ClinVar Miner

List of variants in gene POMGNT2 studied for muscular dystrophy-dystroglycanopathy, type A

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 397
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HGVS dbSNP gnomAD frequency
NM_032806.6(POMGNT2):c.1365G>A (p.Pro455=) rs604033 0.80050
NM_032806.6(POMGNT2):c.1233G>A (p.Gln411=) rs9811883 0.04801
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) rs35207939 0.01004
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp) rs147175064 0.00760
NM_032806.6(POMGNT2):c.537G>C (p.Leu179=) rs149932476 0.00458
NM_032806.6(POMGNT2):c.762G>A (p.Lys254=) rs115870061 0.00429
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290 0.00274
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=) rs142190930 0.00248
NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln) rs138980930 0.00208
NM_032806.6(POMGNT2):c.966C>G (p.Ser322=) rs141319921 0.00186
NM_032806.6(POMGNT2):c.153C>T (p.Ile51=) rs149543151 0.00092
NM_032806.6(POMGNT2):c.1388G>A (p.Arg463His) rs143394182 0.00081
NM_032806.6(POMGNT2):c.488A>G (p.Asn163Ser) rs140389725 0.00067
NM_032806.6(POMGNT2):c.1602C>T (p.Tyr534=) rs143832191 0.00066
NM_032806.6(POMGNT2):c.561C>T (p.His187=) rs147429438 0.00059
NM_032806.6(POMGNT2):c.1219C>T (p.Arg407Trp) rs138480528 0.00058
NM_032806.6(POMGNT2):c.1740G>A (p.Thr580=) rs148890110 0.00055
NM_032806.6(POMGNT2):c.828C>T (p.Asn276=) rs150404794 0.00044
NM_032806.6(POMGNT2):c.239G>A (p.Arg80His) rs146511234 0.00040
NM_032806.6(POMGNT2):c.465C>T (p.Ile155=) rs140578716 0.00038
NM_032806.6(POMGNT2):c.119G>A (p.Arg40Gln) rs146229269 0.00036
NM_032806.6(POMGNT2):c.438G>A (p.Pro146=) rs375314883 0.00036
NM_032806.6(POMGNT2):c.1162C>T (p.Leu388Phe) rs139060322 0.00033
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=) rs371749889 0.00031
NM_032806.6(POMGNT2):c.1113C>T (p.Pro371=) rs772146015 0.00026
NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln) rs139245562 0.00026
NM_032806.6(POMGNT2):c.77G>A (p.Arg26His) rs143667339 0.00023
NM_032806.6(POMGNT2):c.1402C>T (p.Arg468Trp) rs137873804 0.00022
NM_032806.6(POMGNT2):c.1304T>C (p.Leu435Pro) rs142458115 0.00017
NM_032806.6(POMGNT2):c.1070G>A (p.Arg357His) rs144487961 0.00016
NM_032806.6(POMGNT2):c.1114G>A (p.Asp372Asn) rs147129872 0.00016
NM_032806.6(POMGNT2):c.1390G>A (p.Val464Met) rs150901131 0.00016
NM_032806.6(POMGNT2):c.1466G>A (p.Arg489Gln) rs140400295 0.00014
NM_032806.6(POMGNT2):c.162G>A (p.Pro54=) rs755111895 0.00014
NM_032806.6(POMGNT2):c.650G>A (p.Arg217Gln) rs368280765 0.00014
NM_032806.6(POMGNT2):c.195A>G (p.Thr65=) rs199992681 0.00012
NM_032806.6(POMGNT2):c.422G>A (p.Arg141His) rs576598140 0.00012
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser) rs200535361 0.00011
NM_032806.6(POMGNT2):c.454G>A (p.Val152Met) rs201114442 0.00011
NM_032806.6(POMGNT2):c.76C>T (p.Arg26Cys) rs755067791 0.00011
NM_032806.6(POMGNT2):c.1137G>A (p.Thr379=) rs377724350 0.00010
NM_032806.6(POMGNT2):c.1392G>C (p.Val464=) rs554801280 0.00010
NM_032806.6(POMGNT2):c.928C>T (p.Leu310=) rs151274025 0.00010
NM_032806.6(POMGNT2):c.1092C>G (p.Leu364=) rs372895122 0.00009
NM_032806.6(POMGNT2):c.538C>T (p.Arg180Trp) rs371895867 0.00009
NM_032806.6(POMGNT2):c.635A>G (p.Lys212Arg) rs141665095 0.00009
NM_032806.6(POMGNT2):c.935A>G (p.Gln312Arg) rs375879947 0.00009
NM_032806.6(POMGNT2):c.994G>A (p.Val332Met) rs549430013 0.00009
NM_032806.6(POMGNT2):c.1123A>G (p.Thr375Ala) rs755833440 0.00008
NM_032806.6(POMGNT2):c.189C>T (p.Gly63=) rs377288837 0.00008
NM_032806.6(POMGNT2):c.1455G>A (p.Val485=) rs145017190 0.00007
NM_032806.6(POMGNT2):c.499G>A (p.Val167Ile) rs201333414 0.00007
NM_032806.6(POMGNT2):c.83A>G (p.His28Arg) rs766508088 0.00007
NM_032806.6(POMGNT2):c.1406C>T (p.Pro469Leu) rs369787177 0.00006
NM_032806.6(POMGNT2):c.1593G>A (p.Glu531=) rs368787205 0.00006
NM_032806.6(POMGNT2):c.161C>T (p.Pro54Leu) rs748576103 0.00006
NM_032806.6(POMGNT2):c.219G>A (p.Thr73=) rs138728885 0.00006
NM_032806.6(POMGNT2):c.377A>G (p.Asn126Ser) rs750654109 0.00006
NM_032806.6(POMGNT2):c.396C>G (p.Phe132Leu) rs150567400 0.00006
NM_032806.6(POMGNT2):c.421C>T (p.Arg141Cys) rs150758981 0.00006
NM_032806.6(POMGNT2):c.646C>T (p.Leu216=) rs1403289209 0.00006
NM_032806.6(POMGNT2):c.829G>A (p.Val277Met) rs191081141 0.00006
NM_032806.6(POMGNT2):c.1009A>G (p.Asn337Asp) rs748310184 0.00005
NM_032806.6(POMGNT2):c.1083G>A (p.Val361=) rs765996959 0.00005
NM_032806.6(POMGNT2):c.1271G>A (p.Arg424His) rs775667995 0.00005
NM_032806.6(POMGNT2):c.12G>A (p.Ser4=) rs368531523 0.00005
NM_032806.6(POMGNT2):c.1334G>A (p.Arg445Gln) rs756644394 0.00005
NM_032806.6(POMGNT2):c.1415G>A (p.Arg472Gln) rs147074827 0.00005
NM_032806.6(POMGNT2):c.15G>A (p.Ala5=) rs570040029 0.00005
NM_032806.6(POMGNT2):c.214C>T (p.Arg72Cys) rs759054257 0.00005
NM_032806.6(POMGNT2):c.363C>T (p.Thr121=) rs200345083 0.00005
NM_032806.6(POMGNT2):c.445G>A (p.Val149Met) rs147163009 0.00005
NM_032806.6(POMGNT2):c.459C>T (p.Ala153=) rs373276653 0.00005
NM_032806.6(POMGNT2):c.51G>A (p.Ala17=) rs749826105 0.00005
NM_032806.6(POMGNT2):c.550G>A (p.Gly184Ser) rs368791726 0.00005
NM_032806.6(POMGNT2):c.1181G>A (p.Arg394Gln) rs199612856 0.00004
NM_032806.6(POMGNT2):c.1246C>T (p.His416Tyr) rs373885542 0.00004
NM_032806.6(POMGNT2):c.1660A>G (p.Thr554Ala) rs202058055 0.00004
NM_032806.6(POMGNT2):c.1725G>A (p.Val575=) rs371375820 0.00004
NM_032806.6(POMGNT2):c.1739C>T (p.Thr580Met) rs367621319 0.00004
NM_032806.6(POMGNT2):c.222C>T (p.His74=) rs141040291 0.00004
NM_032806.6(POMGNT2):c.230G>A (p.Arg77His) rs769075803 0.00004
NM_032806.6(POMGNT2):c.25G>A (p.Ala9Thr) rs761633368 0.00004
NM_032806.6(POMGNT2):c.286T>G (p.Phe96Val) rs140047437 0.00004
NM_032806.6(POMGNT2):c.30C>T (p.Leu10=) rs147920308 0.00004
NM_032806.6(POMGNT2):c.397G>A (p.Val133Met) rs139204684 0.00004
NM_032806.6(POMGNT2):c.437C>T (p.Pro146Leu) rs780964337 0.00004
NM_032806.6(POMGNT2):c.453C>T (p.Asp151=) rs547735064 0.00004
NM_032806.6(POMGNT2):c.510C>T (p.Asp170=) rs148958732 0.00004
NM_032806.6(POMGNT2):c.594C>T (p.Gly198=) rs766704217 0.00004
NM_032806.6(POMGNT2):c.598G>A (p.Gly200Ser) rs750647755 0.00004
NM_032806.6(POMGNT2):c.793C>T (p.Arg265Trp) rs753736893 0.00004
NM_032806.6(POMGNT2):c.896T>G (p.Leu299Arg) rs942782071 0.00004
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs) rs747569790 0.00003
NM_032806.6(POMGNT2):c.1276C>T (p.Leu426=) rs375062544 0.00003
NM_032806.6(POMGNT2):c.1286G>A (p.Arg429His) rs562988051 0.00003
NM_032806.6(POMGNT2):c.1313G>A (p.Arg438Gln) rs371405205 0.00003
NM_032806.6(POMGNT2):c.1387C>T (p.Arg463Cys) rs376177936 0.00003
NM_032806.6(POMGNT2):c.1389C>T (p.Arg463=) rs756556274 0.00003
NM_032806.6(POMGNT2):c.14C>T (p.Ala5Val) rs554958082 0.00003
NM_032806.6(POMGNT2):c.1514C>G (p.Ser505Cys) rs144799574 0.00003
NM_032806.6(POMGNT2):c.190G>A (p.Gly64Ser) rs548769646 0.00003
NM_032806.6(POMGNT2):c.232A>G (p.Ile78Val) rs377726627 0.00003
NM_032806.6(POMGNT2):c.238C>T (p.Arg80Cys) rs780388475 0.00003
NM_032806.6(POMGNT2):c.243C>G (p.Phe81Leu) rs373382346 0.00003
NM_032806.6(POMGNT2):c.484G>A (p.Asp162Asn) rs201407522 0.00003
NM_032806.6(POMGNT2):c.81G>A (p.Glu27=) rs201572917 0.00003
NM_032806.6(POMGNT2):c.856G>A (p.Glu286Lys) rs760408813 0.00003
NM_032806.6(POMGNT2):c.861G>A (p.Glu287=) rs187003222 0.00003
NM_032806.6(POMGNT2):c.997C>T (p.Arg333Trp) rs749833091 0.00003
NM_032806.6(POMGNT2):c.1030A>G (p.Met344Val) rs757138666 0.00002
NM_032806.6(POMGNT2):c.1122C>T (p.Tyr374=) rs777746219 0.00002
NM_032806.6(POMGNT2):c.1124C>T (p.Thr375Ile) rs762080004 0.00002
NM_032806.6(POMGNT2):c.1160A>C (p.Asp387Ala) rs2089837275 0.00002
NM_032806.6(POMGNT2):c.1195G>A (p.Glu399Lys) rs754794110 0.00002
NM_032806.6(POMGNT2):c.1232del (p.Gln411fs) rs755487513 0.00002
NM_032806.6(POMGNT2):c.123G>A (p.Gln41=) rs771662422 0.00002
NM_032806.6(POMGNT2):c.1285C>T (p.Arg429Cys) rs1299816126 0.00002
NM_032806.6(POMGNT2):c.1296A>G (p.Pro432=) rs373951159 0.00002
NM_032806.6(POMGNT2):c.1380C>T (p.Thr460=) rs375414490 0.00002
NM_032806.6(POMGNT2):c.1434C>T (p.Val478=) rs771980076 0.00002
NM_032806.6(POMGNT2):c.1507A>G (p.Thr503Ala) rs750683375 0.00002
NM_032806.6(POMGNT2):c.1567G>A (p.Glu523Lys) rs776146393 0.00002
NM_032806.6(POMGNT2):c.1603G>A (p.Val535Met) rs376906501 0.00002
NM_032806.6(POMGNT2):c.1681C>T (p.Arg561Cys) rs147477491 0.00002
NM_032806.6(POMGNT2):c.215G>A (p.Arg72His) rs774060112 0.00002
NM_032806.6(POMGNT2):c.265G>A (p.Glu89Lys) rs766108967 0.00002
NM_032806.6(POMGNT2):c.290A>T (p.His97Leu) rs762349670 0.00002
NM_032806.6(POMGNT2):c.328C>T (p.Arg110Trp) rs201938216 0.00002
NM_032806.6(POMGNT2):c.329G>A (p.Arg110Gln) rs772319958 0.00002
NM_032806.6(POMGNT2):c.357A>G (p.Leu119=) rs748074599 0.00002
NM_032806.6(POMGNT2):c.393C>T (p.Asn131=) rs750111000 0.00002
NM_032806.6(POMGNT2):c.409G>T (p.Ala137Ser) rs760916035 0.00002
NM_032806.6(POMGNT2):c.420G>A (p.Leu140=) rs1176941282 0.00002
NM_032806.6(POMGNT2):c.429G>T (p.Met143Ile) rs770987277 0.00002
NM_032806.6(POMGNT2):c.525C>T (p.Leu175=) rs956081683 0.00002
NM_032806.6(POMGNT2):c.588C>T (p.Gly196=) rs755425952 0.00002
NM_032806.6(POMGNT2):c.654A>G (p.Ala218=) rs144519422 0.00002
NM_032806.6(POMGNT2):c.673C>T (p.Arg225Trp) rs1209630896 0.00002
NM_032806.6(POMGNT2):c.705C>A (p.Gly235=) rs760894012 0.00002
NM_032806.6(POMGNT2):c.734A>G (p.Tyr245Cys) rs1001285393 0.00002
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) rs374042455 0.00002
NM_032806.6(POMGNT2):c.775G>A (p.Val259Ile) rs577129212 0.00002
NM_032806.6(POMGNT2):c.806G>A (p.Arg269Gln) rs752677359 0.00002
NM_032806.6(POMGNT2):c.850C>T (p.Leu284=) rs776247217 0.00002
NM_032806.6(POMGNT2):c.852A>G (p.Leu284=) rs1553618336 0.00002
NM_032806.6(POMGNT2):c.106C>T (p.Leu36=) rs753784723 0.00001
NM_032806.6(POMGNT2):c.1186A>G (p.Met396Val) rs769720860 0.00001
NM_032806.6(POMGNT2):c.122A>G (p.Gln41Arg) rs775109394 0.00001
NM_032806.6(POMGNT2):c.1234G>T (p.Gly412Trp) rs879819421 0.00001
NM_032806.6(POMGNT2):c.1255C>T (p.Arg419Trp) rs1473558367 0.00001
NM_032806.6(POMGNT2):c.1256G>A (p.Arg419Gln) rs764678016 0.00001
NM_032806.6(POMGNT2):c.1270C>T (p.Arg424Cys) rs761086834 0.00001
NM_032806.6(POMGNT2):c.1275C>T (p.Ile425=) rs1006094827 0.00001
NM_032806.6(POMGNT2):c.1320C>T (p.Pro440=) rs377725879 0.00001
NM_032806.6(POMGNT2):c.1321G>A (p.Glu441Lys) rs1195755326 0.00001
NM_032806.6(POMGNT2):c.1329C>T (p.Leu443=) rs778395477 0.00001
NM_032806.6(POMGNT2):c.1349C>G (p.Thr450Ser) rs759686826 0.00001
NM_032806.6(POMGNT2):c.1414C>T (p.Arg472Trp) rs143892607 0.00001
NM_032806.6(POMGNT2):c.1416G>A (p.Arg472=) rs775636761 0.00001
NM_032806.6(POMGNT2):c.1457G>A (p.Arg486Gln) rs770439944 0.00001
NM_032806.6(POMGNT2):c.1465C>T (p.Arg489Trp) rs748981500 0.00001
NM_032806.6(POMGNT2):c.1476G>A (p.Ala492=) rs371889758 0.00001
NM_032806.6(POMGNT2):c.1494C>T (p.Ser498=) rs751826847 0.00001
NM_032806.6(POMGNT2):c.1495G>A (p.Glu499Lys) rs947616009 0.00001
NM_032806.6(POMGNT2):c.1501C>T (p.Arg501Cys) rs780492743 0.00001
NM_032806.6(POMGNT2):c.1502G>A (p.Arg501His) rs758493413 0.00001
NM_032806.6(POMGNT2):c.154G>A (p.Asp52Asn) rs200869992 0.00001
NM_032806.6(POMGNT2):c.1551G>A (p.Val517=) rs772907296 0.00001
NM_032806.6(POMGNT2):c.1555G>A (p.Glu519Lys) rs747691921 0.00001
NM_032806.6(POMGNT2):c.1669C>T (p.Leu557=) rs1477248373 0.00001
NM_032806.6(POMGNT2):c.181A>G (p.Met61Val) rs747275058 0.00001
NM_032806.6(POMGNT2):c.188G>A (p.Gly63Asp) rs779938160 0.00001
NM_032806.6(POMGNT2):c.204G>A (p.Val68=) rs201432948 0.00001
NM_032806.6(POMGNT2):c.210G>A (p.Thr70=) rs767368543 0.00001
NM_032806.6(POMGNT2):c.229C>T (p.Arg77Cys) rs143806708 0.00001
NM_032806.6(POMGNT2):c.24C>T (p.Asn8=) rs780544642 0.00001
NM_032806.6(POMGNT2):c.262A>G (p.Asn88Asp) rs376220705 0.00001
NM_032806.6(POMGNT2):c.264C>T (p.Asn88=) rs572228301 0.00001
NM_032806.6(POMGNT2):c.326C>T (p.Ser109Phe) rs761158868 0.00001
NM_032806.6(POMGNT2):c.332G>A (p.Arg111His) rs778907895 0.00001
NM_032806.6(POMGNT2):c.342A>G (p.Pro114=) rs1401054879 0.00001
NM_032806.6(POMGNT2):c.351C>T (p.Leu117=) rs1161648391 0.00001
NM_032806.6(POMGNT2):c.359C>T (p.Ser120Phe) rs954166238 0.00001
NM_032806.6(POMGNT2):c.38C>T (p.Ser13Leu) rs550179595 0.00001
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His) rs387907300 0.00001
NM_032806.6(POMGNT2):c.479A>G (p.Asn160Ser) rs769772679 0.00001
NM_032806.6(POMGNT2):c.498C>T (p.His166=) rs748906775 0.00001
NM_032806.6(POMGNT2):c.509del (p.Asp170fs) rs2089847365 0.00001
NM_032806.6(POMGNT2):c.50C>T (p.Ala17Val) rs771302608 0.00001
NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn) rs768063378 0.00001
NM_032806.6(POMGNT2):c.516G>C (p.Leu172=) rs553884155 0.00001
NM_032806.6(POMGNT2):c.529T>A (p.Tyr177Asn) rs1372990845 0.00001
NM_032806.6(POMGNT2):c.549C>T (p.Pro183=) rs1023281263 0.00001
NM_032806.6(POMGNT2):c.566C>T (p.Ala189Val) rs770636157 0.00001
NM_032806.6(POMGNT2):c.569G>A (p.Arg190Gln) rs200080447 0.00001
NM_032806.6(POMGNT2):c.576C>T (p.Phe192=) rs755626367 0.00001
NM_032806.6(POMGNT2):c.590G>A (p.Trp197Ter) rs752069645 0.00001
NM_032806.6(POMGNT2):c.609C>T (p.Phe203=) rs765429374 0.00001
NM_032806.6(POMGNT2):c.620A>G (p.Lys207Arg) rs753930877 0.00001
NM_032806.6(POMGNT2):c.70C>T (p.Arg24Trp) rs756555077 0.00001
NM_032806.6(POMGNT2):c.748C>A (p.Pro250Thr) rs759226377 0.00001
NM_032806.6(POMGNT2):c.759G>A (p.Pro253=) rs981484756 0.00001
NM_032806.6(POMGNT2):c.785A>G (p.Asn262Ser) rs538914614 0.00001
NM_032806.6(POMGNT2):c.807G>A (p.Arg269=) rs1051665665 0.00001
NM_032806.6(POMGNT2):c.810C>G (p.Phe270Leu) rs2089842378 0.00001
NM_032806.6(POMGNT2):c.846C>T (p.Val282=) rs761657478 0.00001
NM_032806.6(POMGNT2):c.855C>T (p.Gly285=) rs763778888 0.00001
NM_032806.6(POMGNT2):c.865A>G (p.Ile289Val) rs368381386 0.00001
NM_032806.6(POMGNT2):c.950A>G (p.Lys317Arg) rs1207636018 0.00001
NM_032806.6(POMGNT2):c.961G>A (p.Val321Met) rs918587505 0.00001
NM_032806.6(POMGNT2):c.998G>A (p.Arg333Gln) rs772311128 0.00001
NC_000003.11:g.(?_43121161)_(43122943_?)dup
NC_000003.11:g.(?_43121181)_(43122923_?)del
NM_032806.6(POMGNT2):c.-43C>T rs2936818
NM_032806.6(POMGNT2):c.1000_1003del (p.Leu334fs) rs2089839448
NM_032806.6(POMGNT2):c.1007G>A (p.Ser336Asn) rs377756333
NM_032806.6(POMGNT2):c.1012G>A (p.Ala338Thr) rs2125700054
NM_032806.6(POMGNT2):c.1038G>T (p.Gly346=)
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter) rs1021357430
NM_032806.6(POMGNT2):c.1059C>G (p.Leu353=) rs2125700007
NM_032806.6(POMGNT2):c.1062C>A (p.Phe354Leu) rs2089838642
NM_032806.6(POMGNT2):c.1072G>A (p.Gly358Arg)
NM_032806.6(POMGNT2):c.1085T>C (p.Val362Ala)
NM_032806.6(POMGNT2):c.109G>A (p.Ala37Thr) rs1335685375
NM_032806.6(POMGNT2):c.1108A>G (p.Asn370Asp)
NM_032806.6(POMGNT2):c.1109A>G (p.Asn370Ser)
NM_032806.6(POMGNT2):c.1130A>G (p.Tyr377Cys)
NM_032806.6(POMGNT2):c.1136C>T (p.Thr379Met) rs918586203
NM_032806.6(POMGNT2):c.1137G>T (p.Thr379=) rs377724350
NM_032806.6(POMGNT2):c.1139T>C (p.Leu380Pro) rs750946944
NM_032806.6(POMGNT2):c.1149G>A (p.Leu383=)
NM_032806.6(POMGNT2):c.1156A>T (p.Met386Leu)
NM_032806.6(POMGNT2):c.1170T>G (p.Tyr390Ter)
NM_032806.6(POMGNT2):c.1173A>G (p.Val391=) rs1183137342
NM_032806.6(POMGNT2):c.1180C>G (p.Arg394Gly) rs146126985
NM_032806.6(POMGNT2):c.1180C>T (p.Arg394Trp) rs146126985
NM_032806.6(POMGNT2):c.118C>T (p.Arg40Ter) rs2089853535
NM_032806.6(POMGNT2):c.11C>T (p.Ser4Leu)
NM_032806.6(POMGNT2):c.1214C>G (p.Pro405Arg)
NM_032806.6(POMGNT2):c.1220G>A (p.Arg407Gln)
NM_032806.6(POMGNT2):c.1221G>T (p.Arg407=) rs2125699837
NM_032806.6(POMGNT2):c.1238G>C (p.Gly413Ala) rs1368751789
NM_032806.6(POMGNT2):c.1239C>T (p.Gly413=)
NM_032806.6(POMGNT2):c.1244C>T (p.Thr415Ile)
NM_032806.6(POMGNT2):c.1249C>A (p.Leu417Met) rs2089835416
NM_032806.6(POMGNT2):c.1258del (p.Ala420fs) rs1575461722
NM_032806.6(POMGNT2):c.1271G>T (p.Arg424Leu) rs775667995
NM_032806.6(POMGNT2):c.1277T>G (p.Leu426Arg)
NM_032806.6(POMGNT2):c.1291G>A (p.Val431Ile)
NM_032806.6(POMGNT2):c.1312C>G (p.Arg438Gly) rs758077352
NM_032806.6(POMGNT2):c.1312C>T (p.Arg438Trp) rs758077352
NM_032806.6(POMGNT2):c.1313G>T (p.Arg438Leu) rs371405205
NM_032806.6(POMGNT2):c.1326G>A (p.Trp442Ter) rs2125699699
NM_032806.6(POMGNT2):c.1333C>A (p.Arg445=) rs387907299
NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter) rs387907299
NM_032806.6(POMGNT2):c.1344G>A (p.Gln448=) rs767879383
NM_032806.6(POMGNT2):c.1350C>A (p.Thr450=) rs766467191
NM_032806.6(POMGNT2):c.1353G>C (p.Lys451Asn)
NM_032806.6(POMGNT2):c.1365G>T (p.Pro455=)
NM_032806.6(POMGNT2):c.1368C>T (p.Ser456=)
NM_032806.6(POMGNT2):c.1380C>A (p.Thr460=) rs375414490
NM_032806.6(POMGNT2):c.1385G>A (p.Arg462Gln) rs34083889
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889
NM_032806.6(POMGNT2):c.1403G>A (p.Arg468Gln)
NM_032806.6(POMGNT2):c.1404G>A (p.Arg468=)
NM_032806.6(POMGNT2):c.1409G>A (p.Gly470Glu)
NM_032806.6(POMGNT2):c.1419G>A (p.Lys473=)
NM_032806.6(POMGNT2):c.1446A>C (p.Pro482=)
NM_032806.6(POMGNT2):c.1459G>A (p.Glu487Lys) rs2089832147
NM_032806.6(POMGNT2):c.1479A>G (p.Ser493=)
NM_032806.6(POMGNT2):c.1489G>A (p.Ala497Thr)
NM_032806.6(POMGNT2):c.14C>A (p.Ala5Glu)
NM_032806.6(POMGNT2):c.1504C>G (p.Leu502Val) rs1369256836
NM_032806.6(POMGNT2):c.1510del (p.Val504fs)
NM_032806.6(POMGNT2):c.152T>C (p.Ile51Thr) rs1338816845
NM_032806.6(POMGNT2):c.1553G>A (p.Arg518Lys) rs2089830692
NM_032806.6(POMGNT2):c.1555G>T (p.Glu519Ter) rs747691921
NM_032806.6(POMGNT2):c.1568A>T (p.Glu523Val) rs1207150912
NM_032806.6(POMGNT2):c.1570G>A (p.Val524Met)
NM_032806.6(POMGNT2):c.1572G>A (p.Val524=)
NM_032806.6(POMGNT2):c.1587G>A (p.Gln529=)
NM_032806.6(POMGNT2):c.1591del (p.Glu531fs) rs2125699348
NM_032806.6(POMGNT2):c.1621C>T (p.Leu541=) rs753930965
NM_032806.6(POMGNT2):c.162G>T (p.Pro54=)
NM_032806.6(POMGNT2):c.1630C>G (p.His544Asp) rs2089829509
NM_032806.6(POMGNT2):c.1643A>G (p.Glu548Gly)
NM_032806.6(POMGNT2):c.1653G>A (p.Lys551=) rs2125699292
NM_032806.6(POMGNT2):c.1682G>A (p.Arg561His)
NM_032806.6(POMGNT2):c.1687A>G (p.Ile563Val) rs1316924045
NM_032806.6(POMGNT2):c.1697A>G (p.Lys566Arg)
NM_032806.6(POMGNT2):c.1701CCT[1] (p.Leu569del) rs2089828622
NM_032806.6(POMGNT2):c.1705C>T (p.Leu569=)
NM_032806.6(POMGNT2):c.170T>C (p.Leu57Pro)
NM_032806.6(POMGNT2):c.1716T>G (p.Phe572Leu) rs1575461128
NM_032806.6(POMGNT2):c.1716_1717dup (p.Ala573fs) rs2089828424
NM_032806.6(POMGNT2):c.1729G>T (p.Val577Leu)
NM_032806.6(POMGNT2):c.174G>C (p.Gln58His) rs2089852658
NM_032806.6(POMGNT2):c.177C>T (p.Ile59=)
NM_032806.6(POMGNT2):c.196C>G (p.His66Asp)
NM_032806.6(POMGNT2):c.200T>C (p.Met67Thr) rs2089852276
NM_032806.6(POMGNT2):c.209C>T (p.Thr70Met)
NM_032806.6(POMGNT2):c.218C>T (p.Thr73Met)
NM_032806.6(POMGNT2):c.260C>T (p.Ser87Phe) rs2125701000
NM_032806.6(POMGNT2):c.261C>T (p.Ser87=) rs1575463050
NM_032806.6(POMGNT2):c.263A>G (p.Asn88Ser)
NM_032806.6(POMGNT2):c.270T>C (p.Ala90=)
NM_032806.6(POMGNT2):c.283TTC[1] (p.Phe96del) rs767570675
NM_032806.6(POMGNT2):c.286T>C (p.Phe96Leu)
NM_032806.6(POMGNT2):c.28C>T (p.Leu10Phe)
NM_032806.6(POMGNT2):c.307A>G (p.Met103Val) rs2125700930
NM_032806.6(POMGNT2):c.321G>C (p.Leu107=) rs1575462988
NM_032806.6(POMGNT2):c.33G>C (p.Leu11=)
NM_032806.6(POMGNT2):c.341C>G (p.Pro114Arg)
NM_032806.6(POMGNT2):c.352G>A (p.Asp118Asn) rs2089849978
NM_032806.6(POMGNT2):c.363C>G (p.Thr121=) rs200345083
NM_032806.6(POMGNT2):c.364G>T (p.Val122Leu) rs149948290
NM_032806.6(POMGNT2):c.36G>T (p.Val12=)
NM_032806.6(POMGNT2):c.37T>G (p.Ser13Ala) rs2089855148
NM_032806.6(POMGNT2):c.380C>G (p.Thr127Ser) rs2125700845
NM_032806.6(POMGNT2):c.381_382del (p.Gln128fs)
NM_032806.6(POMGNT2):c.396C>T (p.Phe132=) rs150567400
NM_032806.6(POMGNT2):c.39G>A (p.Ser13=) rs59831271
NM_032806.6(POMGNT2):c.39G>C (p.Ser13=) rs59831271
NM_032806.6(POMGNT2):c.40del (p.Val14fs)
NM_032806.6(POMGNT2):c.410_411delinsG (p.Ala137fs) rs2125700808
NM_032806.6(POMGNT2):c.415G>C (p.Ala139Pro) rs2125700805
NM_032806.6(POMGNT2):c.424T>A (p.Phe142Ile) rs2125700782
NM_032806.6(POMGNT2):c.441G>T (p.Val147=) rs2089848677
NM_032806.6(POMGNT2):c.442T>C (p.Phe148Leu) rs1575462833
NM_032806.6(POMGNT2):c.451G>C (p.Asp151His) rs2089848441
NM_032806.6(POMGNT2):c.458C>G (p.Ala153Gly) rs1559414712
NM_032806.6(POMGNT2):c.466G>A (p.Ala156Thr) rs145184880
NM_032806.6(POMGNT2):c.471C>T (p.Asn157=)
NM_032806.6(POMGNT2):c.478A>C (p.Asn160His) rs773297624
NM_032806.6(POMGNT2):c.483C>T (p.Pro161=) rs548747822
NM_032806.6(POMGNT2):c.503T>C (p.Phe168Ser) rs2125700641
NM_032806.6(POMGNT2):c.513C>T (p.Asp171=) rs1575462703
NM_032806.6(POMGNT2):c.514C>T (p.Leu172=)
NM_032806.6(POMGNT2):c.528C>T (p.Phe176=) rs777276517
NM_032806.6(POMGNT2):c.531C>T (p.Tyr177=)
NM_032806.6(POMGNT2):c.535C>T (p.Leu179=)
NM_032806.6(POMGNT2):c.538C>A (p.Arg180=) rs371895867
NM_032806.6(POMGNT2):c.555G>A (p.Leu185=) rs564420247
NM_032806.6(POMGNT2):c.561C>G (p.His187Gln)
NM_032806.6(POMGNT2):c.562G>A (p.Glu188Lys)
NM_032806.6(POMGNT2):c.573C>T (p.Leu191=)
NM_032806.6(POMGNT2):c.580A>T (p.Met194Leu)
NM_032806.6(POMGNT2):c.582G>T (p.Met194Ile) rs1452053627
NM_032806.6(POMGNT2):c.595G>A (p.Glu199Lys)
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del) rs774277094
NM_032806.6(POMGNT2):c.610G>A (p.Asp204Asn) rs761923554
NM_032806.6(POMGNT2):c.622C>T (p.Leu208=)
NM_032806.6(POMGNT2):c.625C>T (p.Leu209Phe) rs140274895
NM_032806.6(POMGNT2):c.628A>G (p.Ser210Gly)
NM_032806.6(POMGNT2):c.629G>T (p.Ser210Ile) rs561770941
NM_032806.6(POMGNT2):c.632C>T (p.Pro211Leu)
NM_032806.6(POMGNT2):c.641C>G (p.Pro214Arg)
NM_032806.6(POMGNT2):c.652G>A (p.Ala218Thr) rs1559414478
NM_032806.6(POMGNT2):c.680T>A (p.Leu227Gln) rs1559414462
NM_032806.6(POMGNT2):c.681G>A (p.Leu227=) rs371425376
NM_032806.6(POMGNT2):c.681G>T (p.Leu227=) rs371425376
NM_032806.6(POMGNT2):c.702G>T (p.Val234=)
NM_032806.6(POMGNT2):c.703G>T (p.Gly235Cys)
NM_032806.6(POMGNT2):c.706C>T (p.Leu236Phe) rs2089843804
NM_032806.6(POMGNT2):c.717C>G (p.Ile239Met)
NM_032806.6(POMGNT2):c.723C>A (p.Thr241=)
NM_032806.6(POMGNT2):c.731A>G (p.Gln244Arg) rs2089843560
NM_032806.6(POMGNT2):c.735T>C (p.Tyr245=)
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter) rs1553618354
NM_032806.6(POMGNT2):c.747G>C (p.Gln249His) rs762976283
NM_032806.6(POMGNT2):c.749C>T (p.Pro250Leu)
NM_032806.6(POMGNT2):c.762G>T (p.Lys254Asn) rs115870061
NM_032806.6(POMGNT2):c.769A>G (p.Ile257Val)
NM_032806.6(POMGNT2):c.784A>G (p.Asn262Asp)
NM_032806.6(POMGNT2):c.786T>C (p.Asn262=)
NM_032806.6(POMGNT2):c.799T>A (p.Phe267Ile) rs778188247
NM_032806.6(POMGNT2):c.811A>C (p.Met271Leu)
NM_032806.6(POMGNT2):c.817_818del (p.Glu273fs)
NM_032806.6(POMGNT2):c.820_821del (p.Lys274fs) rs2125700249
NM_032806.6(POMGNT2):c.828C>A (p.Asn276Lys) rs150404794
NM_032806.6(POMGNT2):c.837C>G (p.His279Gln) rs2089842075
NM_032806.6(POMGNT2):c.837C>T (p.His279=) rs2089842075
NM_032806.6(POMGNT2):c.839C>G (p.Thr280Arg) rs1575462305
NM_032806.6(POMGNT2):c.844G>A (p.Val282Ile) rs2089841975
NM_032806.6(POMGNT2):c.859G>A (p.Glu287Lys) rs774815839
NM_032806.6(POMGNT2):c.881G>A (p.Arg294Gln)
NM_032806.6(POMGNT2):c.890A>G (p.Asn297Ser)
NM_032806.6(POMGNT2):c.891C>A (p.Asn297Lys) rs1269685677
NM_032806.6(POMGNT2):c.906T>G (p.Asn302Lys) rs781062694
NM_032806.6(POMGNT2):c.909G>A (p.Glu303=)
NM_032806.6(POMGNT2):c.915G>A (p.Glu305=)
NM_032806.6(POMGNT2):c.929T>C (p.Leu310Pro) rs2125700151
NM_032806.6(POMGNT2):c.931G>A (p.Ala311Thr) rs2089840767
NM_032806.6(POMGNT2):c.944A>G (p.Gln315Arg)
NM_032806.6(POMGNT2):c.979A>C (p.Thr327Pro) rs1343154694
NM_032806.6(POMGNT2):c.993C>T (p.Val331=)

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