ClinVar Miner

List of variants in gene GALNS reported as uncertain significance for mucopolysaccharidosis type 4A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 357
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000512.5(GALNS):c.121-210C>T rs75552025 0.00974
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_000512.5(GALNS):c.759-67G>A rs565875595 0.00305
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000512.5(GALNS):c.*523G>A rs181174683 0.00076
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014 0.00068
NM_000512.5(GALNS):c.1242+3A>G rs377067312 0.00058
NM_000512.5(GALNS):c.*197C>T rs187469283 0.00051
NM_000512.5(GALNS):c.*573A>G rs551511278 0.00047
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898 0.00034
NM_000512.5(GALNS):c.*140C>A rs557356503 0.00031
NM_000512.5(GALNS):c.121-4G>A rs200008960 0.00030
NM_000512.5(GALNS):c.*29A>C rs377151771 0.00027
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000512.5(GALNS):c.*656T>C rs763539126 0.00019
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn) rs202031547 0.00018
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000512.5(GALNS):c.*287T>C rs776880179 0.00014
NM_000512.5(GALNS):c.857C>T (p.Thr286Met) rs137927658 0.00009
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975 0.00006
NM_000512.5(GALNS):c.1269C>T (p.Asn423=) rs148709901 0.00006
NM_000512.5(GALNS):c.1364+6T>A rs377120480 0.00006
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658 0.00006
NM_000512.5(GALNS):c.887C>T (p.Ala296Val) rs200371805 0.00006
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622 0.00006
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile) rs768180795 0.00005
NM_000512.5(GALNS):c.*145C>T rs539285988 0.00004
NM_000512.5(GALNS):c.*95T>A rs536448022 0.00004
NM_000512.5(GALNS):c.715G>A (p.Val239Ile) rs145131011 0.00004
NM_000512.5(GALNS):c.832G>A (p.Ala278Thr) rs377591464 0.00004
NM_000512.5(GALNS):c.*610G>T rs755706847 0.00003
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu) rs769748679 0.00003
NM_000512.5(GALNS):c.1198G>A (p.Ala400Thr) rs2303270 0.00003
NM_000512.5(GALNS):c.1238G>A (p.Arg413Lys) rs374798170 0.00003
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys) rs886039377 0.00003
NM_000512.5(GALNS):c.640C>G (p.Leu214Val) rs1424752390 0.00003
NM_000512.5(GALNS):c.709G>A (p.Ala237Thr) rs550139020 0.00003
NM_000512.5(GALNS):c.772G>A (p.Val258Ile) rs779257235 0.00003
NM_000512.5(GALNS):c.*263T>C rs886052451 0.00002
NM_000512.5(GALNS):c.1052C>T (p.Ala351Val) rs761386453 0.00002
NM_000512.5(GALNS):c.1059G>A (p.Ala353=) rs768334388 0.00002
NM_000512.5(GALNS):c.1087A>G (p.Ile363Val) rs758802414 0.00002
NM_000512.5(GALNS):c.1100A>G (p.Asn367Ser) rs150111302 0.00002
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.1157G>A (p.Arg386His) rs1221167717 0.00002
NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu) rs542835085 0.00002
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val) rs201153945 0.00002
NM_000512.5(GALNS):c.245-11C>T rs552476248 0.00002
NM_000512.5(GALNS):c.256C>T (p.Leu86=) rs190707335 0.00002
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr) rs372585484 0.00002
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp) rs146963745 0.00002
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys) rs759590432 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000512.5(GALNS):c.*144T>C rs1157099470 0.00001
NM_000512.5(GALNS):c.*186C>G rs1032068378 0.00001
NM_000512.5(GALNS):c.*20C>G rs886052454 0.00001
NM_000512.5(GALNS):c.*503T>G rs573836350 0.00001
NM_000512.5(GALNS):c.*639T>G rs1186947306 0.00001
NM_000512.5(GALNS):c.*86C>T rs897826613 0.00001
NM_000512.5(GALNS):c.1003-10T>C rs753249472 0.00001
NM_000512.5(GALNS):c.1008C>T (p.Ser336=) rs886052456 0.00001
NM_000512.5(GALNS):c.1062C>T (p.Gly354=) rs1910972322 0.00001
NM_000512.5(GALNS):c.1067C>T (p.Thr356Met) rs1017572961 0.00001
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe) rs368784505 0.00001
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp) rs762690924 0.00001
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu) rs752339162 0.00001
NM_000512.5(GALNS):c.121-31T>C rs776895500 0.00001
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 0.00001
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr) rs1404888504 0.00001
NM_000512.5(GALNS):c.1492C>T (p.Pro498Ser) rs1454253268 0.00001
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser) rs1303492021 0.00001
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe) rs398123433 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 0.00001
NM_000512.5(GALNS):c.167C>A (p.Thr56Asn) rs1967037775 0.00001
NM_000512.5(GALNS):c.241C>T (p.Pro81Ser) rs765151762 0.00001
NM_000512.5(GALNS):c.244T>C (p.Ser82Pro) rs1338871013 0.00001
NM_000512.5(GALNS):c.251C>T (p.Ala84Val) rs141340188 0.00001
NM_000512.5(GALNS):c.278T>A (p.Ile93Asn) rs1966993165 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.394G>A (p.Gly132Ser) rs766859208 0.00001
NM_000512.5(GALNS):c.406A>C (p.Lys136Gln) rs750953060 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.567-3C>T rs549597016 0.00001
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly) rs1427663367 0.00001
NM_000512.5(GALNS):c.638C>T (p.Ala213Val) rs770239604 0.00001
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro) rs771810111 0.00001
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp) rs775300515 0.00001
NM_000512.5(GALNS):c.758G>A (p.Arg253Gln) rs769560969 0.00001
NM_000512.5(GALNS):c.759-3C>G rs776430057 0.00001
NM_000512.5(GALNS):c.763G>A (p.Gly255Arg) rs1336648211 0.00001
NM_000512.5(GALNS):c.764G>A (p.Gly255Glu) rs1912009292 0.00001
NM_000512.5(GALNS):c.769G>A (p.Ala257Thr) rs773283163 0.00001
NM_000512.5(GALNS):c.847G>A (p.Val283Ile) rs772097990 0.00001
NM_000512.5(GALNS):c.898+4A>G rs774518058 0.00001
NM_000512.5(GALNS):c.911G>T (p.Gly304Val) rs758439379 0.00001
NM_000512.5(GALNS):c.947G>A (p.Gly316Glu) rs1057518404 0.00001
NM_000512.5(GALNS):c.949G>A (p.Gly317Arg) rs556060696 0.00001
NM_000512.5(GALNS):c.952A>T (p.Met318Leu) rs537013895 0.00001
NM_000512.5(GALNS):c.988G>A (p.Val330Ile) rs767856715 0.00001
NM_000512.5(GALNS):c.993T>C (p.Thr331=) rs762154863 0.00001
NC_000016.9:g.(?_88908285)_(88908399_?)dup
NM_000512.4(GALNS):c.413T>C (p.Val138Ala) rs118204436
NM_000512.5(GALNS):c.*123G>C rs886052453
NM_000512.5(GALNS):c.*261T>G rs915733731
NM_000512.5(GALNS):c.*270T>C rs1909389591
NM_000512.5(GALNS):c.*387T>G rs1909377767
NM_000512.5(GALNS):c.*520C>A rs80125890
NM_000512.5(GALNS):c.*70T>C rs933630786
NM_000512.5(GALNS):c.1002+307G>C rs866140272
NM_000512.5(GALNS):c.1002+4A>T
NM_000512.5(GALNS):c.1003-3C>G rs760239741
NM_000512.5(GALNS):c.1016T>G (p.Leu339Arg) rs1244322663
NM_000512.5(GALNS):c.1027A>T (p.Met343Leu) rs1910977435
NM_000512.5(GALNS):c.1030G>A (p.Asp344Asn) rs2142995864
NM_000512.5(GALNS):c.1032C>G (p.Asp344Glu) rs1407467035
NM_000512.5(GALNS):c.1034T>C (p.Leu345Pro) rs2142995853
NM_000512.5(GALNS):c.1038C>A (p.Phe346Leu) rs766504053
NM_000512.5(GALNS):c.1042A>G (p.Thr348Ala) rs1597547797
NM_000512.5(GALNS):c.1043C>A (p.Thr348Asn) rs368305568
NM_000512.5(GALNS):c.1051G>T (p.Ala351Ser)
NM_000512.5(GALNS):c.1055T>C (p.Leu352Pro) rs2142995830
NM_000512.5(GALNS):c.1058C>A (p.Ala353Glu) rs774113183
NM_000512.5(GALNS):c.1058C>T (p.Ala353Val) rs774113183
NM_000512.5(GALNS):c.1082G>T (p.Arg361Met) rs2142995799
NM_000512.5(GALNS):c.1088T>C (p.Ile363Thr)
NM_000512.5(GALNS):c.1094G>T (p.Gly365Val) rs2142995782
NM_000512.5(GALNS):c.1097T>C (p.Leu366Pro) rs971227692
NM_000512.5(GALNS):c.1106T>C (p.Leu369Pro) rs2142995771
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly) rs770908172
NM_000512.5(GALNS):c.1139G>A (p.Arg380Lys)
NM_000512.5(GALNS):c.1139G>C (p.Arg380Thr) rs2142995734
NM_000512.5(GALNS):c.1140-15C>T rs1910644710
NM_000512.5(GALNS):c.1140-2A>G
NM_000512.5(GALNS):c.1140G>T (p.Arg380Ser) rs200763834
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg) rs2142993896
NM_000512.5(GALNS):c.1156C>A (p.Arg386Ser) rs118204437
NM_000512.5(GALNS):c.1159G>A (p.Gly387Ser) rs1910641750
NM_000512.5(GALNS):c.1160G>A (p.Gly387Asp)
NM_000512.5(GALNS):c.1166C>T (p.Thr389Met)
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro) rs2142993863
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del) rs1567519221
NM_000512.5(GALNS):c.1180A>C (p.Thr394Pro) rs2142993839
NM_000512.5(GALNS):c.1183C>G (p.Leu395Val) rs767701478
NM_000512.5(GALNS):c.1184T>C (p.Leu395Pro) rs1227964288
NM_000512.5(GALNS):c.1192C>G (p.His398Asp) rs1910635964
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg) rs1267791852
NM_000512.5(GALNS):c.1201C>T (p.His401Tyr) rs2142993806
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1]) rs1567519128
NM_000512.5(GALNS):c.1209_1210delinsTT (p.Trp403_Thr404delinsCysSer) rs2142993802
NM_000512.5(GALNS):c.121-157C>T
NM_000512.5(GALNS):c.121-202A>G rs550044789
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000512.5(GALNS):c.121-9T>G rs2143005573
NM_000512.5(GALNS):c.1210A>C (p.Thr404Pro) rs2142993800
NM_000512.5(GALNS):c.1221C>G (p.Asn407Lys) rs2142993785
NM_000512.5(GALNS):c.1226G>C (p.Trp409Ser) rs2142993782
NM_000512.5(GALNS):c.122T>A (p.Met41Lys) rs1555523411
NM_000512.5(GALNS):c.1243-10C>G rs886052455
NM_000512.5(GALNS):c.1244G>T (p.Gly415Val) rs2142992416
NM_000512.5(GALNS):c.1258C>T (p.Pro420Ser) rs1341980746
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.125G>A (p.Gly42Glu) rs2143005560
NM_000512.5(GALNS):c.1261G>A (p.Gly421Arg) rs2142992406
NM_000512.5(GALNS):c.1262G>A (p.Gly421Glu) rs2142992401
NM_000512.5(GALNS):c.1264C>A (p.Gln422Lys) rs1295162107
NM_000512.5(GALNS):c.1270G>A (p.Val424Ile)
NM_000512.5(GALNS):c.131G>T (p.Gly44Val) rs1237852382
NM_000512.5(GALNS):c.1334G>A (p.Gly445Glu) rs2142992321
NM_000512.5(GALNS):c.1345G>A (p.Gly449Arg) rs1910352262
NM_000512.5(GALNS):c.1349A>G (p.Glu450Gly) rs2142992313
NM_000512.5(GALNS):c.1349A>T (p.Glu450Val) rs2142992313
NM_000512.5(GALNS):c.134A>G (p.Asp45Gly) rs1967040455
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile) rs398123432
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu) rs398123432
NM_000512.5(GALNS):c.1361T>C (p.Leu454Pro) rs2142992298
NM_000512.5(GALNS):c.139G>C (p.Gly47Arg) rs199638097
NM_000512.5(GALNS):c.142G>A (p.Val48Met) rs1377186614
NM_000512.5(GALNS):c.143T>C (p.Val48Ala) rs191519947
NM_000512.5(GALNS):c.1488G>T (p.Trp496Cys) rs1355113466
NM_000512.5(GALNS):c.148G>A (p.Gly50Arg) rs2143005530
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.1498G>T (p.Gly500Cys) rs1303492021
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg) rs1567509070
NM_000512.5(GALNS):c.1523T>C (p.Leu508Pro) rs2142967000
NM_000512.5(GALNS):c.1531C>G (p.Pro511Ala)
NM_000512.5(GALNS):c.1531C>T (p.Pro511Ser)
NM_000512.5(GALNS):c.154_165del (p.Pro52_Glu55del) rs2143005515
NM_000512.5(GALNS):c.1555C>T (p.Leu519Phe) rs1597515354
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu) rs2143005523
NM_000512.5(GALNS):c.1560G>A (p.Trp520Ter) rs2142966686
NM_000512.5(GALNS):c.1567T>C (p.Ter523Gln) rs1348149236
NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp) rs2142966615
NM_000512.5(GALNS):c.158C>T (p.Ser53Phe) rs1421990673
NM_000512.5(GALNS):c.170C>T (p.Pro57Leu)
NM_000512.5(GALNS):c.173A>G (p.Asn58Ser)
NM_000512.5(GALNS):c.177G>A (p.Leu59=)
NM_000512.5(GALNS):c.190_191delinsAT (p.Ala64Ile) rs2143005495
NM_000512.5(GALNS):c.196G>C (p.Gly66Arg) rs1967035346
NM_000512.5(GALNS):c.205T>G (p.Phe69Val) rs118204445
NM_000512.5(GALNS):c.210_221del (p.Asn71_Ser74del) rs2143005478
NM_000512.5(GALNS):c.211A>G (p.Asn71Asp)
NM_000512.5(GALNS):c.213C>G (p.Asn71Lys)
NM_000512.5(GALNS):c.221C>T (p.Ser74Phe) rs2143005475
NM_000512.5(GALNS):c.224C>G (p.Ala75Gly) rs2143005473
NM_000512.5(GALNS):c.228C>G (p.Asn76Lys) rs147599478
NM_000512.5(GALNS):c.229C>T (p.Pro77Ser) rs201278722
NM_000512.5(GALNS):c.239C>G (p.Ser80Trp) rs1209154325
NM_000512.5(GALNS):c.245-11C>G rs552476248
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu) rs141340188
NM_000512.5(GALNS):c.253G>A (p.Ala85Thr) rs2143005122
NM_000512.5(GALNS):c.257T>C (p.Leu86Pro) rs2143005116
NM_000512.5(GALNS):c.260T>C (p.Leu87Pro) rs1418948853
NM_000512.5(GALNS):c.263C>T (p.Thr88Ile) rs2143005111
NM_000512.5(GALNS):c.268C>G (p.Arg90Gly) rs1028668536
NM_000512.5(GALNS):c.272T>C (p.Leu91Pro) rs2143005099
NM_000512.5(GALNS):c.274C>T (p.Pro92Ser) rs2143005097
NM_000512.5(GALNS):c.278T>C (p.Ile93Thr) rs1966993165
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys) rs2143005086
NM_000512.5(GALNS):c.287G>T (p.Gly96Val) rs1966992597
NM_000512.5(GALNS):c.289T>G (p.Phe97Val) rs2143005083
NM_000512.5(GALNS):c.296C>T (p.Thr99Ile) rs2143005081
NM_000512.5(GALNS):c.298A>C (p.Thr100Pro) rs1597581827
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly) rs2143005072
NM_000512.5(GALNS):c.317A>G (p.Asn106Ser) rs2143005070
NM_000512.5(GALNS):c.319G>C (p.Ala107Pro) rs763184657
NM_000512.5(GALNS):c.319G>T (p.Ala107Ser) rs763184657
NM_000512.5(GALNS):c.323A>G (p.Tyr108Cys) rs1256041500
NM_000512.5(GALNS):c.326C>T (p.Thr109Ile) rs2143004681
NM_000512.5(GALNS):c.332A>G (p.Gln111Arg) rs2143004671
NM_000512.5(GALNS):c.363G>C (p.Glu121Asp) rs780986116
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln) rs746949976
NM_000512.5(GALNS):c.376G>C (p.Glu126Gln) rs1177468816
NM_000512.5(GALNS):c.385AAG[1] (p.Lys130del)
NM_000512.5(GALNS):c.398A>C (p.Tyr133Ser) rs1379268067
NM_000512.5(GALNS):c.405C>G (p.Ser135Arg) rs2143004605
NM_000512.5(GALNS):c.416G>A (p.Gly139Asp) rs2143004596
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.422+2dup rs2143004586
NM_000512.5(GALNS):c.423-16G>A
NM_000512.5(GALNS):c.423G>T (p.Trp141Cys) rs2143002473
NM_000512.5(GALNS):c.424C>A (p.His142Asn) rs2143002472
NM_000512.5(GALNS):c.425A>G (p.His142Arg) rs1288895691
NM_000512.5(GALNS):c.426T>A (p.His142Gln) rs754616917
NM_000512.5(GALNS):c.446T>G (p.Phe149Cys) rs2143002458
NM_000512.5(GALNS):c.448C>T (p.His150Tyr) rs1168278189
NM_000512.5(GALNS):c.451C>T (p.Pro151Ser) rs781439830
NM_000512.5(GALNS):c.452C>G (p.Pro151Arg) rs559063128
NM_000512.5(GALNS):c.460C>A (p.His154Asn)
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu) rs2143002437
NM_000512.5(GALNS):c.467T>C (p.Phe156Ser) rs1301146300
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.477G>T (p.Trp159Cys) rs398123439
NM_000512.5(GALNS):c.482G>A (p.Gly161Glu) rs2143002420
NM_000512.5(GALNS):c.488C>A (p.Pro163His) rs2143002411
NM_000512.5(GALNS):c.488C>T (p.Pro163Leu)
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser) rs761725425
NM_000512.5(GALNS):c.497A>G (p.His166Arg) rs2143002394
NM_000512.5(GALNS):c.498C>G (p.His166Gln) rs1301198698
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.502_503delinsTT (p.Gly168Leu) rs2143002376
NM_000512.5(GALNS):c.503G>T (p.Gly168Val) rs2143002375
NM_000512.5(GALNS):c.508T>C (p.Tyr170His) rs2143002372
NM_000512.5(GALNS):c.512A>C (p.Asp171Ala) rs2143002367
NM_000512.5(GALNS):c.513CAA[1] (p.Asn172del)
NM_000512.5(GALNS):c.529A>C (p.Asn177His) rs2143002349
NM_000512.5(GALNS):c.530A>G (p.Asn177Ser) rs2143002347
NM_000512.5(GALNS):c.535C>T (p.Pro179Ser) rs2143002341
NM_000512.5(GALNS):c.536C>A (p.Pro179His) rs1912278519
NM_000512.5(GALNS):c.536C>T (p.Pro179Leu) rs1912278519
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr) rs2143002331
NM_000512.5(GALNS):c.554A>G (p.Glu185Gly) rs2143002324
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
NM_000512.5(GALNS):c.563G>A (p.Gly188Asp) rs2143002315
NM_000512.5(GALNS):c.566+6G>A rs1912274502
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp) rs2143001744
NM_000512.5(GALNS):c.572A>G (p.Tyr191Cys) rs2143001742
NM_000512.5(GALNS):c.587T>A (p.Ile196Asn) rs759502513
NM_000512.5(GALNS):c.608C>T (p.Ala203Val) rs2143001722
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.634-5C>G rs1354095513
NM_000512.5(GALNS):c.676T>C (p.Phe226Leu) rs1375452799
NM_000512.5(GALNS):c.686A>C (p.Tyr229Ser) rs554190546
NM_000512.5(GALNS):c.688T>G (p.Trp230Gly) rs2143001411
NM_000512.5(GALNS):c.690G>T (p.Trp230Cys) rs2143001410
NM_000512.5(GALNS):c.692C>T (p.Ala231Val)
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr) rs368603508
NM_000512.5(GALNS):c.704C>T (p.Thr235Met)
NM_000512.5(GALNS):c.706C>G (p.His236Asp) rs1228027865
NM_000512.5(GALNS):c.707A>G (p.His236Arg) rs398123441
NM_000512.5(GALNS):c.707_708inv (p.His236Arg)
NM_000512.5(GALNS):c.715G>T (p.Val239Phe) rs145131011
NM_000512.5(GALNS):c.722C>A (p.Ala241Asp) rs2143001386
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys) rs2143001380
NM_000512.5(GALNS):c.754G>A (p.Gly252Arg)
NM_000512.5(GALNS):c.758+3G>A
NM_000512.5(GALNS):c.758+4A>T rs2143001351
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys) rs2143001210
NM_000512.5(GALNS):c.775C>G (p.Arg259Gly) rs61742258
NM_000512.5(GALNS):c.778G>A (p.Glu260Lys) rs2143001194
NM_000512.5(GALNS):c.779A>T (p.Glu260Val)
NM_000512.5(GALNS):c.780G>C (p.Glu260Asp) rs2143001191
NM_000512.5(GALNS):c.791G>C (p.Ser264Thr) rs2143001182
NM_000512.5(GALNS):c.812T>C (p.Leu271Pro) rs1912001607
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro) rs2143001162
NM_000512.5(GALNS):c.828C>G (p.His276Gln) rs759216815
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del) rs1389218771
NM_000512.5(GALNS):c.848T>C (p.Val283Ala)
NM_000512.5(GALNS):c.863A>G (p.Asp288Gly) rs2143001134
NM_000512.5(GALNS):c.865A>C (p.Asn289His) rs1314520034
NM_000512.5(GALNS):c.865A>G (p.Asn289Asp) rs1314520034
NM_000512.5(GALNS):c.868G>C (p.Gly290Arg) rs975409254
NM_000512.5(GALNS):c.869G>A (p.Gly290Asp) rs1214775986
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser) rs118204448
NM_000512.5(GALNS):c.872C>A (p.Ala291Asp) rs2143001123
NM_000512.5(GALNS):c.886G>A (p.Ala296Thr)
NM_000512.5(GALNS):c.899-167A>G rs2142999330
NM_000512.5(GALNS):c.899G>T (p.Gly300Val) rs780778562
NM_000512.5(GALNS):c.909C>G (p.Asn303Lys) rs751446283
NM_000512.5(GALNS):c.911G>A (p.Gly304Asp) rs758439379
NM_000512.5(GALNS):c.916T>G (p.Phe306Val) rs2142999207
NM_000512.5(GALNS):c.917T>C (p.Phe306Ser) rs759590432
NM_000512.5(GALNS):c.919C>A (p.Leu307Met) rs2142999203
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro) rs2142999202
NM_000512.5(GALNS):c.922T>C (p.Cys308Arg) rs2142999197
NM_000512.5(GALNS):c.924T>G (p.Cys308Trp) rs1567526988
NM_000512.5(GALNS):c.925G>A (p.Gly309Arg) rs2142999191
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn) rs377285422
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser) rs2142999186
NM_000512.5(GALNS):c.937A>G (p.Thr313Ala) rs2142999184
NM_000512.5(GALNS):c.940T>G (p.Phe314Val) rs774781295
NM_000512.5(GALNS):c.943G>A (p.Glu315Lys) rs2142999177
NM_000512.5(GALNS):c.943G>C (p.Glu315Gln) rs2142999177
NM_000512.5(GALNS):c.947G>T (p.Gly316Val) rs1057518404
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg) rs556060696
NM_000512.5(GALNS):c.950G>A (p.Gly317Glu) rs2142999169
NM_000512.5(GALNS):c.956G>C (p.Arg319Thr) rs377744312
NM_000512.5(GALNS):c.958G>A (p.Glu320Lys) rs2142999156
NM_000512.5(GALNS):c.960G>T (p.Glu320Asp) rs1213435795
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro) rs1597559500
NM_000512.5(GALNS):c.970G>T (p.Ala324Ser) rs569725890
NM_000512.5(GALNS):c.971C>A (p.Ala324Glu) rs2142999148
NM_000512.5(GALNS):c.973TGG[1] (p.Trp326del) rs2142999135
NM_000512.5(GALNS):c.975G>T (p.Trp325Cys) rs1269110043
NM_000512.5(GALNS):c.976T>C (p.Trp326Arg)
NM_000512.5(GALNS):c.977G>C (p.Trp326Ser) rs2142999137
NM_000512.5(GALNS):c.985C>A (p.His329Asn) rs766548318
NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)dup
Single allele

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