ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP
NM_000153.4(GALC):c.*1126G>A rs1042035
NM_000153.4(GALC):c.*1186_*1188del rs141199615
NM_000153.4(GALC):c.*1275G>A rs1042042
NM_000153.4(GALC):c.*1451C>A rs138919458
NM_000153.4(GALC):c.*1453A>G rs405567
NM_000153.4(GALC):c.*1458T>C rs757918900
NM_000153.4(GALC):c.*1588T>G rs17198
NM_000153.4(GALC):c.*395C>T rs3850376
NM_000153.4(GALC):c.*590T>C rs1042029
NM_000153.4(GALC):c.*591G>A rs886050863
NM_000153.4(GALC):c.*626C>T rs432946
NM_000153.4(GALC):c.*627A>G rs413750
NM_000153.4(GALC):c.*709A>C rs45572135
NM_000153.4(GALC):c.*723G>A rs412915
NM_000153.4(GALC):c.*801A>T rs114174103
NM_000153.4(GALC):c.*989G>A rs370559
NM_000153.4(GALC):c.-17G>A rs886050868
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730
NM_000153.4(GALC):c.1162-14dup rs11300320
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076
NM_000153.4(GALC):c.1376A>G (p.His459Arg) rs755193670
NM_000153.4(GALC):c.1418G>A (p.Arg473His) rs374868151
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala) rs886050864
NM_000153.4(GALC):c.1671-15C>T rs12432149
NM_000153.4(GALC):c.1671-1G>A rs1182103005
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122
NM_000153.4(GALC):c.1834+5C>G rs448805
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262
NM_000153.4(GALC):c.195+15G>A rs748140458
NM_000153.4(GALC):c.2001A>C (p.Gly667=) rs769902280
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser) rs756141815
NM_000153.4(GALC):c.28T>C (p.Trp10Arg) rs767913083
NM_000153.4(GALC):c.318G>A (p.Gly106=) rs886050867
NM_000153.4(GALC):c.328+6A>G rs201977747
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866
NM_000153.4(GALC):c.53C>T (p.Thr18Ile) rs755139799
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078
NM_000153.4(GALC):c.583-11T>C rs886050865
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137
NM_001201401.1(GALC):c.-21C>T rs768255795
NM_001201401.1(GALC):c.-29del rs886050869
NM_001201401.1(GALC):c.-67T>G rs571945132
NM_001201401.1(GALC):c.-68C>T rs369469562
NM_001201401.1(GALC):c.-85T>A rs886050870

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