ClinVar Miner

List of variants in gene B3GALNT2 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 400
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152490.5(B3GALNT2):c.321= (p.Glu107=) rs291396 0.53906
NM_152490.5(B3GALNT2):c.321G>A (p.Glu107=) rs291396 0.46094
NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys) rs61742900 0.00622
NM_152490.5(B3GALNT2):c.1361G>C (p.Arg454Thr) rs140350162 0.00163
NM_152490.5(B3GALNT2):c.361+19T>C rs190977329 0.00155
NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln) rs140708018 0.00074
NM_152490.5(B3GALNT2):c.276C>T (p.Phe92=) rs114039725 0.00070
NM_152490.5(B3GALNT2):c.402C>T (p.Asp134=) rs144848710 0.00064
NM_152490.5(B3GALNT2):c.1368+13G>T rs372425330 0.00046
NM_152490.5(B3GALNT2):c.369T>C (p.Asn123=) rs149734145 0.00036
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883 0.00032
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe) rs185213208 0.00032
NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=) rs145518904 0.00029
NM_152490.5(B3GALNT2):c.1151+14T>C rs376973193 0.00028
NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=) rs766891631 0.00024
NM_152490.5(B3GALNT2):c.465C>T (p.Ile155=) rs138058326 0.00022
NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu) rs140393851 0.00021
NM_152490.5(B3GALNT2):c.400G>C (p.Asp134His) rs370993648 0.00019
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842 0.00016
NM_152490.5(B3GALNT2):c.959T>C (p.Ile320Thr) rs148808160 0.00012
NM_152490.5(B3GALNT2):c.843A>G (p.Glu281=) rs543981282 0.00011
NM_152490.5(B3GALNT2):c.1214C>T (p.Pro405Leu) rs554797006 0.00010
NM_152490.5(B3GALNT2):c.279A>C (p.Ile93=) rs148341787 0.00010
NM_152490.5(B3GALNT2):c.579C>T (p.Phe193=) rs745391527 0.00010
NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile) rs151133469 0.00009
NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn) rs138443370 0.00008
NM_152490.5(B3GALNT2):c.361+13T>G rs367788823 0.00008
NM_152490.5(B3GALNT2):c.633A>G (p.Glu211=) rs746548557 0.00007
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys) rs773864097 0.00006
NM_152490.5(B3GALNT2):c.574C>T (p.Arg192Cys) rs144258088 0.00006
NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile) rs779469431 0.00006
NM_152490.5(B3GALNT2):c.1095T>C (p.Ala365=) rs751231735 0.00005
NM_152490.5(B3GALNT2):c.30G>A (p.Pro10=) rs986453979 0.00005
NM_152490.5(B3GALNT2):c.390T>C (p.Ser130=) rs139582216 0.00005
NM_152490.5(B3GALNT2):c.664A>G (p.Thr222Ala) rs375121424 0.00005
NM_152490.5(B3GALNT2):c.102C>G (p.Ala34=) rs1358930332 0.00004
NM_152490.5(B3GALNT2):c.1090G>A (p.Glu364Lys) rs138436770 0.00004
NM_152490.5(B3GALNT2):c.29C>G (p.Pro10Arg) rs1335073175 0.00004
NM_152490.5(B3GALNT2):c.31T>G (p.Cys11Gly) rs953296331 0.00004
NM_152490.5(B3GALNT2):c.396C>T (p.Ser132=) rs140100348 0.00004
NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys) rs146090744 0.00004
NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser) rs144123418 0.00004
NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met) rs781198538 0.00004
NM_152490.5(B3GALNT2):c.64C>T (p.Arg22Trp) rs962461243 0.00004
NM_152490.5(B3GALNT2):c.706A>G (p.Arg236Gly) rs113948040 0.00004
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn) rs753340395 0.00004
NM_152490.5(B3GALNT2):c.97G>A (p.Gly33Arg) rs1006228968 0.00004
NM_152490.5(B3GALNT2):c.1116A>G (p.Gln372=) rs777198285 0.00003
NM_152490.5(B3GALNT2):c.261-11A>G rs768326815 0.00003
NM_152490.5(B3GALNT2):c.537T>C (p.Leu179=) rs775836647 0.00003
NM_152490.5(B3GALNT2):c.978C>T (p.Val326=) rs368371048 0.00003
NM_152490.5(B3GALNT2):c.1040C>T (p.Thr347Met) rs746993541 0.00002
NM_152490.5(B3GALNT2):c.1092A>G (p.Glu364=) rs565049275 0.00002
NM_152490.5(B3GALNT2):c.134A>G (p.Gln45Arg) rs760940955 0.00002
NM_152490.5(B3GALNT2):c.249A>T (p.Thr83=) rs770930732 0.00002
NM_152490.5(B3GALNT2):c.258A>G (p.Gln86=) rs369467106 0.00002
NM_152490.5(B3GALNT2):c.362-12C>T rs546633200 0.00002
NM_152490.5(B3GALNT2):c.427C>T (p.Arg143Ter) rs762259872 0.00002
NM_152490.5(B3GALNT2):c.699T>C (p.Leu233=) rs368068535 0.00002
NM_152490.5(B3GALNT2):c.762+8del rs754890407 0.00002
NM_152490.5(B3GALNT2):c.897T>C (p.His299=) rs781287494 0.00002
NM_152490.5(B3GALNT2):c.1025+15T>C rs1445379451 0.00001
NM_152490.5(B3GALNT2):c.1026-8G>T rs765661953 0.00001
NM_152490.5(B3GALNT2):c.1041G>A (p.Thr347=) rs775702524 0.00001
NM_152490.5(B3GALNT2):c.1065A>G (p.Thr355=) rs373246690 0.00001
NM_152490.5(B3GALNT2):c.1081A>G (p.Ile361Val) rs1470669806 0.00001
NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=) rs1057522976 0.00001
NM_152490.5(B3GALNT2):c.1104T>C (p.Asn368=) rs765751968 0.00001
NM_152490.5(B3GALNT2):c.1152-15T>C rs764693057 0.00001
NM_152490.5(B3GALNT2):c.1182C>T (p.Thr394=) rs373186743 0.00001
NM_152490.5(B3GALNT2):c.1197G>A (p.Glu399=) rs1398625005 0.00001
NM_152490.5(B3GALNT2):c.1208C>T (p.Pro403Leu) rs369378819 0.00001
NM_152490.5(B3GALNT2):c.1216G>A (p.Ala406Thr) rs369079608 0.00001
NM_152490.5(B3GALNT2):c.1286A>G (p.Asn429Ser) rs1374738059 0.00001
NM_152490.5(B3GALNT2):c.1308T>C (p.Tyr436=) rs371512953 0.00001
NM_152490.5(B3GALNT2):c.1311+1G>C rs1379052702 0.00001
NM_152490.5(B3GALNT2):c.1324A>T (p.Ser442Cys) rs1041647688 0.00001
NM_152490.5(B3GALNT2):c.1368+1G>A rs1479230229 0.00001
NM_152490.5(B3GALNT2):c.1A>G (p.Met1Val) rs763641118 0.00001
NM_152490.5(B3GALNT2):c.205G>A (p.Val69Met) rs534508633 0.00001
NM_152490.5(B3GALNT2):c.254G>A (p.Ser85Asn) rs947223231 0.00001
NM_152490.5(B3GALNT2):c.384G>A (p.Ala128=) rs1049290415 0.00001
NM_152490.5(B3GALNT2):c.411G>A (p.Ser137=) rs1443841724 0.00001
NM_152490.5(B3GALNT2):c.428G>A (p.Arg143Gln) rs1256983608 0.00001
NM_152490.5(B3GALNT2):c.434T>C (p.Val145Ala) rs1684704696 0.00001
NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr) rs997345764 0.00001
NM_152490.5(B3GALNT2):c.444T>C (p.Ser148=) rs780140983 0.00001
NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter) rs1282726649 0.00001
NM_152490.5(B3GALNT2):c.461C>G (p.Pro154Arg) rs1684702121 0.00001
NM_152490.5(B3GALNT2):c.463A>G (p.Ile155Val) rs753582080 0.00001
NM_152490.5(B3GALNT2):c.492C>T (p.Tyr164=) rs1363202163 0.00001
NM_152490.5(B3GALNT2):c.493G>A (p.Asp165Asn) rs377646173 0.00001
NM_152490.5(B3GALNT2):c.555+12T>C rs1277419946 0.00001
NM_152490.5(B3GALNT2):c.555+5G>A rs373909279 0.00001
NM_152490.5(B3GALNT2):c.556-8A>G rs776132593 0.00001
NM_152490.5(B3GALNT2):c.602A>C (p.Gln201Pro) rs1372895091 0.00001
NM_152490.5(B3GALNT2):c.61C>A (p.Leu21Met) rs1185149901 0.00001
NM_152490.5(B3GALNT2):c.688C>T (p.Leu230Phe) rs768629547 0.00001
NM_152490.5(B3GALNT2):c.694G>A (p.Gly232Ser) rs775573521 0.00001
NM_152490.5(B3GALNT2):c.69G>T (p.Leu23=) rs1234413183 0.00001
NM_152490.5(B3GALNT2):c.700G>T (p.Val234Leu) rs778248252 0.00001
NM_152490.5(B3GALNT2):c.723G>A (p.Val241=) rs777394575 0.00001
NM_152490.5(B3GALNT2):c.733G>T (p.Asp245Tyr) rs751860328 0.00001
NM_152490.5(B3GALNT2):c.737G>A (p.Gly246Glu) rs1057523985 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 0.00001
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274 0.00001
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074 0.00001
NM_152490.5(B3GALNT2):c.826A>G (p.Ile276Val) rs533620649 0.00001
NM_152490.5(B3GALNT2):c.833C>T (p.Thr278Ile) rs565013842 0.00001
NM_152490.5(B3GALNT2):c.842-1G>A rs764784497 0.00001
NM_152490.5(B3GALNT2):c.842-4A>G rs750335648 0.00001
NM_152490.5(B3GALNT2):c.842-6T>G rs1187623137 0.00001
NM_152490.5(B3GALNT2):c.845G>A (p.Gly282Asp) rs776153145 0.00001
NM_152490.5(B3GALNT2):c.893A>G (p.Asp298Gly) rs1170718692 0.00001
NM_152490.5(B3GALNT2):c.92C>T (p.Ala31Val) rs1286920217 0.00001
NM_152490.5(B3GALNT2):c.954T>A (p.Asp318Glu) rs994102365 0.00001
NM_152490.5(B3GALNT2):c.989G>A (p.Arg330His) rs771483345 0.00001
NC_000001.10:g.(?_235612376)_(235616407_?)del
NC_000001.10:g.(?_235613501)_(235667572_?)dup
NC_000001.10:g.(?_235613511)_(235629041_?)dup
NC_000001.10:g.(?_235613511)_(235658148_?)dup
NC_000001.10:g.(?_235613511)_(235667562_?)dup
NC_000001.10:g.(?_235616382)_(235643485_?)del
NC_000001.10:g.(?_235628933)_(235629051_?)del
NC_000001.10:g.(?_235634154)_(235647841_?)dup
NC_000001.10:g.(?_235634154)_(235667552_?)dup
NC_000001.10:g.(?_235652463)_(235658148_?)dup
NC_000001.11:g.(?_235465599)_(235465734_?)del
NC_000001.11:g.(?_235470840)_(235470970_?)dup
NC_000001.11:g.235455553ACTT[3]
NM_152490.5(B3GALNT2):c.-138=
NM_152490.5(B3GALNT2):c.1009T>C (p.Leu337=)
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser) rs1553343724
NM_152490.5(B3GALNT2):c.1014C>T (p.Asn338=) rs2102789767
NM_152490.5(B3GALNT2):c.1020_1021dup (p.Arg341fs) rs1276205801
NM_152490.5(B3GALNT2):c.1025+13A>T
NM_152490.5(B3GALNT2):c.1025+14A>C
NM_152490.5(B3GALNT2):c.1025+16G>T rs1005203212
NM_152490.5(B3GALNT2):c.1025+17_1025+19del
NM_152490.5(B3GALNT2):c.1025+4G>C rs770371145
NM_152490.5(B3GALNT2):c.1026-13T>C
NM_152490.5(B3GALNT2):c.1026-18T>C
NM_152490.5(B3GALNT2):c.1026-5A>T
NM_152490.5(B3GALNT2):c.1026G>T (p.Trp342Cys)
NM_152490.5(B3GALNT2):c.102C>T (p.Ala34=) rs1358930332
NM_152490.5(B3GALNT2):c.1030G>A (p.Val344Met)
NM_152490.5(B3GALNT2):c.1032G>A (p.Val344=)
NM_152490.5(B3GALNT2):c.1034A>G (p.Glu345Gly)
NM_152490.5(B3GALNT2):c.1035AAC[1] (p.Thr347del) rs2102784848
NM_152490.5(B3GALNT2):c.1038A>G (p.Thr346=)
NM_152490.5(B3GALNT2):c.1039A>C (p.Thr347Pro)
NM_152490.5(B3GALNT2):c.1039dup (p.Thr347fs) rs2102784860
NM_152490.5(B3GALNT2):c.103G>A (p.Gly35Ser) rs1355670872
NM_152490.5(B3GALNT2):c.1048A>C (p.Asn350His)
NM_152490.5(B3GALNT2):c.1050T>C (p.Asn350=)
NM_152490.5(B3GALNT2):c.1051T>C (p.Leu351=)
NM_152490.5(B3GALNT2):c.1052T>G (p.Leu351Trp) rs772233739
NM_152490.5(B3GALNT2):c.1056G>A (p.Leu352=)
NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val) rs1553342995
NM_152490.5(B3GALNT2):c.1057C>T (p.Leu353=)
NM_152490.5(B3GALNT2):c.1066_1067del (p.Thr355_Asp356insTer) rs781339765
NM_152490.5(B3GALNT2):c.1069G>C (p.Asp357His)
NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr) rs1553342979
NM_152490.5(B3GALNT2):c.107C>G (p.Pro36Arg) rs1553356108
NM_152490.5(B3GALNT2):c.1081A>C (p.Ile361Leu) rs1470669806
NM_152490.5(B3GALNT2):c.1088T>G (p.Leu363Arg)
NM_152490.5(B3GALNT2):c.1099T>G (p.Phe367Val)
NM_152490.5(B3GALNT2):c.10T>C (p.Trp4Arg) rs1553356208
NM_152490.5(B3GALNT2):c.1108A>T (p.Ile370Phe) rs1553342963
NM_152490.5(B3GALNT2):c.112+10T>G rs1572574802
NM_152490.5(B3GALNT2):c.112+14G>A
NM_152490.5(B3GALNT2):c.112+9C>T rs1055699299
NM_152490.5(B3GALNT2):c.113-1376C>T rs1572560402
NM_152490.5(B3GALNT2):c.113-1439dup rs1572560624
NM_152490.5(B3GALNT2):c.113-14G>A
NM_152490.5(B3GALNT2):c.113-14_113-12del
NM_152490.5(B3GALNT2):c.113-19G>A rs2102863411
NM_152490.5(B3GALNT2):c.113-1G>C rs2102863392
NM_152490.5(B3GALNT2):c.1131G>A (p.Gly377=)
NM_152490.5(B3GALNT2):c.1143G>A (p.Trp381Ter)
NM_152490.5(B3GALNT2):c.1151+2T>C
NM_152490.5(B3GALNT2):c.1152-17A>G
NM_152490.5(B3GALNT2):c.1152-19A>G rs1553342808
NM_152490.5(B3GALNT2):c.1177C>G (p.Arg393Gly)
NM_152490.5(B3GALNT2):c.1177C>T (p.Arg393Ter) rs1300792331
NM_152490.5(B3GALNT2):c.1187A>G (p.Lys396Arg)
NM_152490.5(B3GALNT2):c.1188G>A (p.Lys396=) rs2102782719
NM_152490.5(B3GALNT2):c.1207C>T (p.Pro403Ser) rs1683062458
NM_152490.5(B3GALNT2):c.1209G>A (p.Pro403=)
NM_152490.5(B3GALNT2):c.1209_1257dup (p.Lys420fs)
NM_152490.5(B3GALNT2):c.1211G>C (p.Ser404Thr)
NM_152490.5(B3GALNT2):c.1217C>T (p.Ala406Val)
NM_152490.5(B3GALNT2):c.1223C>G (p.Pro408Arg)
NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs) rs1553342786
NM_152490.5(B3GALNT2):c.1233A>T (p.Ala411=) rs1683061203
NM_152490.5(B3GALNT2):c.1244G>A (p.Gly415Glu)
NM_152490.5(B3GALNT2):c.1245A>T (p.Gly415=) rs1683060580
NM_152490.5(B3GALNT2):c.1255T>A (p.Ser419Thr) rs1281464527
NM_152490.5(B3GALNT2):c.1257C>T (p.Ser419=)
NM_152490.5(B3GALNT2):c.1266C>T (p.Ile422=) rs762656574
NM_152490.5(B3GALNT2):c.1275_1278delinsCCT (p.Trp425fs) rs1683058752
NM_152490.5(B3GALNT2):c.1279G>T (p.Ala427Ser) rs773466522
NM_152490.5(B3GALNT2):c.1289C>T (p.Ser430Leu)
NM_152490.5(B3GALNT2):c.1290G>A (p.Ser430=) rs1572482699
NM_152490.5(B3GALNT2):c.1293G>A (p.Gly431=)
NM_152490.5(B3GALNT2):c.1304C>A (p.Thr435Asn) rs1683057478
NM_152490.5(B3GALNT2):c.1307A>G (p.Tyr436Cys)
NM_152490.5(B3GALNT2):c.1311+15C>A rs2102782415
NM_152490.5(B3GALNT2):c.1311+1G>A rs1379052702
NM_152490.5(B3GALNT2):c.1311+9_1311+11del rs1572482653
NM_152490.5(B3GALNT2):c.1312-16T>C
NM_152490.5(B3GALNT2):c.1312-8A>G rs2102780564
NM_152490.5(B3GALNT2):c.1315G>T (p.Glu439Ter)
NM_152490.5(B3GALNT2):c.1318G>A (p.Asp440Asn) rs1683005563
NM_152490.5(B3GALNT2):c.1337G>A (p.Trp446Ter)
NM_152490.5(B3GALNT2):c.1338G>A (p.Trp446Ter) rs2102780481
NM_152490.5(B3GALNT2):c.133C>T (p.Gln45Ter) rs1685241606
NM_152490.5(B3GALNT2):c.1366C>A (p.Gln456Lys)
NM_152490.5(B3GALNT2):c.1368+1G>C rs1479230229
NM_152490.5(B3GALNT2):c.1368+3A>G rs1558407116
NM_152490.5(B3GALNT2):c.150C>T (p.His50=) rs774499951
NM_152490.5(B3GALNT2):c.155A>T (p.Asp52Val) rs777105173
NM_152490.5(B3GALNT2):c.168C>T (p.Gly56=)
NM_152490.5(B3GALNT2):c.16G>A (p.Val6Met) rs2102880612
NM_152490.5(B3GALNT2):c.177A>G (p.Ser59=) rs2102863197
NM_152490.5(B3GALNT2):c.178G>C (p.Ala60Pro)
NM_152490.5(B3GALNT2):c.180T>G (p.Ala60=)
NM_152490.5(B3GALNT2):c.181C>T (p.Arg61Cys)
NM_152490.5(B3GALNT2):c.182G>A (p.Arg61His)
NM_152490.5(B3GALNT2):c.184A>G (p.Asn62Asp) rs1352782835
NM_152490.5(B3GALNT2):c.185A>G (p.Asn62Ser)
NM_152490.5(B3GALNT2):c.192T>C (p.His64=)
NM_152490.5(B3GALNT2):c.193G>T (p.Glu65Ter)
NM_152490.5(B3GALNT2):c.199C>T (p.Arg67Ter) rs760816239
NM_152490.5(B3GALNT2):c.204C>T (p.Asn68=) rs1057182171
NM_152490.5(B3GALNT2):c.206T>G (p.Val69Gly)
NM_152490.5(B3GALNT2):c.210AAG[1] (p.Arg71del)
NM_152490.5(B3GALNT2):c.215G>A (p.Ser72Asn)
NM_152490.5(B3GALNT2):c.216C>T (p.Ser72=)
NM_152490.5(B3GALNT2):c.218C>G (p.Thr73Ser) rs372008334
NM_152490.5(B3GALNT2):c.219C>T (p.Thr73=)
NM_152490.5(B3GALNT2):c.220T>G (p.Trp74Gly)
NM_152490.5(B3GALNT2):c.22C>G (p.Leu8Val) rs1685731091
NM_152490.5(B3GALNT2):c.23T>G (p.Leu8Arg) rs1437958242
NM_152490.5(B3GALNT2):c.245C>G (p.Pro82Arg)
NM_152490.5(B3GALNT2):c.253dup (p.Ser85fs)
NM_152490.5(B3GALNT2):c.257A>C (p.Gln86Pro)
NM_152490.5(B3GALNT2):c.259C>G (p.Arg87Gly) rs747653180
NM_152490.5(B3GALNT2):c.259C>T (p.Arg87Cys)
NM_152490.5(B3GALNT2):c.260+11T>G rs779108946
NM_152490.5(B3GALNT2):c.260+18T>C
NM_152490.5(B3GALNT2):c.261-17G>A
NM_152490.5(B3GALNT2):c.261-2A>G
NM_152490.5(B3GALNT2):c.261-7C>A
NM_152490.5(B3GALNT2):c.266T>C (p.Leu89Pro)
NM_152490.5(B3GALNT2):c.268G>T (p.Val90Leu) rs371613038
NM_152490.5(B3GALNT2):c.27C>A (p.Cys9Ter) rs1685730083
NM_152490.5(B3GALNT2):c.280A>G (p.Ile94Val)
NM_152490.5(B3GALNT2):c.290A>G (p.His97Arg)
NM_152490.5(B3GALNT2):c.29C>A (p.Pro10Gln)
NM_152490.5(B3GALNT2):c.305C>G (p.Pro102Arg)
NM_152490.5(B3GALNT2):c.308_309del (p.Val103fs) rs367543070
NM_152490.5(B3GALNT2):c.30G>T (p.Pro10=)
NM_152490.5(B3GALNT2):c.310G>A (p.Glu104Lys)
NM_152490.5(B3GALNT2):c.322G>A (p.Asp108Asn) rs920430546
NM_152490.5(B3GALNT2):c.335G>A (p.Cys112Tyr)
NM_152490.5(B3GALNT2):c.339A>G (p.Lys113=) rs575352096
NM_152490.5(B3GALNT2):c.33T>G (p.Cys11Trp)
NM_152490.5(B3GALNT2):c.347A>G (p.Asn116Ser) rs1572547857
NM_152490.5(B3GALNT2):c.355A>C (p.Asn119His)
NM_152490.5(B3GALNT2):c.356A>T (p.Asn119Ile)
NM_152490.5(B3GALNT2):c.361+20G>A
NM_152490.5(B3GALNT2):c.362-10C>T
NM_152490.5(B3GALNT2):c.362-12C>G
NM_152490.5(B3GALNT2):c.362-1G>C rs2102844404
NM_152490.5(B3GALNT2):c.362-20A>G
NM_152490.5(B3GALNT2):c.362-5C>G
NM_152490.5(B3GALNT2):c.379G>A (p.Glu127Lys)
NM_152490.5(B3GALNT2):c.37C>T (p.Leu13Phe)
NM_152490.5(B3GALNT2):c.383C>T (p.Ala128Val) rs1572539209
NM_152490.5(B3GALNT2):c.388_395del (p.Ser130fs)
NM_152490.5(B3GALNT2):c.391C>T (p.Leu131=)
NM_152490.5(B3GALNT2):c.40G>C (p.Gly14Arg)
NM_152490.5(B3GALNT2):c.40_57del (p.Gly14_Leu19del)
NM_152490.5(B3GALNT2):c.419C>T (p.Pro140Leu)
NM_152490.5(B3GALNT2):c.41G>C (p.Gly14Ala) rs2102880495
NM_152490.5(B3GALNT2):c.436A>C (p.Ser146Arg) rs1684704587
NM_152490.5(B3GALNT2):c.438C>T (p.Ser146=)
NM_152490.5(B3GALNT2):c.439G>A (p.Val147Met) rs143983025
NM_152490.5(B3GALNT2):c.439G>C (p.Val147Leu) rs143983025
NM_152490.5(B3GALNT2):c.458A>G (p.Tyr153Cys) rs757111780
NM_152490.5(B3GALNT2):c.458A>T (p.Tyr153Phe) rs757111780
NM_152490.5(B3GALNT2):c.460C>G (p.Pro154Ala)
NM_152490.5(B3GALNT2):c.461C>T (p.Pro154Leu)
NM_152490.5(B3GALNT2):c.46G>A (p.Ala16Thr) rs1685727749
NM_152490.5(B3GALNT2):c.470T>G (p.Ile157Ser)
NM_152490.5(B3GALNT2):c.475A>G (p.Ser159Gly)
NM_152490.5(B3GALNT2):c.476G>A (p.Ser159Asn)
NM_152490.5(B3GALNT2):c.479T>C (p.Leu160Pro) rs2102843967
NM_152490.5(B3GALNT2):c.498C>T (p.Ala166=)
NM_152490.5(B3GALNT2):c.4C>A (p.Arg2=)
NM_152490.5(B3GALNT2):c.519G>A (p.Arg173=)
NM_152490.5(B3GALNT2):c.51G>T (p.Leu17=)
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs) rs367543069
NM_152490.5(B3GALNT2):c.538T>C (p.Tyr180His) rs772253366
NM_152490.5(B3GALNT2):c.555+6C>T
NM_152490.5(B3GALNT2):c.555+7=
NM_152490.5(B3GALNT2):c.558G>A (p.Glu186=) rs2102834901
NM_152490.5(B3GALNT2):c.564C>T (p.Leu188=) rs1684490953
NM_152490.5(B3GALNT2):c.575G>T (p.Arg192Leu)
NM_152490.5(B3GALNT2):c.57C>T (p.Leu19=) rs1572574971
NM_152490.5(B3GALNT2):c.588A>G (p.Pro196=) rs773287935
NM_152490.5(B3GALNT2):c.59G>A (p.Trp20Ter) rs2102880436
NM_152490.5(B3GALNT2):c.606G>T (p.Val202=) rs2102834750
NM_152490.5(B3GALNT2):c.608A>G (p.Asn203Ser) rs1684487405
NM_152490.5(B3GALNT2):c.620A>G (p.Tyr207Cys)
NM_152490.5(B3GALNT2):c.627C>T (p.Pro209=)
NM_152490.5(B3GALNT2):c.629T>G (p.Val210Gly) rs754911016
NM_152490.5(B3GALNT2):c.636A>G (p.Gln212=)
NM_152490.5(B3GALNT2):c.63G>A (p.Leu21=) rs2102880423
NM_152490.5(B3GALNT2):c.643T>G (p.Leu215Val) rs2102834613
NM_152490.5(B3GALNT2):c.651+3A>G
NM_152490.5(B3GALNT2):c.651+5A>G
NM_152490.5(B3GALNT2):c.652-12T>C rs2102815609
NM_152490.5(B3GALNT2):c.652-18T>A
NM_152490.5(B3GALNT2):c.652-1G>C rs2102815577
NM_152490.5(B3GALNT2):c.652-2A>G rs1553347936
NM_152490.5(B3GALNT2):c.652-4A>G rs1683974448
NM_152490.5(B3GALNT2):c.654C>T (p.Ser218=)
NM_152490.5(B3GALNT2):c.658G>A (p.Glu220Lys) rs766801682
NM_152490.5(B3GALNT2):c.669C>T (p.Ile223=)
NM_152490.5(B3GALNT2):c.670G>A (p.Val224Met)
NM_152490.5(B3GALNT2):c.690C>T (p.Leu230=)
NM_152490.5(B3GALNT2):c.691C>T (p.His231Tyr) rs945312438
NM_152490.5(B3GALNT2):c.696C>A (p.Gly232=)
NM_152490.5(B3GALNT2):c.699del (p.Val234fs) rs1572513308
NM_152490.5(B3GALNT2):c.701T>C (p.Val234Ala)
NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu) rs755405777
NM_152490.5(B3GALNT2):c.72C>T (p.Arg24=)
NM_152490.5(B3GALNT2):c.730A>G (p.Asn244Asp)
NM_152490.5(B3GALNT2):c.734A>G (p.Asp245Gly) rs1683966257
NM_152490.5(B3GALNT2):c.735T>G (p.Asp245Glu)
NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro) rs1685725563
NM_152490.5(B3GALNT2):c.744A>T (p.Gly248=)
NM_152490.5(B3GALNT2):c.748C>A (p.Leu250Ile) rs1683965217
NM_152490.5(B3GALNT2):c.752G>C (p.Arg251Thr)
NM_152490.5(B3GALNT2):c.753del (p.Val252fs) rs2102815215
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.5(B3GALNT2):c.756C>A (p.Val252=) rs765281101
NM_152490.5(B3GALNT2):c.75C>T (p.Ser25=) rs1244053981
NM_152490.5(B3GALNT2):c.762+11T>C
NM_152490.5(B3GALNT2):c.762+12T>C
NM_152490.5(B3GALNT2):c.762+16_762+17dup rs555883725
NM_152490.5(B3GALNT2):c.762+17del rs555883725
NM_152490.5(B3GALNT2):c.762+7C>T
NM_152490.5(B3GALNT2):c.762+8G>A rs77267353
NM_152490.5(B3GALNT2):c.762+8G>T rs77267353
NM_152490.5(B3GALNT2):c.762+9T>G
NM_152490.5(B3GALNT2):c.762+9dup rs555883725
NM_152490.5(B3GALNT2):c.763-10T>C rs747403347
NM_152490.5(B3GALNT2):c.763-1G>A rs780433836
NM_152490.5(B3GALNT2):c.763-6T>C
NM_152490.5(B3GALNT2):c.770dup (p.Ala259fs) rs1064793673
NM_152490.5(B3GALNT2):c.779T>A (p.Leu260Ter)
NM_152490.5(B3GALNT2):c.785A>C (p.His262Pro)
NM_152490.5(B3GALNT2):c.807G>A (p.Glu269=) rs1436382802
NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val) rs1558417340
NM_152490.5(B3GALNT2):c.81G>A (p.Pro27=)
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.835A>C (p.Ile279Leu) rs1683655820
NM_152490.5(B3GALNT2):c.839A>T (p.Gln280Leu)
NM_152490.5(B3GALNT2):c.841+1G>T
NM_152490.5(B3GALNT2):c.842-1G>C rs764784497
NM_152490.5(B3GALNT2):c.842-3T>C rs1247622470
NM_152490.5(B3GALNT2):c.842-3T>G rs1247622470
NM_152490.5(B3GALNT2):c.84C>T (p.Pro28=) rs1572574900
NM_152490.5(B3GALNT2):c.85G>T (p.Ala29Ser)
NM_152490.5(B3GALNT2):c.861C>T (p.His287=)
NM_152490.5(B3GALNT2):c.863A>G (p.Asn288Ser) rs2102790139
NM_152490.5(B3GALNT2):c.86C>A (p.Ala29Asp)
NM_152490.5(B3GALNT2):c.874C>T (p.Arg292Cys) rs1683282264
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro) rs367543076
NM_152490.5(B3GALNT2):c.882A>G (p.Gln294=) rs2102790078
NM_152490.5(B3GALNT2):c.886C>T (p.Leu296Phe) rs1683281659
NM_152490.5(B3GALNT2):c.895C>G (p.His299Asp) rs1007114210
NM_152490.5(B3GALNT2):c.896A>G (p.His299Arg) rs955249712
NM_152490.5(B3GALNT2):c.903dup (p.Asn302fs) rs1469279569
NM_152490.5(B3GALNT2):c.905A>G (p.Asn302Ser)
NM_152490.5(B3GALNT2):c.907C>G (p.Leu303Val)
NM_152490.5(B3GALNT2):c.91G>A (p.Ala31Thr) rs1685723778
NM_152490.5(B3GALNT2):c.922G>A (p.Ala308Thr)
NM_152490.5(B3GALNT2):c.936G>A (p.Glu312=) rs554067980
NM_152490.5(B3GALNT2):c.947dup (p.Tyr317fs)
NM_152490.5(B3GALNT2):c.94_96del (p.Ser32del) rs1169838120
NM_152490.5(B3GALNT2):c.951T>C (p.Tyr317=)
NM_152490.5(B3GALNT2):c.952GAT[1] (p.Asp319del)
NM_152490.5(B3GALNT2):c.960T>C (p.Ile320=)
NM_152490.5(B3GALNT2):c.974T>C (p.Val325Ala)
NM_152490.5(B3GALNT2):c.984_985del (p.Tyr329fs)
NM_152490.5(B3GALNT2):c.99G>A (p.Gly33=)

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