ClinVar Miner

List of variants studied for Deficiency of alpha-mannosidase by Illumina Laboratory Services, Illumina

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Total variants: 109
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HGVS dbSNP gnomAD frequency
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.747C>T (p.Thr249=) rs61737536 0.05436
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=) rs35880640 0.02554
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887 0.01841
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=) rs34853569 0.01148
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289 0.00964
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu) rs59357922 0.00793
NM_000528.4(MAN2B1):c.*42G>A rs149101136 0.00673
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
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.2283C>T (p.Pro761=) rs138358081 0.00160
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.1110-8C>T rs201690866 0.00109
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
NM_000528.4(MAN2B1):c.*105C>G rs547349667 0.00083
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716 0.00078
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.135C>T (p.Ala45=) rs200413076 0.00041
NM_000528.4(MAN2B1):c.630+12G>C rs368271384 0.00041
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser) rs3745650 0.00036
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.2501C>T (p.Ser834Leu) rs199967717 0.00029
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00027
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=) rs372896479 0.00026
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_000528.4(MAN2B1):c.*41C>T rs371716069 0.00021
NM_000528.4(MAN2B1):c.2268-11C>T rs537217370 0.00017
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108 0.00016
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His) rs202174515 0.00016
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.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928 0.00013
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys) rs988974694 0.00013
NM_000528.4(MAN2B1):c.*91C>T rs145108101 0.00012
NM_000528.4(MAN2B1):c.48G>A (p.Leu16=) rs777286610 0.00009
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=) rs371341958 0.00009
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=) rs3745649 0.00009
NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp) rs201600797 0.00008
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=) rs142797984 0.00008
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=) rs762152042 0.00006
NM_000528.4(MAN2B1):c.2785C>T (p.Arg929Cys) rs142248782 0.00006
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535 0.00005
NM_000528.3(MAN2B1):c.-73G>T rs544325509 0.00004
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser) rs767199154 0.00004
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.2167G>A (p.Asp723Asn) rs749183690 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.2145G>A (p.Ser715=) rs776158673 0.00003
NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser) rs377509266 0.00002
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=) rs771761940 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.1026+8C>T rs199908179 0.00001
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=) rs747081586 0.00001
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys) rs772742355 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.3006C>A (p.Ala1002=) rs2023694204 0.00001
NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr) rs750137512 0.00001
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797 0.00001
NM_000528.4(MAN2B1):c.843C>T (p.Asp281=) rs886054232 0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045 0.00001
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587 0.00001
NM_000528.4(MAN2B1):c.*100T>G rs886054227
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1110-15C>G rs202085731
NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=) rs886054231
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=) rs745391577
NM_000528.4(MAN2B1):c.1231-13C>T rs372848519
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1419+5G>T rs540367946
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met) rs1211189249
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro) rs146725928
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2267+8dup rs572289342
NM_000528.4(MAN2B1):c.233T>C (p.Leu78Pro) rs1387086908
NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val) rs886054229
NM_000528.4(MAN2B1):c.2796C>G (p.Ser932Arg) rs1403072896
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=) rs750997069
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.2991C>T (p.Ile997=) rs886054228
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=) rs886054233
NM_000528.4(MAN2B1):c.762T>C (p.Thr254=) rs2024162767
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487

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