ClinVar Miner

List of variants in gene B3GALNT2 reported as uncertain significance for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

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Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln) rs140708018 0.00074
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.410C>T (p.Ser137Leu) rs140393851 0.00021
NM_152490.5(B3GALNT2):c.400G>C (p.Asp134His) rs370993648 0.00019
NM_152490.5(B3GALNT2):c.959T>C (p.Ile320Thr) rs148808160 0.00012
NM_152490.5(B3GALNT2):c.1214C>T (p.Pro405Leu) rs554797006 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.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.664A>G (p.Thr222Ala) rs375121424 0.00005
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.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 0.00003
NM_152490.5(B3GALNT2):c.1040C>T (p.Thr347Met) rs746993541 0.00002
NM_152490.5(B3GALNT2):c.134A>G (p.Gln45Arg) rs760940955 0.00002
NM_152490.5(B3GALNT2):c.1081A>G (p.Ile361Val) rs1470669806 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.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.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.461C>G (p.Pro154Arg) rs1684702121 0.00001
NM_152490.5(B3GALNT2):c.463A>G (p.Ile155Val) rs753582080 0.00001
NM_152490.5(B3GALNT2):c.493G>A (p.Asp165Asn) rs377646173 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.700G>T (p.Val234Leu) rs778248252 0.00001
NM_152490.5(B3GALNT2):c.733G>T (p.Asp245Tyr) rs751860328 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 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.842-6T>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.(?_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.(?_235634154)_(235667552_?)dup
NC_000001.10:g.(?_235652463)_(235658148_?)dup
NC_000001.11:g.(?_235470840)_(235470970_?)dup
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser) rs1553343724
NM_152490.5(B3GALNT2):c.1025+4G>C rs770371145
NM_152490.5(B3GALNT2):c.1026G>T (p.Trp342Cys)
NM_152490.5(B3GALNT2):c.1030G>A (p.Val344Met)
NM_152490.5(B3GALNT2):c.1034A>G (p.Glu345Gly)
NM_152490.5(B3GALNT2):c.1035AAC[1] (p.Thr347del) rs2102784848
NM_152490.5(B3GALNT2):c.1039A>C (p.Thr347Pro)
NM_152490.5(B3GALNT2):c.103G>A (p.Gly35Ser) rs1355670872
NM_152490.5(B3GALNT2):c.1048A>C (p.Asn350His)
NM_152490.5(B3GALNT2):c.1052T>G (p.Leu351Trp) rs772233739
NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val) rs1553342995
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.1177C>G (p.Arg393Gly)
NM_152490.5(B3GALNT2):c.1187A>G (p.Lys396Arg)
NM_152490.5(B3GALNT2):c.1207C>T (p.Pro403Ser) rs1683062458
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.1244G>A (p.Gly415Glu)
NM_152490.5(B3GALNT2):c.1255T>A (p.Ser419Thr) rs1281464527
NM_152490.5(B3GALNT2):c.1279G>T (p.Ala427Ser) rs773466522
NM_152490.5(B3GALNT2):c.1289C>T (p.Ser430Leu)
NM_152490.5(B3GALNT2):c.1304C>A (p.Thr435Asn) rs1683057478
NM_152490.5(B3GALNT2):c.1307A>G (p.Tyr436Cys)
NM_152490.5(B3GALNT2):c.1312-16T>C
NM_152490.5(B3GALNT2):c.1318G>A (p.Asp440Asn) rs1683005563
NM_152490.5(B3GALNT2):c.1366C>A (p.Gln456Lys)
NM_152490.5(B3GALNT2):c.1368+3A>G rs1558407116
NM_152490.5(B3GALNT2):c.155A>T (p.Asp52Val) rs777105173
NM_152490.5(B3GALNT2):c.16G>A (p.Val6Met) rs2102880612
NM_152490.5(B3GALNT2):c.178G>C (p.Ala60Pro)
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.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.218C>G (p.Thr73Ser) rs372008334
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.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.266T>C (p.Leu89Pro)
NM_152490.5(B3GALNT2):c.268G>T (p.Val90Leu) rs371613038
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.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.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.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.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.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.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.538T>C (p.Tyr180His) rs772253366
NM_152490.5(B3GALNT2):c.555+6C>T
NM_152490.5(B3GALNT2):c.575G>T (p.Arg192Leu)
NM_152490.5(B3GALNT2):c.608A>G (p.Asn203Ser) rs1684487405
NM_152490.5(B3GALNT2):c.620A>G (p.Tyr207Cys)
NM_152490.5(B3GALNT2):c.629T>G (p.Val210Gly) rs754911016
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.652-4A>G rs1683974448
NM_152490.5(B3GALNT2):c.658G>A (p.Glu220Lys) rs766801682
NM_152490.5(B3GALNT2):c.670G>A (p.Val224Met)
NM_152490.5(B3GALNT2):c.691C>T (p.His231Tyr) rs945312438
NM_152490.5(B3GALNT2):c.701T>C (p.Val234Ala)
NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu) rs755405777
NM_152490.5(B3GALNT2):c.730A>G (p.Asn244Asp)
NM_152490.5(B3GALNT2):c.734A>G (p.Asp245Gly) rs1683966257
NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro) rs1685725563
NM_152490.5(B3GALNT2):c.748C>A (p.Leu250Ile) rs1683965217
NM_152490.5(B3GALNT2):c.752G>C (p.Arg251Thr)
NM_152490.5(B3GALNT2):c.763-6T>C
NM_152490.5(B3GALNT2):c.785A>C (p.His262Pro)
NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val) rs1558417340
NM_152490.5(B3GALNT2):c.835A>C (p.Ile279Leu) rs1683655820
NM_152490.5(B3GALNT2):c.839A>T (p.Gln280Leu)
NM_152490.5(B3GALNT2):c.842-3T>C rs1247622470
NM_152490.5(B3GALNT2):c.842-3T>G rs1247622470
NM_152490.5(B3GALNT2):c.85G>T (p.Ala29Ser)
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.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.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.94_96del (p.Ser32del) rs1169838120
NM_152490.5(B3GALNT2):c.952GAT[1] (p.Asp319del)
NM_152490.5(B3GALNT2):c.974T>C (p.Val325Ala)

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