ClinVar Miner

List of variants studied for Deficiency of alpha-mannosidase by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2267+63A>G rs3815914 0.66212
NM_000528.4(MAN2B1):c.1310-22C>T rs73002392 0.50963
NM_000528.4(MAN2B1):c.910-73A>G rs2303731 0.40412
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136 0.00296
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583 0.00139
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616 0.00056
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
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.1158G>A (p.Gln386=) rs112829030 0.00025
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108 0.00016
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928 0.00013
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter) rs779769525 0.00009
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=) rs3745649 0.00009
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00007
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=) rs762152042 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535 0.00005
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=) rs369071579 0.00004
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566 0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_000528.4(MAN2B1):c.282C>T (p.His94=) rs766810849 0.00004
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075 0.00003
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240 0.00003
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=) rs746514019 0.00003
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=) rs771761940 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=) rs561895292 0.00002
NM_000528.4(MAN2B1):c.-19A>G rs886054234 0.00001
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333 0.00001
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357 0.00001
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=) rs747081586 0.00001
NM_000528.4(MAN2B1):c.1831-2A>G rs80338678 0.00001
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys) rs772742355 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 0.00001
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002 0.00001
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=) rs775212002 0.00001
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu) rs1369134650 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) rs1429239930 0.00001
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797 0.00001
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His) rs1408334891 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045 0.00001
NM_000528.4(MAN2B1):c.1030G>C (p.Ala344Pro) rs2145262302
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs) rs2145261994
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.116T>C (p.Leu39Pro) rs1479309756
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs) rs2024020274
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter) rs2024019978
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter) rs2024014272
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs) rs771647137
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) rs1599350640
NM_000528.4(MAN2B1):c.1534del (p.Val512fs) rs2023968643
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter) rs376719984
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter) rs121434332
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter) rs1599344532
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter) rs756680048
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter) rs2023854692
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter) rs1392422167
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs) rs1555706706
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs) rs2023782686
NM_000528.4(MAN2B1):c.2329C>T (p.Pro777Ser) rs1599340883
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs) rs1347035611
NM_000528.4(MAN2B1):c.2437-2A>G rs1445197546
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter) rs2024217737
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs) rs2145225250
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs) rs2023745479
NM_000528.4(MAN2B1):c.2665-165G>C rs2145222928
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs) rs2145221516
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=) rs750997069
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs) rs1599337939
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=) rs1376771729
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter) rs757072948
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter) rs1555709972
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter) rs1366682636
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.426del (p.Val143fs) rs2024205685
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=) rs886054233
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter) rs2024155693
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs) rs2024151949
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487

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.