ClinVar Miner

List of variants in gene GALC reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466 0.95773
NM_000153.4(GALC):c.1834+5C>G rs448805 0.95475
NM_000153.4(GALC):c.*989G>A rs370559 0.95463
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_000153.4(GALC):c.*627A>G rs413750 0.95456
NM_000153.4(GALC):c.*723G>A rs412915 0.49978
NM_000153.4(GALC):c.*626C>T rs432946 0.49976
NM_000153.4(GALC):c.*1453A>G rs405567 0.49973
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000153.4(GALC):c.*590T>C rs1042029 0.45472
NM_000153.4(GALC):c.*1186_*1188del rs141199615 0.45391
NM_000153.4(GALC):c.*1275G>A rs1042042 0.45032
NM_000153.4(GALC):c.1671-15C>T rs12432149 0.45011
NM_000153.4(GALC):c.*1588T>G rs17198 0.44979
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076 0.39907
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666 0.29819
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
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.75C>A (p.Gly25=) rs111976362 0.11287
NM_000153.4(GALC):c.*1126G>A rs1042035 0.11091
NM_000153.4(GALC):c.*709A>C rs45572135 0.05219
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
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.1072C>T (p.Leu358=) rs74073730 0.01792
NM_000153.4(GALC):c.*801A>T rs114174103 0.01526
NM_000153.4(GALC):c.*395C>T rs3850376 0.00770
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.1006G>A (p.Val336Met) rs185073540 0.00368
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188 0.00270
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.659G>A (p.Arg220Gln) rs199967869 0.00107
NM_000153.4(GALC):c.-67T>G rs571945132 0.00070
NM_000153.4(GALC):c.*1451C>A rs138919458 0.00054
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.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000153.4(GALC):c.708C>T (p.Ser236=) rs773666802 0.00017
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
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.*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.1731C>T (p.Phe577=) rs201560122 0.00006
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260 0.00006
NM_000153.4(GALC):c.53C>T (p.Thr18Ile) rs755139799 0.00006
NM_000153.4(GALC):c.1619C>T (p.Thr540Ile) rs557464603 0.00004
NM_000153.4(GALC):c.28T>C (p.Trp10Arg) rs767913083 0.00004
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000153.4(GALC):c.434C>T (p.Thr145Ile) rs781281519 0.00003
NM_000153.4(GALC):c.1671-1G>A rs1182103005 0.00002
NM_000153.4(GALC):c.318G>A (p.Gly106=) rs886050867 0.00002
NM_000153.3(GALC):c.-21C>T rs768255795 0.00001
NM_000153.4(GALC):c.-17G>A rs886050868 0.00001
NM_000153.4(GALC):c.1418G>A (p.Arg473His) rs374868151 0.00001
NM_000153.4(GALC):c.1443A>G (p.Pro481=) rs1359281521 0.00001
NM_000153.4(GALC):c.2001A>C (p.Gly667=) rs769902280 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.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
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.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1162-4dup rs11300320
NM_000153.4(GALC):c.1376A>G (p.His459Arg) rs755193670
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala) rs886050864
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser) rs756141815
NM_000153.4(GALC):c.313G>A (p.Asp105Asn) rs1361755363
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.3G>T (p.Met1Ile) rs758685128
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.442+4A>G rs753169234
NM_000153.4(GALC):c.454T>C (p.Ser152Pro)
NM_000153.4(GALC):c.583-11T>C rs886050865
NM_000153.4(GALC):c.64G>C (p.Gly22Arg) rs768031195
NM_000153.4(GALC):c.752+8A>C rs750292340

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