ClinVar Miner

List of variants in gene GALC reported as uncertain significance for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 315
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137 0.00248
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_000153.4(GALC):c.1489+3G>A rs186664912 0.00124
NM_000153.4(GALC):c.-327G>T rs185943390 0.00120
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869 0.00107
NM_000153.4(GALC):c.-67T>G rs571945132 0.00070
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000153.4(GALC):c.*1451C>A rs138919458 0.00054
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) rs73312829 0.00041
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480 0.00023
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180 0.00019
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000153.4(GALC):c.708C>T (p.Ser236=) rs773666802 0.00017
NM_000153.4(GALC):c.1629C>T (p.Ala543=) rs201055535 0.00015
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794 0.00013
NM_000153.4(GALC):c.328+6A>G rs201977747 0.00011
NM_000153.4(GALC):c.82G>A (p.Ala28Thr) rs776663863 0.00011
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser) rs200516260 0.00009
NM_000153.4(GALC):c.*405A>G rs143839879 0.00008
NM_000153.4(GALC):c.*1458T>C rs757918900 0.00006
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656 0.00006
NM_000153.4(GALC):c.1819G>T (p.Val607Phe) rs929215561 0.00006
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260 0.00006
NM_000153.4(GALC):c.206G>A (p.Arg69Gln) rs371523347 0.00006
NM_000153.4(GALC):c.53C>T (p.Thr18Ile) rs755139799 0.00006
NM_000153.4(GALC):c.-63C>G rs1055562642 0.00004
NM_000153.4(GALC):c.1619C>T (p.Thr540Ile) rs557464603 0.00004
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn) rs540808138 0.00004
NM_000153.4(GALC):c.1861C>T (p.Arg621Cys) rs755930402 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883 0.00004
NM_000153.4(GALC):c.28T>C (p.Trp10Arg) rs767913083 0.00004
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) rs768993170 0.00004
NM_000153.4(GALC):c.1702A>G (p.Ile568Val) rs371792183 0.00003
NM_000153.4(GALC):c.1946C>T (p.Ser649Phe) rs1158521193 0.00003
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu) rs779202612 0.00003
NM_000153.4(GALC):c.23C>T (p.Ala8Val) rs376511103 0.00003
NM_000153.4(GALC):c.434C>T (p.Thr145Ile) rs781281519 0.00003
NM_000153.4(GALC):c.788C>G (p.Ala263Gly) rs1292976689 0.00003
NM_000153.4(GALC):c.839A>G (p.Asn280Ser) rs1463589873 0.00003
NM_000153.4(GALC):c.94C>A (p.Leu32Met) rs770807058 0.00003
NM_000153.4(GALC):c.122G>C (p.Gly41Ala) rs1287272360 0.00002
NM_000153.4(GALC):c.1453C>T (p.Pro485Ser) rs771051919 0.00002
NM_000153.4(GALC):c.1587G>A (p.Thr529=) rs184748969 0.00002
NM_000153.4(GALC):c.1671-1G>A rs1182103005 0.00002
NM_000153.4(GALC):c.318G>A (p.Gly106=) rs886050867 0.00002
NM_000153.4(GALC):c.448C>T (p.Pro150Ser) rs372568602 0.00002
NM_000153.4(GALC):c.583-4G>T rs751820306 0.00002
NM_000153.4(GALC):c.674C>A (p.Ala225Glu) rs373077659 0.00002
NM_000153.4(GALC):c.909-10A>G rs398123178 0.00002
NM_000153.2(GALC):c.-261C>A rs1307710694 0.00001
NM_000153.3(GALC):c.-21C>T rs768255795 0.00001
NM_000153.4(GALC):c.*12G>A rs372641636 0.00001
NM_000153.4(GALC):c.*14A>G rs143444570 0.00001
NM_000153.4(GALC):c.-17G>A rs886050868 0.00001
NM_000153.4(GALC):c.108G>A (p.Leu36=) rs923261706 0.00001
NM_000153.4(GALC):c.1172A>G (p.His391Arg) rs1395397636 0.00001
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) rs1200769534 0.00001
NM_000153.4(GALC):c.1184T>C (p.Ile395Thr) rs569569879 0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000153.4(GALC):c.118G>A (p.Gly40Ser) rs780050514 0.00001
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu) rs1365128831 0.00001
NM_000153.4(GALC):c.1280A>G (p.Tyr427Cys) rs201591903 0.00001
NM_000153.4(GALC):c.1418G>A (p.Arg473His) rs374868151 0.00001
NM_000153.4(GALC):c.1436T>C (p.Leu479Pro) rs1414778573 0.00001
NM_000153.4(GALC):c.1441C>T (p.Pro481Ser) rs759122249 0.00001
NM_000153.4(GALC):c.1443A>G (p.Pro481=) rs1359281521 0.00001
NM_000153.4(GALC):c.1572C>T (p.Gly524=) rs753164684 0.00001
NM_000153.4(GALC):c.1727T>C (p.Val576Ala) rs774555128 0.00001
NM_000153.4(GALC):c.1752A>G (p.Lys584=) rs201016488 0.00001
NM_000153.4(GALC):c.1760T>C (p.Ile587Thr) rs368818550 0.00001
NM_000153.4(GALC):c.1871T>A (p.Val624Asp) rs1308536313 0.00001
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro) rs1418694289 0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met) rs766762599 0.00001
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) rs769851272 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.2001A>C (p.Gly667=) rs769902280 0.00001
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys) rs367958957 0.00001
NM_000153.4(GALC):c.251A>G (p.Asp84Gly) rs1555383882 0.00001
NM_000153.4(GALC):c.40G>A (p.Ala14Thr) rs1180517690 0.00001
NM_000153.4(GALC):c.443-12T>G rs886038261 0.00001
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866 0.00001
NM_000153.4(GALC):c.486C>A (p.Asp162Glu) rs767286511 0.00001
NM_000153.4(GALC):c.582+5G>A rs757016859 0.00001
NM_000153.4(GALC):c.583-6T>A rs398123176 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000153.4(GALC):c.752+3A>G rs1567000413 0.00001
NM_000153.4(GALC):c.787G>A (p.Ala263Thr) rs1308816724 0.00001
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028 0.00001
NM_000153.4(GALC):c.84G>A (p.Ala28=) rs1246098637 0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr) rs1349064845 0.00001
NM_000153.4(GALC):c.927A>C (p.Leu309Phe) rs758904079 0.00001
NM_000153.4(GALC):c.949T>A (p.Leu317Met) rs766071179 0.00001
NC_000014.8:g.(?_88416169)_(88459863_?)dup
NC_000014.9:g.87925139C>T rs1555377065
NC_000014.9:g.87925152T>C rs1555377066
NC_000014.9:g.87925176G>A rs1234372203
NM_000153.2(GALC):c.-218G>C rs1555384433
NM_000153.2(GALC):c.-219dup rs1555384436
NM_000153.2(GALC):c.-234delGinsTTCC rs1555384440
NM_000153.2(GALC):c.-257dup rs1555384444
NM_000153.2(GALC):c.-285dup rs1482465546
NM_000153.2(GALC):c.-296dup rs1555384458
NM_000153.2(GALC):c.-317delG rs1555384465
NM_000153.3(GALC):c.-31delC rs886050869
NM_000153.3(GALC):c.-73G>A rs1887315658
NM_000153.3(GALC):c.-85T>A rs886050870
NM_000153.4(GALC):c.*1584G>A rs893698376
NM_000153.4(GALC):c.*1598G>A rs574189020
NM_000153.4(GALC):c.*1625A>G rs188934153
NM_000153.4(GALC):c.*363A>G rs539617222
NM_000153.4(GALC):c.*366A>G rs1884480659
NM_000153.4(GALC):c.*375A>G rs1884480331
NM_000153.4(GALC):c.*389G>T rs1884479809
NM_000153.4(GALC):c.*455A>G rs1884476134
NM_000153.4(GALC):c.*486C>G rs1280004708
NM_000153.4(GALC):c.*499T>C rs1226531123
NM_000153.4(GALC):c.*591G>A rs886050863
NM_000153.4(GALC):c.*877T>A rs185181747
NM_000153.4(GALC):c.*994C>A rs1884455084
NM_000153.4(GALC):c.*999T>C rs1267707327
NM_000153.4(GALC):c.-68C>T rs369469562
NM_000153.4(GALC):c.-80_-75delATCAGC rs564526560
NM_000153.4(GALC):c.103G>A (p.Ala35Thr) rs1359964555
NM_000153.4(GALC):c.1042A>G (p.Thr348Ala) rs200516260
NM_000153.4(GALC):c.1049T>G (p.Phe350Cys)
NM_000153.4(GALC):c.1072C>G (p.Leu358Val)
NM_000153.4(GALC):c.1078A>G (p.Thr360Ala) rs1298443144
NM_000153.4(GALC):c.1078A>T (p.Thr360Ser)
NM_000153.4(GALC):c.1081G>A (p.Val361Ile)
NM_000153.4(GALC):c.1109_1110delinsCG (p.Tyr370Ser)
NM_000153.4(GALC):c.1110C>T (p.Tyr370=) rs372793797
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr) rs759286485
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.1150A>G (p.Ile384Val) rs1192791166
NM_000153.4(GALC):c.1159A>G (p.Met387Val)
NM_000153.4(GALC):c.1161+9T>C rs1885891419
NM_000153.4(GALC):c.1162-4dup rs11300320
NM_000153.4(GALC):c.1162-5_1162-4delinsC rs1555379806
NM_000153.4(GALC):c.1162-6_1162-5delinsA rs1555379811
NM_000153.4(GALC):c.1165C>G (p.His389Asp) rs368284541
NM_000153.4(GALC):c.1168A>G (p.Lys390Glu) rs2139963715
NM_000153.4(GALC):c.1183A>C (p.Ile395Leu) rs763125933
NM_000153.4(GALC):c.119G>A (p.Gly40Asp) rs572947747
NM_000153.4(GALC):c.119G>C (p.Gly40Ala)
NM_000153.4(GALC):c.1202A>G (p.Tyr401Cys)
NM_000153.4(GALC):c.1206C>G (p.Phe402Leu)
NM_000153.4(GALC):c.1208A>G (p.Asn403Ser) rs777305549
NM_000153.4(GALC):c.1213T>A (p.Ser405Thr)
NM_000153.4(GALC):c.1213_1214insTA (p.Ser405fs) rs1885266822
NM_000153.4(GALC):c.1221A>T (p.Gln407His)
NM_000153.4(GALC):c.1225G>T (p.Ala409Ser)
NM_000153.4(GALC):c.1247C>G (p.Ser416Cys)
NM_000153.4(GALC):c.1251+5G>A rs755870379
NM_000153.4(GALC):c.1251+5_1251+8del
NM_000153.4(GALC):c.1252-3C>T
NM_000153.4(GALC):c.1268T>C (p.Leu423Pro) rs1566976644
NM_000153.4(GALC):c.1298C>T (p.Thr433Ile)
NM_000153.4(GALC):c.1303G>A (p.Glu435Lys)
NM_000153.4(GALC):c.1338+16A>G
NM_000153.4(GALC):c.1338G>C (p.Trp446Cys) rs2139961409
NM_000153.4(GALC):c.1340_1341delinsAT (p.Leu447His)
NM_000153.4(GALC):c.1348A>G (p.Ser450Gly) rs1019851510
NM_000153.4(GALC):c.1350C>G (p.Ser450Arg)
NM_000153.4(GALC):c.1351G>T (p.Asp451Tyr) rs557778528
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp) rs1057520151
NM_000153.4(GALC):c.1358G>T (p.Ser453Ile) rs2139956768
NM_000153.4(GALC):c.1364C>T (p.Thr455Ile)
NM_000153.4(GALC):c.1366C>G (p.Leu456Val)
NM_000153.4(GALC):c.1367T>C (p.Leu456Pro)
NM_000153.4(GALC):c.1370G>A (p.Ser457Asn) rs1195834672
NM_000153.4(GALC):c.1370G>T (p.Ser457Ile) rs1195834672
NM_000153.4(GALC):c.1376A>G (p.His459Arg) rs755193670
NM_000153.4(GALC):c.1385A>C (p.Glu462Ala)
NM_000153.4(GALC):c.1392C>A (p.Phe464Leu) rs1313792705
NM_000153.4(GALC):c.1396C>A (p.Leu466Ile)
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile) rs750431739
NM_000153.4(GALC):c.1405C>G (p.Leu469Val)
NM_000153.4(GALC):c.1405C>T (p.Leu469Phe)
NM_000153.4(GALC):c.1417C>T (p.Arg473Cys)
NM_000153.4(GALC):c.1460C>T (p.Pro487Leu)
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1489+6T>G
NM_000153.4(GALC):c.1490-7T>A rs1885047183
NM_000153.4(GALC):c.1490-8C>G rs1362723313
NM_000153.4(GALC):c.1496C>T (p.Pro499Leu) rs2139951685
NM_000153.4(GALC):c.14T>C (p.Leu5Pro)
NM_000153.4(GALC):c.1519T>C (p.Phe507Leu) rs1555379155
NM_000153.4(GALC):c.1523C>T (p.Ala508Val) rs2139951602
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.1561G>A (p.Glu521Lys)
NM_000153.4(GALC):c.1577A>G (p.His526Arg) rs2139951434
NM_000153.4(GALC):c.1589T>C (p.Leu530Pro) rs2139951392
NM_000153.4(GALC):c.1592G>C (p.Arg531Pro) rs200378205
NM_000153.4(GALC):c.1622G>T (p.Trp541Leu) rs2139951226
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu) rs1289015582
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala) rs886050864
NM_000153.4(GALC):c.1667A>G (p.Asn556Ser)
NM_000153.4(GALC):c.1670+6A>G
NM_000153.4(GALC):c.1718C>T (p.Thr573Ile) rs2139941538
NM_000153.4(GALC):c.1744G>A (p.Val582Ile)
NM_000153.4(GALC):c.1758T>C (p.Gly586=) rs746189262
NM_000153.4(GALC):c.1759A>G (p.Ile587Val)
NM_000153.4(GALC):c.1772G>A (p.Ser591Asn)
NM_000153.4(GALC):c.1774G>A (p.Ala592Thr)
NM_000153.4(GALC):c.1774G>T (p.Ala592Ser) rs1360345372
NM_000153.4(GALC):c.1778G>C (p.Arg593Thr) rs1566969057
NM_000153.4(GALC):c.1781G>A (p.Gly594Glu) rs2139941367
NM_000153.4(GALC):c.1789_1800del (p.Phe597_Phe600del) rs2139941321
NM_000153.4(GALC):c.1816A>T (p.Arg606Trp)
NM_000153.4(GALC):c.1892C>T (p.Thr631Ile)
NM_000153.4(GALC):c.1904C>A (p.Thr635Asn)
NM_000153.4(GALC):c.1911+4A>G
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter) rs1884501856
NM_000153.4(GALC):c.1946C>G (p.Ser649Cys) rs1158521193
NM_000153.4(GALC):c.196-14A>G
NM_000153.4(GALC):c.1978A>G (p.Lys660Glu)
NM_000153.4(GALC):c.1980G>C (p.Lys660Asn)
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) rs1060499761
NM_000153.4(GALC):c.2003C>G (p.Thr668Ser)
NM_000153.4(GALC):c.2006A>G (p.His669Arg)
NM_000153.4(GALC):c.2025G>T (p.Gln675His)
NM_000153.4(GALC):c.2033A>G (p.Asn678Ser)
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000153.4(GALC):c.2050A>G (p.Thr684Ala)
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser) rs756141815
NM_000153.4(GALC):c.2058A>C (p.Ter686Tyr)
NM_000153.4(GALC):c.205C>G (p.Arg69Gly)
NM_000153.4(GALC):c.250G>A (p.Asp84Asn) rs2139759348
NM_000153.4(GALC):c.254A>C (p.Tyr85Ser)
NM_000153.4(GALC):c.25T>G (p.Ser9Ala)
NM_000153.4(GALC):c.264+5T>A rs2139759293
NM_000153.4(GALC):c.265-3C>G
NM_000153.4(GALC):c.270T>A (p.Asn90Lys)
NM_000153.4(GALC):c.280T>C (p.Ser94Pro)
NM_000153.4(GALC):c.313G>A (p.Asp105Asn) rs1361755363
NM_000153.4(GALC):c.328+3A>G rs377682096
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.32A>G (p.Gln11Arg) rs2139769922
NM_000153.4(GALC):c.356A>C (p.Tyr119Ser) rs2139754980
NM_000153.4(GALC):c.369G>T (p.Glu123Asp)
NM_000153.4(GALC):c.370A>G (p.Asn124Asp)
NM_000153.4(GALC):c.37C>G (p.Arg13Gly) rs1173602413
NM_000153.4(GALC):c.383G>C (p.Gly128Ala) rs367604629
NM_000153.4(GALC):c.398TGA[1] (p.Met134del) rs1886979623
NM_000153.4(GALC):c.3G>T (p.Met1Ile) rs758685128
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.442+4A>G rs753169234
NM_000153.4(GALC):c.44A>G (p.Lys15Arg)
NM_000153.4(GALC):c.454T>C (p.Ser152Pro)
NM_000153.4(GALC):c.484G>A (p.Asp162Asn)
NM_000153.4(GALC):c.509T>C (p.Leu170Pro)
NM_000153.4(GALC):c.50T>A (p.Met17Lys)
NM_000153.4(GALC):c.514G>A (p.Ala172Thr)
NM_000153.4(GALC):c.516C>T (p.Ala172=) rs1248283732
NM_000153.4(GALC):c.518A>G (p.Tyr173Cys) rs1388075066
NM_000153.4(GALC):c.541G>A (p.Gly181Ser)
NM_000153.4(GALC):c.555_575del (p.His186_Tyr192del) rs1555383500
NM_000153.4(GALC):c.578T>C (p.Ile193Thr) rs1555383498
NM_000153.4(GALC):c.581G>C (p.Gly194Ala) rs963756824
NM_000153.4(GALC):c.583-11T>C rs886050865
NM_000153.4(GALC):c.583-6T>G
NM_000153.4(GALC):c.583A>G (p.Ile195Val) rs1555383309
NM_000153.4(GALC):c.597G>T (p.Arg199Ser) rs1886780825
NM_000153.4(GALC):c.598T>C (p.Ser200Pro)
NM_000153.4(GALC):c.61_63delinsCCA (p.Ala21Pro)
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.635T>C (p.Met212Thr)
NM_000153.4(GALC):c.63G>A (p.Ala21=)
NM_000153.4(GALC):c.64G>C (p.Gly22Arg) rs768031195
NM_000153.4(GALC):c.65G>A (p.Gly22Asp) rs372285275
NM_000153.4(GALC):c.65G>C (p.Gly22Ala) rs372285275
NM_000153.4(GALC):c.678T>C (p.Ser226=) rs1595226323
NM_000153.4(GALC):c.679G>C (p.Asp227His)
NM_000153.4(GALC):c.680A>G (p.Asp227Gly) rs1886495923
NM_000153.4(GALC):c.682A>G (p.Asn228Asp) rs2140016299
NM_000153.4(GALC):c.68C>T (p.Ser23Leu)
NM_000153.4(GALC):c.691G>A (p.Glu231Lys) rs542231350
NM_000153.4(GALC):c.693G>C (p.Glu231Asp)
NM_000153.4(GALC):c.693G>T (p.Glu231Asp)
NM_000153.4(GALC):c.695C>G (p.Ser232Cys)
NM_000153.4(GALC):c.709A>G (p.Met237Val)
NM_000153.4(GALC):c.719A>G (p.Asp240Gly)
NM_000153.4(GALC):c.71C>G (p.Ala24Gly)
NM_000153.4(GALC):c.724G>A (p.Glu242Lys)
NM_000153.4(GALC):c.750A>G (p.Ile250Met) rs2140016054
NM_000153.4(GALC):c.752+8A>C rs750292340
NM_000153.4(GALC):c.754G>C (p.Ala252Pro) rs866358110
NM_000153.4(GALC):c.758A>G (p.His253Arg)
NM_000153.4(GALC):c.773A>C (p.His258Pro)
NM_000153.4(GALC):c.77G>A (p.Arg26His)
NM_000153.4(GALC):c.79G>T (p.Ala27Ser)
NM_000153.4(GALC):c.815C>T (p.Ser272Phe)
NM_000153.4(GALC):c.82G>T (p.Ala28Ser)
NM_000153.4(GALC):c.830G>A (p.Ser277Asn) rs1886145312
NM_000153.4(GALC):c.832A>G (p.Thr278Ala) rs886042645
NM_000153.4(GALC):c.83C>T (p.Ala28Val)
NM_000153.4(GALC):c.848T>C (p.Met283Thr)
NM_000153.4(GALC):c.85G>A (p.Val29Met)
NM_000153.4(GALC):c.896_897delinsAG (p.Gly299Glu) rs2140001432
NM_000153.4(GALC):c.8A>G (p.Glu3Gly)
NM_000153.4(GALC):c.8A>T (p.Glu3Val) rs2139770080
NM_000153.4(GALC):c.905C>T (p.Thr302Ile)
NM_000153.4(GALC):c.909-3del rs1212915595
NM_000153.4(GALC):c.92T>C (p.Leu31Ser)
NM_000153.4(GALC):c.938A>G (p.Tyr313Cys)
NM_000153.4(GALC):c.973A>G (p.Met325Val) rs772190761
NM_000153.4(GALC):c.977C>T (p.Thr326Met)
NM_000153.4:c.[1592G>A];[334A>G]
NM_001201402.2(GALC):c.62T>C (p.Ile21Thr)

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