ClinVar Miner

List of variants in gene GALNT12 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 396
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HGVS dbSNP gnomAD frequency
NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn) rs145236923 0.00129
NM_024642.5(GALNT12):c.889C>T (p.Arg297Trp) rs149726976 0.00046
NM_024642.5(GALNT12):c.566A>G (p.Asn189Ser) rs183981750 0.00039
NM_024642.5(GALNT12):c.3G>A (p.Met1Ile) rs267606839 0.00033
NM_024642.5(GALNT12):c.1339G>A (p.Gly447Arg) rs376441206 0.00029
NM_024642.5(GALNT12):c.776T>C (p.Val259Ala) rs147356342 0.00026
NM_024642.5(GALNT12):c.825G>T (p.Gln275His) rs944134910 0.00023
NM_024642.5(GALNT12):c.303C>G (p.His101Gln) rs201926457 0.00021
NM_024642.5(GALNT12):c.212C>T (p.Pro71Leu) rs781089454 0.00019
NM_024642.5(GALNT12):c.5G>T (p.Trp2Leu) rs898798901 0.00014
NM_024642.5(GALNT12):c.868G>T (p.Val290Phe) rs371949942 0.00014
NM_024642.5(GALNT12):c.1583A>G (p.Asn528Ser) rs142096902 0.00011
NM_024642.5(GALNT12):c.890G>A (p.Arg297Gln) rs751386354 0.00010
NM_024642.5(GALNT12):c.895C>T (p.Gln299Ter) rs145557511 0.00009
NM_024642.5(GALNT12):c.164C>T (p.Thr55Ile) rs927193317 0.00008
NM_024642.5(GALNT12):c.715G>C (p.Glu239Gln) rs777144221 0.00008
NM_024642.5(GALNT12):c.608A>G (p.Asn203Ser) rs375844934 0.00007
NM_024642.5(GALNT12):c.631G>A (p.Ala211Thr) rs377671466 0.00007
NM_024642.5(GALNT12):c.214G>T (p.Ala72Ser) rs1439506011 0.00006
NM_024642.5(GALNT12):c.1208G>A (p.Arg403His) rs776700061 0.00005
NM_024642.5(GALNT12):c.427G>A (p.Ala143Thr) rs765088669 0.00005
NM_024642.5(GALNT12):c.1118G>A (p.Arg373His) rs920049418 0.00004
NM_024642.5(GALNT12):c.149C>A (p.Pro50Gln) rs1431572320 0.00004
NM_024642.5(GALNT12):c.226G>A (p.Gly76Ser) rs1036085286 0.00004
NM_024642.5(GALNT12):c.460C>T (p.Arg154Trp) rs146834885 0.00004
NM_024642.5(GALNT12):c.691T>C (p.Cys231Arg) rs751874783 0.00004
NM_024642.5(GALNT12):c.704A>G (p.Glu235Gly) rs767946700 0.00004
NM_024642.5(GALNT12):c.796G>A (p.Glu266Lys) rs759750251 0.00004
NM_024642.5(GALNT12):c.901C>T (p.Pro301Ser) rs973765987 0.00004
NM_024642.5(GALNT12):c.925A>G (p.Thr309Ala) rs773891669 0.00004
NM_024642.5(GALNT12):c.1213-3C>T rs776520276 0.00003
NM_024642.5(GALNT12):c.1216C>A (p.Pro406Thr) rs769837927 0.00003
NM_024642.5(GALNT12):c.1465G>A (p.Glu489Lys) rs137917376 0.00003
NM_024642.5(GALNT12):c.1489C>T (p.Arg497Cys) rs775453262 0.00003
NM_024642.5(GALNT12):c.1490G>T (p.Arg497Leu) rs200112438 0.00003
NM_024642.5(GALNT12):c.1672A>G (p.Ser558Gly) rs759843363 0.00003
NM_024642.5(GALNT12):c.1703A>G (p.Asn568Ser) rs749874941 0.00003
NM_024642.5(GALNT12):c.266A>G (p.Glu89Gly) rs1835414006 0.00003
NM_024642.5(GALNT12):c.325G>T (p.Asp109Tyr) rs773910987 0.00003
NM_024642.5(GALNT12):c.472A>G (p.Ser158Gly) rs140383365 0.00003
NM_024642.5(GALNT12):c.635G>A (p.Arg212Gln) rs777425926 0.00003
NM_024642.5(GALNT12):c.829G>A (p.Gly277Ser) rs200420144 0.00003
NM_024642.5(GALNT12):c.850G>A (p.Val284Met) rs772292450 0.00003
NM_024642.5(GALNT12):c.1048G>C (p.Gly350Arg) rs1040733256 0.00002
NM_024642.5(GALNT12):c.1108C>T (p.Pro370Ser) rs191693197 0.00002
NM_024642.5(GALNT12):c.1145G>A (p.Arg382His) rs868590153 0.00002
NM_024642.5(GALNT12):c.11G>A (p.Arg4His) rs1186134407 0.00002
NM_024642.5(GALNT12):c.1207C>T (p.Arg403Cys) rs201499778 0.00002
NM_024642.5(GALNT12):c.1277A>G (p.Lys426Arg) rs753534837 0.00002
NM_024642.5(GALNT12):c.1310A>G (p.His437Arg) rs139208509 0.00002
NM_024642.5(GALNT12):c.1406T>C (p.Ile469Thr) rs753849573 0.00002
NM_024642.5(GALNT12):c.1446G>A (p.Met482Ile) rs1060502970 0.00002
NM_024642.5(GALNT12):c.1554G>A (p.Met518Ile) rs774123474 0.00002
NM_024642.5(GALNT12):c.1637A>G (p.Lys546Arg) rs374166991 0.00002
NM_024642.5(GALNT12):c.1706C>T (p.Ser569Leu) rs199958039 0.00002
NM_024642.5(GALNT12):c.317A>G (p.Tyr106Cys) rs777089837 0.00002
NM_024642.5(GALNT12):c.32C>T (p.Pro11Leu) rs1009053405 0.00002
NM_024642.5(GALNT12):c.404T>C (p.Leu135Ser) rs370705797 0.00002
NM_024642.5(GALNT12):c.442G>T (p.Ala148Ser) rs751656135 0.00002
NM_024642.5(GALNT12):c.749C>T (p.Ser250Leu) rs756936867 0.00002
NM_024642.5(GALNT12):c.883A>G (p.Arg295Gly) rs1234947730 0.00002
NM_024642.5(GALNT12):c.918-2A>C rs778081163 0.00002
NM_024642.5(GALNT12):c.1005G>A (p.Trp335Ter) rs751621695 0.00001
NM_024642.5(GALNT12):c.1021G>A (p.Glu341Lys) rs1447125430 0.00001
NM_024642.5(GALNT12):c.1028C>T (p.Ser343Phe) rs749861818 0.00001
NM_024642.5(GALNT12):c.1031T>G (p.Phe344Cys) rs1427277664 0.00001
NM_024642.5(GALNT12):c.1046G>A (p.Cys349Tyr) rs747921962 0.00001
NM_024642.5(GALNT12):c.1073G>A (p.Cys358Tyr) rs143652350 0.00001
NM_024642.5(GALNT12):c.1087C>T (p.His363Tyr) rs369793331 0.00001
NM_024642.5(GALNT12):c.1117C>T (p.Arg373Cys) rs371373776 0.00001
NM_024642.5(GALNT12):c.1144C>T (p.Arg382Cys) rs912533623 0.00001
NM_024642.5(GALNT12):c.1185C>G (p.Tyr395Ter) rs1588453974 0.00001
NM_024642.5(GALNT12):c.1187A>G (p.Tyr396Cys) rs1272530441 0.00001
NM_024642.5(GALNT12):c.1192C>T (p.Arg398Cys) rs747755624 0.00001
NM_024642.5(GALNT12):c.1193G>A (p.Arg398His) rs769674764 0.00001
NM_024642.5(GALNT12):c.1201C>T (p.Arg401Cys) rs1060502968 0.00001
NM_024642.5(GALNT12):c.1202G>A (p.Arg401His) rs1204571302 0.00001
NM_024642.5(GALNT12):c.1213-10G>T rs768905490 0.00001
NM_024642.5(GALNT12):c.1231A>G (p.Thr411Ala) rs1052099605 0.00001
NM_024642.5(GALNT12):c.1249C>T (p.Arg417Trp) rs766728145 0.00001
NM_024642.5(GALNT12):c.1300C>A (p.Pro434Thr) rs745821987 0.00001
NM_024642.5(GALNT12):c.1344+4A>C rs763627322 0.00001
NM_024642.5(GALNT12):c.1366G>A (p.Asp456Asn) rs763533761 0.00001
NM_024642.5(GALNT12):c.1368C>A (p.Asp456Glu) rs1163186722 0.00001
NM_024642.5(GALNT12):c.1372T>A (p.Cys458Ser) rs370060387 0.00001
NM_024642.5(GALNT12):c.1382A>G (p.Tyr461Cys) rs764920800 0.00001
NM_024642.5(GALNT12):c.1386C>A (p.Asn462Lys) rs143336366 0.00001
NM_024642.5(GALNT12):c.1393G>A (p.Asp465Asn) rs777862536 0.00001
NM_024642.5(GALNT12):c.139G>A (p.Ala47Thr) rs1376691635 0.00001
NM_024642.5(GALNT12):c.1418A>G (p.Gln473Arg) rs757485456 0.00001
NM_024642.5(GALNT12):c.1458+7A>G rs747500793 0.00001
NM_024642.5(GALNT12):c.1490G>A (p.Arg497His) rs200112438 0.00001
NM_024642.5(GALNT12):c.1493A>G (p.Tyr498Cys) rs955510774 0.00001
NM_024642.5(GALNT12):c.1522G>A (p.Ala508Thr) rs1487635356 0.00001
NM_024642.5(GALNT12):c.1525G>A (p.Val509Met) rs999070067 0.00001
NM_024642.5(GALNT12):c.1546C>A (p.Leu516Ile) rs748778853 0.00001
NM_024642.5(GALNT12):c.155C>T (p.Pro52Leu) rs1588436185 0.00001
NM_024642.5(GALNT12):c.1581G>A (p.Glu527=) rs1423291369 0.00001
NM_024642.5(GALNT12):c.1605G>T (p.Glu535Asp) rs1443842231 0.00001
NM_024642.5(GALNT12):c.1607A>T (p.Asp536Val) rs749758074 0.00001
NM_024642.5(GALNT12):c.1610G>T (p.Gly537Val) rs756834523 0.00001
NM_024642.5(GALNT12):c.1640G>C (p.Cys547Ser) rs368008649 0.00001
NM_024642.5(GALNT12):c.1655G>A (p.Arg552Lys) rs1285871027 0.00001
NM_024642.5(GALNT12):c.1676T>G (p.Phe559Cys) rs985361459 0.00001
NM_024642.5(GALNT12):c.1678G>A (p.Val560Ile) rs752958995 0.00001
NM_024642.5(GALNT12):c.1685T>G (p.Leu562Arg) rs764337232 0.00001
NM_024642.5(GALNT12):c.1736G>A (p.Arg579His) rs367620732 0.00001
NM_024642.5(GALNT12):c.178C>G (p.Arg60Gly) rs992673909 0.00001
NM_024642.5(GALNT12):c.188C>A (p.Pro63Gln) rs1481280788 0.00001
NM_024642.5(GALNT12):c.193A>G (p.Met65Val) rs1179298414 0.00001
NM_024642.5(GALNT12):c.199C>T (p.Arg67Trp) rs1437425266 0.00001
NM_024642.5(GALNT12):c.224T>G (p.Leu75Arg) rs1835413080 0.00001
NM_024642.5(GALNT12):c.22C>T (p.Arg8Trp) rs1419382391 0.00001
NM_024642.5(GALNT12):c.268G>A (p.Glu90Lys) rs1482512366 0.00001
NM_024642.5(GALNT12):c.281A>G (p.Gln94Arg) rs868573205 0.00001
NM_024642.5(GALNT12):c.389A>T (p.Tyr130Phe) rs1183648101 0.00001
NM_024642.5(GALNT12):c.491C>T (p.Pro164Leu) rs775040546 0.00001
NM_024642.5(GALNT12):c.521T>C (p.Val174Ala) rs138795909 0.00001
NM_024642.5(GALNT12):c.528C>G (p.Asp176Glu) rs780049629 0.00001
NM_024642.5(GALNT12):c.535G>A (p.Asp179Asn) rs762919200 0.00001
NM_024642.5(GALNT12):c.545A>G (p.His182Arg) rs1196473648 0.00001
NM_024642.5(GALNT12):c.550A>C (p.Lys184Gln) rs1835864602 0.00001
NM_024642.5(GALNT12):c.593G>A (p.Arg198His) rs1247073303 0.00001
NM_024642.5(GALNT12):c.609C>A (p.Asn203Lys) rs370024536 0.00001
NM_024642.5(GALNT12):c.627_637del (p.Arg210fs) rs781391307 0.00001
NM_024642.5(GALNT12):c.634C>T (p.Arg212Trp) rs371040665 0.00001
NM_024642.5(GALNT12):c.674C>A (p.Thr225Asn) rs867921388 0.00001
NM_024642.5(GALNT12):c.685T>A (p.Cys229Ser) rs1289967555 0.00001
NM_024642.5(GALNT12):c.703G>A (p.Glu235Lys) rs1256927785 0.00001
NM_024642.5(GALNT12):c.731+4C>T rs756809019 0.00001
NM_024642.5(GALNT12):c.758T>C (p.Val253Ala) rs1316883841 0.00001
NM_024642.5(GALNT12):c.764C>T (p.Pro255Leu) rs758330743 0.00001
NM_024642.5(GALNT12):c.802C>G (p.Leu268Val) rs772466597 0.00001
NM_024642.5(GALNT12):c.809A>G (p.Asn270Ser) rs1416100156 0.00001
NM_024642.5(GALNT12):c.820C>T (p.Pro274Ser) rs540061502 0.00001
NM_024642.5(GALNT12):c.832G>A (p.Gly278Ser) rs751274362 0.00001
NM_024642.5(GALNT12):c.845G>A (p.Arg282Lys) rs374578939 0.00001
NM_024642.5(GALNT12):c.857C>T (p.Thr286Met) rs548915885 0.00001
NM_024642.5(GALNT12):c.884G>A (p.Arg295Lys) rs762729583 0.00001
NM_024642.5(GALNT12):c.899C>T (p.Ser300Phe) rs777263033 0.00001
NM_024642.5(GALNT12):c.923C>T (p.Pro308Leu) rs537015652 0.00001
NC_000009.11:g.(?_101569981)_(101611374_?)del
NC_000009.11:g.(?_101569981)_(101611374_?)dup
NC_000009.11:g.(?_101585528)_(101602425_?)dup
NC_000009.11:g.(?_101594048)_(101597654_?)del
NC_000009.11:g.(?_101597521)_(101608415_?)del
NC_000009.12:g.98831772del rs1836001667
NM_024642.5(GALNT12):c.1017C>A (p.Asn339Lys) rs756614355
NM_024642.5(GALNT12):c.1019T>G (p.Leu340Arg) rs1477940403
NM_024642.5(GALNT12):c.1035+1G>T rs1363014898
NM_024642.5(GALNT12):c.1035+2dup rs1588452568
NM_024642.5(GALNT12):c.1035+4_1035+7del rs2118439332
NM_024642.5(GALNT12):c.1036-1G>A
NM_024642.5(GALNT12):c.1036-1G>T
NM_024642.5(GALNT12):c.1036-3C>T
NM_024642.5(GALNT12):c.1037T>A (p.Ile346Asn) rs1836167752
NM_024642.5(GALNT12):c.1049G>A (p.Gly350Asp)
NM_024642.5(GALNT12):c.1054del (p.Val352fs) rs1836168341
NM_024642.5(GALNT12):c.1069C>A (p.Pro357Thr) rs1223719188
NM_024642.5(GALNT12):c.1072T>G (p.Cys358Gly)
NM_024642.5(GALNT12):c.1073G>T (p.Cys358Phe) rs143652350
NM_024642.5(GALNT12):c.1078del (p.His360fs)
NM_024642.5(GALNT12):c.1097C>T (p.Pro366Leu)
NM_024642.5(GALNT12):c.1115C>G (p.Ser372Cys) rs1836170300
NM_024642.5(GALNT12):c.1115C>T (p.Ser372Phe)
NM_024642.5(GALNT12):c.1118G>T (p.Arg373Leu) rs920049418
NM_024642.5(GALNT12):c.1126G>C (p.Ala376Pro)
NM_024642.5(GALNT12):c.1126G>T (p.Ala376Ser) rs765486750
NM_024642.5(GALNT12):c.1133C>T (p.Ala378Val) rs1836171083
NM_024642.5(GALNT12):c.1135A>T (p.Asn379Tyr) rs1836171338
NM_024642.5(GALNT12):c.1177G>C (p.Glu393Gln) rs754642218
NM_024642.5(GALNT12):c.119A>C (p.Gln40Pro)
NM_024642.5(GALNT12):c.120G>C (p.Gln40His)
NM_024642.5(GALNT12):c.1212+1G>T
NM_024642.5(GALNT12):c.1217C>T (p.Pro406Leu)
NM_024642.5(GALNT12):c.1241A>G (p.Lys414Arg) rs892227579
NM_024642.5(GALNT12):c.1250G>A (p.Arg417Gln)
NM_024642.5(GALNT12):c.1263G>T (p.Gln421His) rs2118469709
NM_024642.5(GALNT12):c.1265G>T (p.Cys422Phe) rs755796376
NM_024642.5(GALNT12):c.1281_1296del (p.Trp427fs) rs1472145598
NM_024642.5(GALNT12):c.1295T>C (p.Val432Ala) rs1836250046
NM_024642.5(GALNT12):c.1295_1296insA (p.Tyr433fs) rs1836250094
NM_024642.5(GALNT12):c.1297T>C (p.Tyr433His) rs1836250153
NM_024642.5(GALNT12):c.129CGGGGC[3] (p.42GA[4]) rs1194232383
NM_024642.5(GALNT12):c.1306C>G (p.Leu436Val) rs1297882734
NM_024642.5(GALNT12):c.1309C>T (p.His437Tyr)
NM_024642.5(GALNT12):c.130G>C (p.Gly44Arg) rs2118256103
NM_024642.5(GALNT12):c.1320G>A (p.Glu440=) rs2118470345
NM_024642.5(GALNT12):c.1327C>A (p.Pro443Thr) rs201667596
NM_024642.5(GALNT12):c.1331G>T (p.Gly444Val) rs2118470572
NM_024642.5(GALNT12):c.1338C>G (p.Phe446Leu) rs200788044
NM_024642.5(GALNT12):c.1345-79_1364delinsTCAA
NM_024642.5(GALNT12):c.1367A>C (p.Asp456Ala)
NM_024642.5(GALNT12):c.136G>C (p.Gly46Arg)
NM_024642.5(GALNT12):c.137G>A (p.Gly46Glu)
NM_024642.5(GALNT12):c.137_142dup (p.Ala47_Ala48insGlyAla)
NM_024642.5(GALNT12):c.138_139insTCCGGG (p.Gly46_Ala47insSerGly) rs1220204419
NM_024642.5(GALNT12):c.140C>A (p.Ala47Asp) rs1304764723
NM_024642.5(GALNT12):c.140_141insCGGCGC (p.42_43GA[4]) rs1238412781
NM_024642.5(GALNT12):c.1415_1416dup (p.Gln473fs) rs2118494161
NM_024642.5(GALNT12):c.1417C>T (p.Gln473Ter)
NM_024642.5(GALNT12):c.1418A>C (p.Gln473Pro)
NM_024642.5(GALNT12):c.1426C>G (p.Leu476Val)
NM_024642.5(GALNT12):c.1442G>A (p.Gly481Glu) rs2118494434
NM_024642.5(GALNT12):c.1447G>A (p.Gly483Ser)
NM_024642.5(GALNT12):c.1456C>T (p.Gln486Ter) rs2118494579
NM_024642.5(GALNT12):c.1459-10C>A
NM_024642.5(GALNT12):c.1459-15_1459-1dup rs760180024
NM_024642.5(GALNT12):c.1463T>G (p.Phe488Cys)
NM_024642.5(GALNT12):c.1465G>C (p.Glu489Gln)
NM_024642.5(GALNT12):c.1489C>G (p.Arg497Gly)
NM_024642.5(GALNT12):c.148C>A (p.Pro50Thr) rs1292953164
NM_024642.5(GALNT12):c.149C>T (p.Pro50Leu)
NM_024642.5(GALNT12):c.1508C>A (p.Pro503His) rs2118504858
NM_024642.5(GALNT12):c.1520T>C (p.Ile507Thr) rs1588459566
NM_024642.5(GALNT12):c.1523C>T (p.Ala508Val) rs2118504994
NM_024642.5(GALNT12):c.1531G>A (p.Ala511Thr)
NM_024642.5(GALNT12):c.1540G>A (p.Asp514Asn)
NM_024642.5(GALNT12):c.1541A>T (p.Asp514Val) rs1836406676
NM_024642.5(GALNT12):c.1544C>A (p.Thr515Asn) rs1836406734
NM_024642.5(GALNT12):c.1544C>T (p.Thr515Ile) rs1836406734
NM_024642.5(GALNT12):c.154C>A (p.Pro52Thr)
NM_024642.5(GALNT12):c.154C>T (p.Pro52Ser) rs980755584
NM_024642.5(GALNT12):c.1550T>C (p.Ile517Thr)
NM_024642.5(GALNT12):c.1551_1553del (p.Ile517del) rs1416446800
NM_024642.5(GALNT12):c.1552A>G (p.Met518Val)
NM_024642.5(GALNT12):c.1552A>T (p.Met518Leu)
NM_024642.5(GALNT12):c.1553T>G (p.Met518Arg)
NM_024642.5(GALNT12):c.1564G>A (p.Glu522Lys) rs200303625
NM_024642.5(GALNT12):c.1564G>T (p.Glu522Ter) rs200303625
NM_024642.5(GALNT12):c.1567G>A (p.Glu523Lys) rs1836407668
NM_024642.5(GALNT12):c.1568A>G (p.Glu523Gly) rs1169647634
NM_024642.5(GALNT12):c.1571C>G (p.Thr524Ser) rs1836407900
NM_024642.5(GALNT12):c.1571C>T (p.Thr524Ile) rs1836407900
NM_024642.5(GALNT12):c.1576C>G (p.Pro526Ala)
NM_024642.5(GALNT12):c.158C>T (p.Pro53Leu) rs1209537944
NM_024642.5(GALNT12):c.15G>A (p.Thr5=) rs1588436041
NM_024642.5(GALNT12):c.160C>T (p.Arg54Cys)
NM_024642.5(GALNT12):c.1616T>A (p.Leu539Ter) rs1836484153
NM_024642.5(GALNT12):c.1624G>A (p.Glu542Lys) rs376894835
NM_024642.5(GALNT12):c.1630T>A (p.Ser544Thr) rs1836484489
NM_024642.5(GALNT12):c.1631C>T (p.Ser544Phe)
NM_024642.5(GALNT12):c.163A>T (p.Thr55Ser) rs1007797317
NM_024642.5(GALNT12):c.163_171dup (p.Thr55_Arg57dup) rs1588436188
NM_024642.5(GALNT12):c.1641T>A (p.Cys547Ter) rs1060502967
NM_024642.5(GALNT12):c.164C>A (p.Thr55Asn)
NM_024642.5(GALNT12):c.1652C>T (p.Ala551Val)
NM_024642.5(GALNT12):c.1657A>G (p.Lys553Glu)
NM_024642.5(GALNT12):c.1657A>T (p.Lys553Ter) rs1331475779
NM_024642.5(GALNT12):c.1658A>G (p.Lys553Arg) rs2118522958
NM_024642.5(GALNT12):c.1663T>G (p.Ser555Ala) rs1836485664
NM_024642.5(GALNT12):c.1664C>T (p.Ser555Leu) rs761631783
NM_024642.5(GALNT12):c.166_174dup (p.Pro56_Pro58dup) rs1379414621
NM_024642.5(GALNT12):c.167C>T (p.Pro56Leu) rs1588436209
NM_024642.5(GALNT12):c.1682C>T (p.Pro561Leu)
NM_024642.5(GALNT12):c.1689A>C (p.Leu563Phe) rs1836487597
NM_024642.5(GALNT12):c.1690C>T (p.Arg564Ter) rs200145205
NM_024642.5(GALNT12):c.1693G>C (p.Asp565His) rs1304382362
NM_024642.5(GALNT12):c.171_184del (p.Pro58fs) rs1237409974
NM_024642.5(GALNT12):c.1734G>C (p.Glu578Asp) rs769553219
NM_024642.5(GALNT12):c.1735C>T (p.Arg579Cys)
NM_024642.5(GALNT12):c.1738A>G (p.Met580Val) rs1060502966
NM_024642.5(GALNT12):c.1739T>C (p.Met580Thr) rs1194642022
NM_024642.5(GALNT12):c.1744T>C (p.Ter582Arg) rs2118524217
NM_024642.5(GALNT12):c.175G>C (p.Gly59Arg) rs1835411866
NM_024642.5(GALNT12):c.178C>T (p.Arg60Trp) rs992673909
NM_024642.5(GALNT12):c.182G>A (p.Arg61His)
NM_024642.5(GALNT12):c.190G>A (p.Val64Ile) rs917032910
NM_024642.5(GALNT12):c.193A>T (p.Met65Leu) rs1179298414
NM_024642.5(GALNT12):c.19C>G (p.Arg7Gly) rs1835404781
NM_024642.5(GALNT12):c.1A>C (p.Met1Leu) rs1259048855
NM_024642.5(GALNT12):c.1A>G (p.Met1Val) rs1259048855
NM_024642.5(GALNT12):c.203C>A (p.Pro68Gln)
NM_024642.5(GALNT12):c.205C>G (p.Pro69Ala) rs1588436249
NM_024642.5(GALNT12):c.206C>T (p.Pro69Leu) rs1588436255
NM_024642.5(GALNT12):c.208G>T (p.Val70Leu) rs2118257028
NM_024642.5(GALNT12):c.226G>C (p.Gly76Arg) rs1036085286
NM_024642.5(GALNT12):c.230_238dup (p.Ala77_Gly79dup) rs1465375485
NM_024642.5(GALNT12):c.236G>A (p.Gly79Asp) rs1564243842
NM_024642.5(GALNT12):c.23G>C (p.Arg8Pro)
NM_024642.5(GALNT12):c.23_51dup (p.Arg18fs) rs1355510080
NM_024642.5(GALNT12):c.248G>T (p.Arg83Leu)
NM_024642.5(GALNT12):c.251T>C (p.Leu84Pro) rs1420976719
NM_024642.5(GALNT12):c.254A>G (p.Gln85Arg)
NM_024642.5(GALNT12):c.256_282dup (p.Leu86_Gln94dup) rs1588436292
NM_024642.5(GALNT12):c.25C>T (p.Arg9Cys)
NM_024642.5(GALNT12):c.263G>T (p.Gly88Val) rs1588436309
NM_024642.5(GALNT12):c.265G>A (p.Glu89Lys)
NM_024642.5(GALNT12):c.265G>T (p.Glu89Ter) rs1374853820
NM_024642.5(GALNT12):c.271C>G (p.Leu91Val)
NM_024642.5(GALNT12):c.283G>A (p.Glu95Lys) rs1346303585
NM_024642.5(GALNT12):c.283GAG[1] (p.Glu96del)
NM_024642.5(GALNT12):c.2T>C (p.Met1Thr) rs1005081558
NM_024642.5(GALNT12):c.2_13del (p.Met1_Arg4del) rs1835403535
NM_024642.5(GALNT12):c.301C>T (p.His101Tyr) rs758541440
NM_024642.5(GALNT12):c.312C>T (p.Asn104=)
NM_024642.5(GALNT12):c.314T>A (p.Ile105Asn) rs1332254128
NM_024642.5(GALNT12):c.329G>T (p.Arg110Leu) rs374994372
NM_024642.5(GALNT12):c.338T>C (p.Leu113Pro) rs1207767530
NM_024642.5(GALNT12):c.347G>T (p.Arg116Leu)
NM_024642.5(GALNT12):c.354C>A (p.Pro118=) rs538612614
NM_024642.5(GALNT12):c.363G>A (p.Trp121Ter) rs1391841803
NM_024642.5(GALNT12):c.371+3G>A rs1342911815
NM_024642.5(GALNT12):c.371dup (p.Cys125fs)
NM_024642.5(GALNT12):c.372-3C>T
NM_024642.5(GALNT12):c.398A>G (p.Asp133Gly) rs1835786603
NM_024642.5(GALNT12):c.3G>T (p.Met1Ile) rs267606839
NM_024642.5(GALNT12):c.404T>A (p.Leu135Ter)
NM_024642.5(GALNT12):c.410G>A (p.Arg137Lys) rs1554755060
NM_024642.5(GALNT12):c.416C>G (p.Ser139Cys)
NM_024642.5(GALNT12):c.424A>G (p.Ile142Val) rs1477259561
NM_024642.5(GALNT12):c.425T>C (p.Ile142Thr) rs757214097
NM_024642.5(GALNT12):c.446G>T (p.Trp149Leu)
NM_024642.5(GALNT12):c.451A>C (p.Thr151Pro)
NM_024642.5(GALNT12):c.454C>G (p.Leu152Val) rs2118355270
NM_024642.5(GALNT12):c.454C>T (p.Leu152Phe)
NM_024642.5(GALNT12):c.461G>A (p.Arg154Gln) rs756339026
NM_024642.5(GALNT12):c.466G>A (p.Val156Ile) rs1835788177
NM_024642.5(GALNT12):c.475G>A (p.Val159Ile)
NM_024642.5(GALNT12):c.485C>T (p.Thr162Ile)
NM_024642.5(GALNT12):c.488C>T (p.Ser163Phe) rs771521076
NM_024642.5(GALNT12):c.491C>A (p.Pro164Gln) rs775040546
NM_024642.5(GALNT12):c.499C>G (p.Leu167Val) rs2118355970
NM_024642.5(GALNT12):c.502C>G (p.Leu168Val) rs1835789469
NM_024642.5(GALNT12):c.506AAG[1] (p.Glu170del) rs747224942
NM_024642.5(GALNT12):c.510A>T (p.Glu170Asp)
NM_024642.5(GALNT12):c.527A>T (p.Asp176Val)
NM_024642.5(GALNT12):c.530A>C (p.Tyr177Ser) rs867136237
NM_024642.5(GALNT12):c.530A>G (p.Tyr177Cys) rs867136237
NM_024642.5(GALNT12):c.532A>G (p.Ser178Gly) rs1835790432
NM_024642.5(GALNT12):c.538A>G (p.Arg180Gly) rs1835790665
NM_024642.5(GALNT12):c.542-2A>G
NM_024642.5(GALNT12):c.544C>T (p.His182Tyr) rs1835864292
NM_024642.5(GALNT12):c.556C>T (p.Arg186Cys) rs750758049
NM_024642.5(GALNT12):c.563C>T (p.Ala188Val) rs2118376150
NM_024642.5(GALNT12):c.565A>C (p.Asn189His)
NM_024642.5(GALNT12):c.565A>G (p.Asn189Asp)
NM_024642.5(GALNT12):c.571C>G (p.Leu191Val)
NM_024642.5(GALNT12):c.578G>C (p.Gly193Ala) rs1835865743
NM_024642.5(GALNT12):c.580C>G (p.Leu194Val) rs1588446515
NM_024642.5(GALNT12):c.583C>T (p.Pro195Ser) rs2118376466
NM_024642.5(GALNT12):c.587A>G (p.Lys196Arg)
NM_024642.5(GALNT12):c.5G>A (p.Trp2Ter) rs898798901
NM_024642.5(GALNT12):c.5G>C (p.Trp2Ser) rs898798901
NM_024642.5(GALNT12):c.601C>G (p.Arg201Gly) rs372616005
NM_024642.5(GALNT12):c.601C>T (p.Arg201Cys)
NM_024642.5(GALNT12):c.604G>A (p.Ala202Thr) rs762155395
NM_024642.5(GALNT12):c.611A>G (p.Lys204Arg) rs1835868057
NM_024642.5(GALNT12):c.618G>T (p.Glu206Asp) rs752104405
NM_024642.5(GALNT12):c.629G>C (p.Arg210Pro) rs780705882
NM_024642.5(GALNT12):c.632C>T (p.Ala211Val) rs1308828909
NM_024642.5(GALNT12):c.646G>A (p.Ala216Thr) rs770798296
NM_024642.5(GALNT12):c.656C>T (p.Ala219Val)
NM_024642.5(GALNT12):c.665A>G (p.Asp222Gly)
NM_024642.5(GALNT12):c.670C>T (p.Leu224=)
NM_024642.5(GALNT12):c.680T>A (p.Leu227Gln) rs763057175
NM_024642.5(GALNT12):c.685T>C (p.Cys229Arg) rs1289967555
NM_024642.5(GALNT12):c.706G>C (p.Gly236Arg) rs2118378502
NM_024642.5(GALNT12):c.710G>A (p.Trp237Ter)
NM_024642.5(GALNT12):c.732-4_771dup rs745921546
NM_024642.5(GALNT12):c.732-5T>G
NM_024642.5(GALNT12):c.732G>A (p.Arg244=)
NM_024642.5(GALNT12):c.745G>A (p.Glu249Lys)
NM_024642.5(GALNT12):c.760T>C (p.Cys254Arg) rs750084638
NM_024642.5(GALNT12):c.776T>G (p.Val259Gly) rs147356342
NM_024642.5(GALNT12):c.780C>G (p.Ile260Met) rs777942439
NM_024642.5(GALNT12):c.781G>C (p.Asp261His) rs41306504
NM_024642.5(GALNT12):c.787A>G (p.Asn263Asp) rs2118414001
NM_024642.5(GALNT12):c.791C>G (p.Thr264Ser)
NM_024642.5(GALNT12):c.795C>A (p.Phe265Leu) rs774616588
NM_024642.5(GALNT12):c.797A>G (p.Glu266Gly) rs1454775771
NM_024642.5(GALNT12):c.821C>A (p.Pro274His)
NM_024642.5(GALNT12):c.835T>G (p.Phe279Val)
NM_024642.5(GALNT12):c.837C>A (p.Phe279Leu) rs754951224
NM_024642.5(GALNT12):c.838G>A (p.Asp280Asn) rs748104709
NM_024642.5(GALNT12):c.838G>T (p.Asp280Tyr) rs748104709
NM_024642.5(GALNT12):c.839A>G (p.Asp280Gly)
NM_024642.5(GALNT12):c.851T>C (p.Val284Ala) rs1588449987
NM_024642.5(GALNT12):c.866C>G (p.Thr289Arg) rs1588450015
NM_024642.5(GALNT12):c.886A>G (p.Ile296Val) rs1588450054
NM_024642.5(GALNT12):c.893T>C (p.Met298Thr)
NM_024642.5(GALNT12):c.897del (p.Gln299fs)
NM_024642.5(GALNT12):c.8G>A (p.Gly3Glu)
NM_024642.5(GALNT12):c.914T>C (p.Ile305Thr) rs1836010243
NM_024642.5(GALNT12):c.917+6G>A rs2118416565
NM_024642.5(GALNT12):c.919T>C (p.Ser307Pro) rs1313362587
NM_024642.5(GALNT12):c.928A>G (p.Met310Val)
NM_024642.5(GALNT12):c.938G>A (p.Gly313Glu)
NM_024642.5(GALNT12):c.953G>A (p.Ser318Asn) rs1836111273
NM_024642.5(GALNT12):c.967G>A (p.Glu323Lys) rs1836111722
NM_024642.5(GALNT12):c.969A>C (p.Glu323Asp)
NM_024642.5(GALNT12):c.980C>G (p.Ser327Cys) rs761786369
NM_024642.5(GALNT12):c.983A>G (p.Tyr328Cys) rs1017576138
NM_024642.5(GALNT12):c.985G>A (p.Asp329Asn) rs267602051
NM_024642.5(GALNT12):c.988A>G (p.Thr330Ala)
NM_024642.5(GALNT12):c.9dup (p.Arg4fs)

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