ClinVar Miner

List of variants in gene GALC studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 312
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1670+204T>C rs430536 0.97273
NM_000153.4(GALC):c.1162-152G>A rs443019 0.95942
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466 0.95773
NM_000153.4(GALC):c.1912-220T>G rs390474 0.95773
NM_000153.4(GALC):c.1162-69G>A rs431748 0.95607
NM_000153.4(GALC):c.1251+150C>T rs417521 0.95597
NM_000153.4(GALC):c.1252-166G>A rs451073 0.95595
NM_000153.4(GALC):c.1162-197T>C rs428542 0.95592
NM_000153.4(GALC):c.908+270T>A rs397644 0.95591
NM_000153.4(GALC):c.1252-115T>C rs440426 0.95582
NM_000153.4(GALC):c.1834+5C>G rs448805 0.95475
NM_000153.4(GALC):c.1912-170C>T rs433764 0.95467
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_000153.4(GALC):c.1670+94A>G rs444902 0.95460
NM_000153.4(GALC):c.1835-79A>G rs417276 0.95459
NM_000153.4(GALC):c.1671-319A>G rs367125 0.95457
NM_000153.4(GALC):c.1339-61C>T rs398343 0.95455
NM_000153.4(GALC):c.196-43C>T rs2289511 0.59150
NM_000153.4(GALC):c.1670+60C>T rs366615 0.49953
NM_000153.4(GALC):c.1912-221C>T rs434541 0.49949
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000153.4(GALC):c.1671-162A>G rs381069 0.46023
NM_000153.4(GALC):c.1490-233C>T rs3910682 0.45538
NM_000153.4(GALC):c.1338+159C>T rs3213917 0.45220
NM_000153.4(GALC):c.1671-15C>T rs12432149 0.45011
NM_000153.4(GALC):c.1911+122C>G rs45567441 0.44852
NM_000153.4(GALC):c.1911+129G>A rs45626938 0.44823
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076 0.39907
NM_000153.4(GALC):c.1338+172C>T rs3213916 0.30746
NM_000153.4(GALC):c.264+108G>A rs2245387 0.30074
NM_000153.4(GALC):c.329-240T>C rs2165567 0.29858
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666 0.29819
NM_000153.4(GALC):c.329-332A>C rs2119702 0.28381
NM_000153.4(GALC):c.622-284C>T rs112469201 0.12081
NM_000153.4(GALC):c.328+19T>A rs74337989 0.12002
NM_000153.4(GALC):c.1034-125G>C rs17760374 0.11466
NM_000153.4(GALC):c.443-51G>A rs77468347 0.11443
NM_000153.4(GALC):c.622-273G>A rs148708614 0.11438
NM_000153.4(GALC):c.753-59C>T rs17687364 0.11436
NM_000153.4(GALC):c.908+122G>A rs10483988 0.11435
NM_000153.4(GALC):c.196-70G>A rs74689143 0.11432
NM_000153.4(GALC):c.583-56G>A rs79515863 0.11428
NM_000153.4(GALC):c.582+99C>T rs17798011 0.11427
NM_000153.4(GALC):c.583-288G>A rs74563284 0.11425
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_000153.4(GALC):c.1033+145A>G rs17760463 0.11423
NM_000153.4(GALC):c.1161+301C>T rs3906822 0.11421
NM_000153.4(GALC):c.621+24T>C rs45568734 0.11420
NM_000153.4(GALC):c.1034-270A>G rs78508589 0.11417
NM_000153.4(GALC):c.1161+38T>C rs17687109 0.11416
NM_000153.4(GALC):c.621+63T>A rs17797987 0.11416
NM_000153.4(GALC):c.621+98T>C rs17797981 0.11415
NM_000153.4(GALC):c.1034-314A>G rs17687144 0.11413
NM_000153.4(GALC):c.622-175C>T rs111931900 0.11402
NM_000153.4(GALC):c.622-162del rs112016425 0.11400
NM_000153.4(GALC):c.329-35G>A rs77466023 0.11380
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946 0.11300
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056 0.11296
NM_000153.4(GALC):c.195+164G>A rs78727833 0.11288
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362 0.11287
NM_000153.2(GALC):c.-148T>C rs76999174 0.11247
NM_000153.4(GALC):c.1835-204C>G rs112634971 0.09818
NM_000153.4(GALC):c.1489+187G>T rs17123925 0.09033
NM_000153.4(GALC):c.1339-79A>G rs60797274 0.07821
NM_000153.4(GALC):c.909-193A>G rs72692072 0.03916
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_000153.4(GALC):c.1338+260G>A rs7161703 0.03704
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556 0.03162
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647 0.02565
NM_000153.4(GALC):c.328+44A>G rs73312826 0.02319
NM_000153.4(GALC):c.1671-155T>G rs74073881 0.01821
NM_000153.4(GALC):c.1338+23T>C rs74076317 0.01816
NM_000153.4(GALC):c.1161+240T>G rs74073729 0.01799
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730 0.01792
NM_000153.4(GALC):c.622-325C>T rs146803770 0.01675
NM_000153.4(GALC):c.1339-221T>A rs73329338 0.01442
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_000153.4(GALC):c.1788C>T (p.Phe596=) rs115018138 0.00658
NM_000153.4(GALC):c.908+229G>A rs189788968 0.00658
NM_000153.4(GALC):c.621+94G>T rs149814143 0.00649
NM_000153.4(GALC):c.582+240_582+242dup rs1259652443 0.00577
NM_000153.4(GALC):c.1489+134G>A rs17123928 0.00531
NM_000153.4(GALC):c.1489+133C>T rs116056744 0.00484
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_000153.4(GALC):c.1490-245C>G rs141431914 0.00483
NM_000153.4(GALC):c.1490-205A>G rs115987290 0.00482
NM_000153.4(GALC):c.622-166C>T rs527451288 0.00448
NM_000153.4(GALC):c.622-167G>C rs547582334 0.00436
NM_000153.4(GALC):c.-66G>T rs146439771 0.00434
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_000153.4(GALC):c.582+209G>T rs113631096 0.00331
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_000153.4(GALC):c.1162-33A>G rs113021000 0.00322
NM_000153.4(GALC):c.1236T>A (p.Val412=) rs112531377 0.00321
NM_000153.4(GALC):c.1033+134G>T rs111872618 0.00320
NM_000153.4(GALC):c.1834+23A>T rs367926377 0.00302
NM_000153.4(GALC):c.1251+47A>G rs148098570 0.00300
NM_000153.4(GALC):c.443-189G>A rs190926611 0.00300
NM_000153.4(GALC):c.442+36T>G rs140065772 0.00299
NM_000153.4(GALC):c.1670+19A>T rs141839955 0.00298
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188 0.00270
NM_000153.4(GALC):c.-463C>T rs181956126 0.00254
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.1862G>A (p.Arg621His) rs192911803 0.00224
NM_000153.4(GALC):c.-318T>C rs556647825 0.00210
NM_000153.4(GALC):c.909-40A>G rs199667484 0.00208
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_000153.4(GALC):c.1632T>C (p.Asp544=) rs9672064 0.00196
NM_000153.4(GALC):c.-327G>T rs185943390 0.00120
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869 0.00107
NM_000153.2(GALC):c.-223C>T rs181004720 0.00076
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.1434G>A (p.Pro478=) rs200231860 0.00042
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) rs73312829 0.00041
NM_000153.4(GALC):c.49A>G (p.Met17Val) rs376662045 0.00029
NM_000153.4(GALC):c.1161+66C>T rs59068116 0.00028
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.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000153.2(GALC):c.-285G>A rs557653194 0.00016
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.60C>T (p.Ala20=) rs188488238 0.00013
NM_000153.4(GALC):c.328+6A>G rs201977747 0.00011
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser) rs200516260 0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000153.4(GALC):c.1803A>G (p.Ala601=) rs372465848 0.00009
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122 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.1592G>A (p.Arg531His) rs200378205 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.196-9T>C rs776907825 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.332G>A (p.Gly111Asp) rs746487628 0.00004
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) rs768993170 0.00004
NM_000153.4(GALC):c.639G>C (p.Leu213=) rs373343608 0.00004
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000153.4(GALC):c.1791C>T (p.Phe597=) rs1002946173 0.00003
NM_000153.4(GALC):c.388G>A (p.Glu130Lys) rs374635469 0.00003
NM_000153.4(GALC):c.788C>G (p.Ala263Gly) rs1292976689 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 0.00003
NM_000153.4(GALC):c.1587G>A (p.Thr529=) rs184748969 0.00002
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) rs766007316 0.00002
NM_000153.4(GALC):c.1934T>G (p.Leu645Arg) rs780593419 0.00002
NM_000153.4(GALC):c.391T>C (p.Trp131Arg) rs746507078 0.00002
NM_000153.4(GALC):c.430del (p.Ile144fs) rs775277935 0.00002
NM_000153.4(GALC):c.448C>T (p.Pro150Ser) rs372568602 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000153.4(GALC):c.909-10A>G rs398123178 0.00002
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys) rs757407613 0.00001
NM_000153.4(GALC):c.1005C>T (p.Tyr335=) rs1319599087 0.00001
NM_000153.4(GALC):c.1027G>T (p.Val343Leu) rs753217734 0.00001
NM_000153.4(GALC):c.118G>A (p.Gly40Ser) rs780050514 0.00001
NM_000153.4(GALC):c.1251T>C (p.Phe417=) rs200605515 0.00001
NM_000153.4(GALC):c.1418G>A (p.Arg473His) rs374868151 0.00001
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319 0.00001
NM_000153.4(GALC):c.1572C>T (p.Gly524=) rs753164684 0.00001
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754 0.00001
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg) rs779864190 0.00001
NM_000153.4(GALC):c.1896C>G (p.Leu632=) rs1884764241 0.00001
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) rs769851272 0.00001
NM_000153.4(GALC):c.1913G>T (p.Gly638Val) rs1162671660 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.1997T>C (p.Ile666Thr) rs1461381844 0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145 0.00001
NM_000153.4(GALC):c.251A>G (p.Asp84Gly) rs1555383882 0.00001
NM_000153.4(GALC):c.287A>G (p.His96Arg) rs748593957 0.00001
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) rs756690487 0.00001
NM_000153.4(GALC):c.379C>T (p.Arg127Ter) rs200532368 0.00001
NM_000153.4(GALC):c.428A>G (p.Asn143Ser) rs753623482 0.00001
NM_000153.4(GALC):c.461C>A (p.Pro154His) rs758557526 0.00001
NM_000153.4(GALC):c.486C>A (p.Asp162Glu) rs767286511 0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284 0.00001
NM_000153.4(GALC):c.582+1G>A rs750881596 0.00001
NM_000153.4(GALC):c.583-6T>A rs398123176 0.00001
NM_000153.4(GALC):c.592G>A (p.Glu198Lys) rs909979938 0.00001
NM_000153.4(GALC):c.622-1G>T rs1886499951 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000153.4(GALC):c.787G>A (p.Ala263Thr) rs1308816724 0.00001
NM_000153.4(GALC):c.908+1G>A rs750524447 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000153.4(GALC):c.982C>T (p.Gln328Ter) rs1337518083 0.00001
GRCh37/hg19 14q31.3(chr14:88382306-88419358)x1
GRCh37/hg19 14q31.3(chr14:88398357-88422853)x1
GRCh37/hg19 14q31.3(chr14:88398406-88422853)x1
GRCh37/hg19 14q31.3(chr14:88398407-88422569)x1
GRCh37/hg19 14q31.3(chr14:88399247-88419358)x1
GRCh37/hg19 14q31.3(chr14:88399247-88420282)x1
GRCh37/hg19 14q31.3(chr14:88399488-88422442)x1
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1
GRCh37/hg19 14q31.3(chr14:88400285-88422569)x1
GRCh37/hg19 14q31.3(chr14:88401076-88417092)x1
NM_000153.2(GALC):c.-237G>A
NM_000153.3(GALC):c.1834+22dup rs34752717
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.4(GALC):c.-287G>A rs73312836
NM_000153.4(GALC):c.-80_-75delATCAGC rs564526560
NM_000153.4(GALC):c.1021del (p.Val341fs) rs1057517382
NM_000153.4(GALC):c.1031C>G (p.Ser344Ter) rs1555381559
NM_000153.4(GALC):c.1034-62del rs201562753
NM_000153.4(GALC):c.1034-72dup rs201562753
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs) rs1555381439
NM_000153.4(GALC):c.1083dup (p.Gly362fs) rs767236077
NM_000153.4(GALC):c.1107C>G (p.Ser369Arg) rs1885895082
NM_000153.4(GALC):c.1109_1110delinsCG (p.Tyr370Ser)
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.1131A>G (p.Leu377=) rs2139991961
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1161+248del rs143103231
NM_000153.4(GALC):c.1161+2T>G rs398123175
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1171_1175delinsA (p.His391fs) rs1885269233
NM_000153.4(GALC):c.1302C>G (p.Ser434=)
NM_000153.4(GALC):c.1338G>C (p.Trp446Cys) rs2139961409
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp) rs1057520151
NM_000153.4(GALC):c.1399dup (p.Thr467fs) rs1057518390
NM_000153.4(GALC):c.1450C>T (p.Gln484Ter)
NM_000153.4(GALC):c.1459C>T (p.Pro487Ser)
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1468T>G (p.Tyr490Asp)
NM_000153.4(GALC):c.1472del (p.Lys491fs) rs771489305
NM_000153.4(GALC):c.1488_1489+2del rs1555379355
NM_000153.4(GALC):c.1531del (p.Thr511fs) rs2139951585
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu) rs1289015582
NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter) rs1566972341
NM_000153.4(GALC):c.1686A>T (p.Ile562=) rs2139941725
NM_000153.4(GALC):c.1698A>G (p.Val566=) rs421466
NM_000153.4(GALC):c.16C>T (p.Leu6Phe)
NM_000153.4(GALC):c.1736C>A (p.Ala579Glu) rs1423625765
NM_000153.4(GALC):c.1736_1739del (p.Ala579fs) rs754668472
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
NM_000153.4(GALC):c.1758T>C (p.Gly586=) rs746189262
NM_000153.4(GALC):c.1835C>T (p.Ala612Val)
NM_000153.4(GALC):c.1842G>A (p.Trp614Ter) rs1884767890
NM_000153.4(GALC):c.1872_1888del (p.Thr625fs) rs1884764754
NM_000153.4(GALC):c.1886G>T (p.Trp629Leu) rs1566967736
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) rs749708827
NM_000153.4(GALC):c.1897dup (p.Thr633fs) rs1555378538
NM_000153.4(GALC):c.1912-238T>C rs79558046
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter) rs1884501856
NM_000153.4(GALC):c.196-201del rs112118889
NM_000153.4(GALC):c.196-3del rs561184126
NM_000153.4(GALC):c.196-4_196-3del rs561184126
NM_000153.4(GALC):c.1999G>A (p.Gly667Arg)
NM_000153.4(GALC):c.2003C>T (p.Thr668Ile)
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs) rs2139925505
NM_000153.4(GALC):c.2037_2040del (p.Phe679fs) rs754507781
NM_000153.4(GALC):c.2037dup (p.Leu680fs) rs2139925538
NM_000153.4(GALC):c.2039T>C (p.Leu680Pro)
NM_000153.4(GALC):c.2053C>T (p.Arg685Cys)
NM_000153.4(GALC):c.236G>A (p.Arg79His)
NM_000153.4(GALC):c.293dup (p.Leu98fs) rs757799254
NM_000153.4(GALC):c.298G>A (p.Val100Met)
NM_000153.4(GALC):c.308G>T (p.Gly103Val) rs1567014169
NM_000153.4(GALC):c.328+3A>G rs377682096
NM_000153.4(GALC):c.328G>A (p.Asp110Asn)
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.349A>C (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.365A>G (p.Asp122Gly)
NM_000153.4(GALC):c.398TGA[1] (p.Met134del) rs1886979623
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.443-127_443-123del rs140138159
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) rs745620101
NM_000153.4(GALC):c.479G>C (p.Gly160Ala)
NM_000153.4(GALC):c.49A>C (p.Met17Leu) rs376662045
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.582+241_582+242dup rs36113094
NM_000153.4(GALC):c.582+241_582+243dup rs36113094
NM_000153.4(GALC):c.582+241dup rs36113094
NM_000153.4(GALC):c.582+256_582+258del rs36113094
NM_000153.4(GALC):c.582+258del rs36113094
NM_000153.4(GALC):c.583-108G>A rs17797993
NM_000153.4(GALC):c.583-108G>T rs17797993
NM_000153.4(GALC):c.606T>G (p.Asn202Lys)
NM_000153.4(GALC):c.621+6T>C
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.622-137CAAA[4] rs146880216
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.65G>A (p.Gly22Asp) rs372285275
NM_000153.4(GALC):c.680A>G (p.Asp227Gly) rs1886495923
NM_000153.4(GALC):c.69G>T (p.Ser23=) rs763851570
NM_000153.4(GALC):c.709A>G (p.Met237Val)
NM_000153.4(GALC):c.718G>A (p.Asp240Asn) rs2140016138
NM_000153.4(GALC):c.753-5dup rs533067313
NM_000153.4(GALC):c.764C>G (p.Pro255Arg) rs1886148366
NM_000153.4(GALC):c.789A>G (p.Ala263=) rs1886147283
NM_000153.4(GALC):c.832A>C (p.Thr278Pro) rs886042645
NM_000153.4(GALC):c.847A>G (p.Met283Val) rs2140001597
NM_000153.4(GALC):c.862T>C (p.Trp288Arg) rs398123177
NM_000153.4(GALC):c.943del (p.Glu315fs) rs1886008578
NM_000153.4(GALC):c.952C>G (p.Pro318Ala) rs1057516642
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.973A>G (p.Met325Val) rs772190761
NM_000153.4(GALC):c.977C>T (p.Thr326Met)
NM_000153.4(GALC):c.991T>C (p.Trp331Arg) rs2139996182

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