818 0.00001
NM_000528.4(MAN2B1):c.1337A>C (p.His446Pro) rs1470391256 0.00001
NM_000528.4(MAN2B1):c.1345G>A (p.Val449Ile) rs764898305 0.00001
NM_000528.4(MAN2B1):c.1420G>T (p.Val474Phe) rs1276104443 0.00001
NM_000528.4(MAN2B1):c.1514A>G (p.Gln505Arg) rs2023977189 0.00001
NM_000528.4(MAN2B1):c.1568A>C (p.Asn523Thr) rs2023967508 0.00001
NM_000528.4(MAN2B1):c.1586C>T (p.Pro529Leu) rs1330706618 0.00001
NM_000528.4(MAN2B1):c.1774G>A (p.Ala592Thr) rs766021102 0.00001
NM_000528.4(MAN2B1):c.1889A>G (p.Asn630Ser) rs539124424 0.00001
NM_000528.4(MAN2B1):c.1945G>T (p.Gly649Cys) rs1481077295 0.00001
NM_000528.4(MAN2B1):c.1954G>A (p.Glu652Lys) rs756680048 0.00001
NM_000528.4(MAN2B1):c.1994A>T (p.Asn665Ile) rs762894770 0.00001
NM_000528.4(MAN2B1):c.2065G>A (p.Val689Met) rs778745390 0.00001
NM_000528.4(MAN2B1):c.2101G>A (p.Val701Ile) rs561720564 0.00001
NM_000528.4(MAN2B1):c.212C>T (p.Thr71Ile) rs1458969193 0.00001
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly) rs781046464 0.00001
NM_000528.4(MAN2B1):c.2207C>T (p.Pro736Leu) rs1270784757 0.00001
NM_000528.4(MAN2B1):c.2225G>A (p.Arg742His) rs370551216 0.00001
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys) rs772742355 0.00001
NM_000528.4(MAN2B1):c.2489T>C (p.Met830Thr) rs1438173166 0.00001
NM_000528.4(MAN2B1):c.2509T>C (p.Trp837Arg) rs760097655 0.00001
NM_000528.4(MAN2B1):c.2561C>T (p.Ala854Val) rs775204651 0.00001
NM_000528.4(MAN2B1):c.26G>A (p.Gly9Glu) rs1170799731 0.00001
NM_000528.4(MAN2B1):c.2737G>A (p.Val913Met) rs929568109 0.00001
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile) rs755553683 0.00001
NM_000528.4(MAN2B1):c.2803G>A (p.Val935Ile) rs765269491 0.00001
NM_000528.4(MAN2B1):c.2846C>T (p.Thr949Ile) rs377567861 0.00001
NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His) rs750173812 0.00001
NM_000528.4(MAN2B1):c.2906A>G (p.Lys969Arg) rs1323141015 0.00001
NM_000528.4(MAN2B1):c.2960C>T (p.Pro987Leu) rs373174565 0.00001
NM_000528.4(MAN2B1):c.309G>A (p.Ser103=) rs1175779934 0.00001
NM_000528.4(MAN2B1):c.334C>T (p.Pro112Ser) rs1312728452 0.00001
NM_000528.4(MAN2B1):c.436G>A (p.Gly146Arg) rs767951916 0.00001
NM_000528.4(MAN2B1):c.469A>T (p.Met157Leu) rs1216161567 0.00001
NM_000528.4(MAN2B1):c.50A>G (p.Asp17Gly) rs755738320 0.00001
NM_000528.4(MAN2B1):c.55G>A (p.Ala19Thr) rs1346520961 0.00001
NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr) rs750137512 0.00001
NM_000528.4(MAN2B1):c.59G>A (p.Gly20Asp) rs1220611493 0.00001
NM_000528.4(MAN2B1):c.602C>G (p.Ser201Cys) rs776241681 0.00001
NM_000528.4(MAN2B1):c.619C>A (p.Leu207Met) rs778300782 0.00001
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His) rs1408334891 0.00001
NM_000528.4(MAN2B1):c.767T>G (p.Val256Gly) rs1407251533 0.00001
NM_000528.4(MAN2B1):c.830C>T (p.Pro277Leu) rs779091097 0.00001
NM_000528.4(MAN2B1):c.914G>A (p.Arg305Gln) rs781394900 0.00001
NM_000528.4(MAN2B1):c.946A>G (p.Met316Val) rs373636903 0.00001
NM_000528.4(MAN2B1):c.94C>A (p.Leu32Ile) rs1471471874 0.00001
NC_000019.9:g.(?_10828919)_(13482613_?)dup
NC_000019.9:g.(?_12772054)_(12777515_?)dup
NM_000528.4(MAN2B1):c.1003C>T (p.Leu335Phe) rs2145272792
NM_000528.4(MAN2B1):c.1009C>T (p.Arg337Trp)
NM_000528.4(MAN2B1):c.100C>A (p.Pro34Thr)
NM_000528.4(MAN2B1):c.1015G>A (p.Val339Ile)
NM_000528.4(MAN2B1):c.1016T>C (p.Val339Ala)
NM_000528.4(MAN2B1):c.1027-7C>G
NM_000528.4(MAN2B1):c.1066C>G (p.Pro356Ala) rs2145262130
NM_000528.4(MAN2B1):c.1078C>G (p.Leu360Val) rs2145262015
NM_000528.4(MAN2B1):c.1087C>G (p.Leu363Val)
NM_000528.4(MAN2B1):c.1110-18A>G
NM_000528.4(MAN2B1):c.1169G>C (p.Gly390Ala)
NM_000528.4(MAN2B1):c.1199G>A (p.Arg400His)
NM_000528.4(MAN2B1):c.1204G>C (p.Glu402Gln)
NM_000528.4(MAN2B1):c.1230+3G>A
NM_000528.4(MAN2B1):c.1230+8G>A
NM_000528.4(MAN2B1):c.1250C>T (p.Ala417Val)
NM_000528.4(MAN2B1):c.1259G>A (p.Gly420Asp) rs772853856
NM_000528.4(MAN2B1):c.1271A>G (p.Asn424Ser) rs1322106502
NM_000528.4(MAN2B1):c.128C>A (p.Ala43Glu) rs867517934
NM_000528.4(MAN2B1):c.1299T>A (p.Ser433Arg)
NM_000528.4(MAN2B1):c.1310A>G (p.Asn437Ser)
NM_000528.4(MAN2B1):c.1350C>A (p.Ser450Arg)
NM_000528.4(MAN2B1):c.1375_1377del (p.Asn459del)
NM_000528.4(MAN2B1):c.1408G>A (p.Gly470Arg)
NM_000528.4(MAN2B1):c.1419+5G>T rs540367946
NM_000528.4(MAN2B1):c.1419G>A (p.Glu473=)
NM_000528.4(MAN2B1):c.142C>G (p.Arg48Gly)
NM_000528.4(MAN2B1):c.1454G>C (p.Gly485Ala) rs373553609
NM_000528.4(MAN2B1):c.1454G>T (p.Gly485Val)
NM_000528.4(MAN2B1):c.1461A>C (p.Lys487Asn)
NM_000528.4(MAN2B1):c.1472C>T (p.Thr491Ile)
NM_000528.4(MAN2B1):c.1492A>G (p.Ile498Val) rs1339651416
NM_000528.4(MAN2B1):c.1494C>G (p.Ile498Met)
NM_000528.4(MAN2B1):c.1511G>C (p.Ser504Thr)
NM_000528.4(MAN2B1):c.1517C>A (p.Thr506Lys) rs139255957
NM_000528.4(MAN2B1):c.1520C>T (p.Ala507Val)
NM_000528.4(MAN2B1):c.1525C>T (p.Arg509Cys)
NM_000528.4(MAN2B1):c.1527+3G>C
NM_000528.4(MAN2B1):c.1541T>C (p.Val514Ala) rs1599349485
NM_000528.4(MAN2B1):c.1554G>A (p.Leu518=)
NM_000528.4(MAN2B1):c.1596A>C (p.Glu532Asp) rs2023965888
NM_000528.4(MAN2B1):c.1598G>A (p.Gly533Asp) rs2145253098
NM_000528.4(MAN2B1):c.1606G>A (p.Val536Ile)
NM_000528.4(MAN2B1):c.1631C>T (p.Thr544Ile)
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe) rs864621975
NM_000528.4(MAN2B1):c.1652T>C (p.Ile551Thr) rs1475575364
NM_000528.4(MAN2B1):c.1660A>G (p.Ser554Gly)
NM_000528.4(MAN2B1):c.1667A>C (p.Asp556Ala)
NM_000528.4(MAN2B1):c.1682C>A (p.Pro561His)
NM_000528.4(MAN2B1):c.1682C>G (p.Pro561Arg)
NM_000528.4(MAN2B1):c.1684C>T (p.Pro562Ser) rs1303843843
NM_000528.4(MAN2B1):c.1685C>A (p.Pro562Gln)
NM_000528.4(MAN2B1):c.1703C>G (p.Ala568Gly)
NM_000528.4(MAN2B1):c.1712C>A (p.Pro571His)
NM_000528.4(MAN2B1):c.1714G>T (p.Ala572Ser) rs377104016
NM_000528.4(MAN2B1):c.1730C>G (p.Thr577Ser) rs2145250460
NM_000528.4(MAN2B1):c.1739_1741del (p.Val580del)
NM_000528.4(MAN2B1):c.1741G>A (p.Ala581Thr) rs2145250381
NM_000528.4(MAN2B1):c.1747G>A (p.Val583Met)
NM_000528.4(MAN2B1):c.1748T>A (p.Val583Glu) rs2145250358
NM_000528.4(MAN2B1):c.1753C>G (p.Arg585Gly)
NM_000528.4(MAN2B1):c.1754G>T (p.Arg585Leu) rs1374305848
NM_000528.4(MAN2B1):c.1771C>T (p.Arg591Cys)
NM_000528.4(MAN2B1):c.1787T>A (p.Ile596Asn) rs769653813
NM_000528.4(MAN2B1):c.1787T>G (p.Ile596Ser)
NM_000528.4(MAN2B1):c.1799C>A (p.Ser600Tyr)
NM_000528.4(MAN2B1):c.1830+3G>A
NM_000528.4(MAN2B1):c.1830+3G>T
NM_000528.4(MAN2B1):c.1837C>T (p.Arg613Trp)
NM_000528.4(MAN2B1):c.1844C>T (p.Thr615Met)
NM_000528.4(MAN2B1):c.1863G>T (p.Gly621=) rs2145240167
NM_000528.4(MAN2B1):c.1912C>T (p.Arg638Cys)
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro) rs146725928
NM_000528.4(MAN2B1):c.1917G>C (p.Gln639His)
NM_000528.4(MAN2B1):c.1919C>A (p.Thr640Asn)
NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del) rs1599344435
NM_000528.4(MAN2B1):c.1936G>A (p.Ala646Thr)
NM_000528.4(MAN2B1):c.1960G>T (p.Asp654Tyr) rs932247520
NM_000528.4(MAN2B1):c.1993A>C (p.Asn665His) rs2023853658
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.2006C>G (p.Pro669Arg)
NM_000528.4(MAN2B1):c.2014G>C (p.Val672Leu)
NM_000528.4(MAN2B1):c.2021G>A (p.Arg674His)
NM_000528.4(MAN2B1):c.2036A>G (p.His679Arg)
NM_000528.4(MAN2B1):c.2046+6G>T rs748175413
NM_000528.4(MAN2B1):c.2047A>G (p.Thr683Ala)
NM_000528.4(MAN2B1):c.2050C>A (p.Pro684Thr) rs2023810273
NM_000528.4(MAN2B1):c.2097G>C (p.Gln699His)
NM_000528.4(MAN2B1):c.2144C>T (p.Ser715Leu)
NM_000528.4(MAN2B1):c.2147T>A (p.Val716Glu)
NM_000528.4(MAN2B1):c.2152_2165+1dup
NM_000528.4(MAN2B1):c.2180A>G (p.Lys727Arg)
NM_000528.4(MAN2B1):c.2181G>C (p.Lys727Asn)
NM_000528.4(MAN2B1):c.2206C>A (p.Pro736Thr)
NM_000528.4(MAN2B1):c.2224C>T (p.Arg742Cys)
NM_000528.4(MAN2B1):c.223G>C (p.Val75Leu)
NM_000528.4(MAN2B1):c.224T>A (p.Val75Glu) rs938995975
NM_000528.4(MAN2B1):c.2267+5G>A
NM_000528.4(MAN2B1):c.2278C>G (p.Arg760Gly) rs121434331
NM_000528.4(MAN2B1):c.2279G>C (p.Arg760Pro)
NM_000528.4(MAN2B1):c.227G>A (p.Gly76Asp)
NM_000528.4(MAN2B1):c.2282C>G (p.Pro761Arg)
NM_000528.4(MAN2B1):c.2285C>T (p.Thr762Ile)
NM_000528.4(MAN2B1):c.2306A>G (p.Glu769Gly)
NM_000528.4(MAN2B1):c.2309C>T (p.Pro770Leu)
NM_000528.4(MAN2B1):c.233T>C (p.Leu78Pro) rs1387086908
NM_000528.4(MAN2B1):c.2342G>A (p.Arg781Gln)
NM_000528.4(MAN2B1):c.2354C>T (p.Thr785Met)
NM_000528.4(MAN2B1):c.2355+6T>C
NM_000528.4(MAN2B1):c.2390G>A (p.Arg797His)
NM_000528.4(MAN2B1):c.2390G>T (p.Arg797Leu) rs750957781
NM_000528.4(MAN2B1):c.2479G>C (p.Glu827Gln)
NM_000528.4(MAN2B1):c.2497G>C (p.Gly833Arg) rs144244650
NM_000528.4(MAN2B1):c.2500T>C (p.Ser834Pro)
NM_000528.4(MAN2B1):c.2506G>C (p.Ala836Pro) rs140281123
NM_000528.4(MAN2B1):c.2516G>A (p.Arg839Gln) rs2023749207
NM_000528.4(MAN2B1):c.2518G>C (p.Gly840Arg) rs752079394
NM_000528.4(MAN2B1):c.2521C>T (p.Arg841Cys)
NM_000528.4(MAN2B1):c.2524C>T (p.His842Tyr)
NM_000528.4(MAN2B1):c.2555C>T (p.Ala852Val)
NM_000528.4(MAN2B1):c.2572C>T (p.Leu858Phe)
NM_000528.4(MAN2B1):c.2579C>T (p.Ala860Val)
NM_000528.4(MAN2B1):c.2590G>A (p.Val864Ile)
NM_000528.4(MAN2B1):c.259G>A (p.Gly87Arg)
NM_000528.4(MAN2B1):c.2605G>A (p.Val869Met)
NM_000528.4(MAN2B1):c.2618C>A (p.Pro873Gln) rs752022224
NM_000528.4(MAN2B1):c.2618C>T (p.Pro873Leu)
NM_000528.4(MAN2B1):c.2620G>C (p.Gly874Arg)
NM_000528.4(MAN2B1):c.2626G>A (p.Gly876Ser)
NM_000528.4(MAN2B1):c.2640T>A (p.Asn880Lys) rs763786776
NM_000528.4(MAN2B1):c.2657G>A (p.Arg886His)
NM_000528.4(MAN2B1):c.2665-28_2665-9del
NM_000528.4(MAN2B1):c.2674C>A (p.Leu892Met)
NM_000528.4(MAN2B1):c.2678G>A (p.Arg893His)
NM_000528.4(MAN2B1):c.2680A>G (p.Arg894Gly)
NM_000528.4(MAN2B1):c.2690C>T (p.Pro897Leu)
NM_000528.4(MAN2B1):c.2696C>T (p.Ser899Leu)
NM_000528.4(MAN2B1):c.2704C>G (p.Leu902Val) rs1301597273
NM_000528.4(MAN2B1):c.2726G>A (p.Gly909Asp) rs2023720009
NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile)
NM_000528.4(MAN2B1):c.2740C>A (p.Leu914Met)
NM_000528.4(MAN2B1):c.2758C>G (p.Gln920Glu)
NM_000528.4(MAN2B1):c.2767G>T (p.Val923Leu) rs755553683
NM_000528.4(MAN2B1):c.2797G>A (p.Ala933Thr)
NM_000528.4(MAN2B1):c.281A>G (p.His94Arg)
NM_000528.4(MAN2B1):c.282C>A (p.His94Gln)
NM_000528.4(MAN2B1):c.286G>A (p.Gly96Ser)
NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala)
NM_000528.4(MAN2B1):c.2885G>C (p.Arg962Pro)
NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala) rs1365532315
NM_000528.4(MAN2B1):c.2903T>C (p.Leu968Pro)
NM_000528.4(MAN2B1):c.2912C>T (p.Thr971Ile) rs2023709677
NM_000528.4(MAN2B1):c.2927C>G (p.Pro976Arg)
NM_000528.4(MAN2B1):c.2932C>A (p.Pro978Thr) rs763382948
NM_000528.4(MAN2B1):c.293A>C (p.Gln98Pro)
NM_000528.4(MAN2B1):c.2992C>T (p.Arg998Cys)
NM_000528.4(MAN2B1):c.29T>G (p.Val10Gly) rs1169325876
NM_000528.4(MAN2B1):c.3002T>C (p.Leu1001Pro)
NM_000528.4(MAN2B1):c.3004G>A (p.Ala1002Thr)
NM_000528.4(MAN2B1):c.3013C>T (p.Gln1005Ter)
NM_000528.4(MAN2B1):c.340C>T (p.Arg114Cys)
NM_000528.4(MAN2B1):c.352T>G (p.Tyr118Asp)
NM_000528.4(MAN2B1):c.376C>T (p.Arg126Cys)
NM_000528.4(MAN2B1):c.415G>A (p.Val139Met)
NM_000528.4(MAN2B1):c.422A>T (p.Asp141Val)
NM_000528.4(MAN2B1):c.427G>A (p.Val143Met)
NM_000528.4(MAN2B1):c.430C>T (p.Arg144Cys)
NM_000528.4(MAN2B1):c.431G>A (p.Arg144His)
NM_000528.4(MAN2B1):c.451G>A (p.Ala151Thr)
NM_000528.4(MAN2B1):c.461G>A (p.Gly154Asp)
NM_000528.4(MAN2B1):c.496G>A (p.Gly166Ser) rs749680035
NM_000528.4(MAN2B1):c.502A>G (p.Ile168Val)
NM_000528.4(MAN2B1):c.545C>T (p.Thr182Ile)
NM_000528.4(MAN2B1):c.554A>G (p.Asn185Ser)
NM_000528.4(MAN2B1):c.5G>T (p.Gly2Val)
NM_000528.4(MAN2B1):c.604C>A (p.Arg202=)
NM_000528.4(MAN2B1):c.630+5G>A
NM_000528.4(MAN2B1):c.639C>G (p.Phe213Leu)
NM_000528.4(MAN2B1):c.640G>A (p.Asp214Asn)
NM_000528.4(MAN2B1):c.640G>C (p.Asp214His)
NM_000528.4(MAN2B1):c.658C>T (p.Arg220Cys)
NM_000528.4(MAN2B1):c.665A>G (p.Asp222Gly)
NM_000528.4(MAN2B1):c.671A>G (p.Gln224Arg)
NM_000528.4(MAN2B1):c.673G>C (p.Asp225His) rs2024165338
NM_000528.4(MAN2B1):c.743C>G (p.Pro248Arg) rs117843968
NM_000528.4(MAN2B1):c.748G>A (p.Ala250Thr)
NM_000528.4(MAN2B1):c.749C>T (p.Ala250Val)
NM_000528.4(MAN2B1):c.752A>T (p.Asp251Val)
NM_000528.4(MAN2B1):c.776A>G (p.Asn259Ser)
NM_000528.4(MAN2B1):c.777T>G (p.Asn259Lys)
NM_000528.4(MAN2B1):c.779G>T (p.Gly260Val)
NM_000528.4(MAN2B1):c.787C>T (p.Pro263Ser)
NM_000528.4(MAN2B1):c.7G>A (p.Ala3Thr)
NM_000528.4(MAN2B1):c.836T>C (p.Val279Ala)
NM_000528.4(MAN2B1):c.838G>A (p.Glu280Lys)
NM_000528.4(MAN2B1):c.847C>T (p.Arg283Cys)
NM_000528.4(MAN2B1):c.848G>A (p.Arg283His)
NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn) rs973412688
NM_000528.4(MAN2B1):c.894T>G (p.Asn298Lys)
NM_000528.4(MAN2B1):c.899C>T (p.Ala300Val)
NM_000528.4(MAN2B1):c.8C>T (p.Ala3Val)
NM_000528.4(MAN2B1):c.901A>G (p.Thr301Ala)
NM_000528.4(MAN2B1):c.904G>T (p.Ala302Ser)
NM_000528.4(MAN2B1):c.905C>T (p.Ala302Val)
NM_000528.4(MAN2B1):c.910G>A (p.Gly304Ser) rs2024102051
NM_000528.4(MAN2B1):c.913C>T (p.Arg305Trp) rs202100368
NM_000528.4(MAN2B1):c.923G>A (p.Arg308His)
NM_000528.4(MAN2B1):c.92C>T (p.Pro31Leu)
NM_000528.4(MAN2B1):c.940A>T (p.Met314Leu)
NM_000528.4(MAN2B1):c.955G>C (p.Asp319His) rs1251243232
NM_000528.4(MAN2B1):c.956A>G (p.Asp319Gly) rs1222864490
NM_000528.4(MAN2B1):c.981G>T (p.Met327Ile) rs2145272922
NM_000528.4(MAN2B1):c.997G>C (p.Asp333His)

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