ClinVar Miner

List of variants in gene GALC reported as benign

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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP
GRCh37/hg19 14q31.3(chr14:88382306-88419358)x1
GRCh37/hg19 14q31.3(chr14:88399247-88420282)x1
GRCh37/hg19 14q31.3(chr14:88399488-88422442)x1
NM_000153.3(GALC):c.*1186_*1188delGAT rs141199615
NM_000153.3(GALC):c.*1275G>A rs1042042
NM_000153.3(GALC):c.*1453A>G rs405567
NM_000153.3(GALC):c.*1588T>G rs17198
NM_000153.3(GALC):c.*590T>C rs1042029
NM_000153.3(GALC):c.*626C>T rs432946
NM_000153.3(GALC):c.*627A>G rs413750
NM_000153.3(GALC):c.*723G>A rs412915
NM_000153.3(GALC):c.*989G>A rs370559
NM_000153.3(GALC):c.1072C>T (p.Leu358=) rs74073730
NM_000153.3(GALC):c.1161+38T>C rs17687109
NM_000153.3(GALC):c.1162-4delT rs11300320
NM_000153.3(GALC):c.1236T>A (p.Val412=) rs112531377
NM_000153.3(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.3(GALC):c.1338+23T>C rs74076317
NM_000153.3(GALC):c.1350C>T (p.Ser450=) rs398076
NM_000153.3(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.3(GALC):c.1620G= (p.Thr540=) rs367327
NM_000153.3(GALC):c.1620G>A (p.Thr540=) rs367327
NM_000153.3(GALC):c.1671-15C>T rs12432149
NM_000153.3(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.3(GALC):c.1698A>T (p.Val566=) rs421466
NM_000153.3(GALC):c.1731C>T (p.Phe577=) rs201560122
NM_000153.3(GALC):c.1788C>T (p.Phe596=) rs115018138
NM_000153.3(GALC):c.1834+5C>G rs448805
NM_000153.3(GALC):c.1921A>G (p.Thr641Ala) rs421262
NM_000153.3(GALC):c.195+10A>G rs191767015
NM_000153.3(GALC):c.195+19G>A rs189853941
NM_000153.3(GALC):c.196-3del rs561184126
NM_000153.3(GALC):c.196-43C>T rs2289511
NM_000153.3(GALC):c.328+19T>A rs74337989
NM_000153.3(GALC):c.329-35G>A rs77466023
NM_000153.3(GALC):c.330C>T (p.Asp110=) rs11552556
NM_000153.3(GALC):c.397T>C (p.Leu133=) rs56194647
NM_000153.3(GALC):c.42G>C (p.Ala14=) rs112992946
NM_000153.3(GALC):c.550C>T (p.Arg184Cys) rs1805078
NM_000153.3(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000153.3(GALC):c.621+24T>C rs45568734
NM_000153.3(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.3(GALC):c.75C>A (p.Gly25=) rs111976362
NM_000153.3(GALC):c.913A>G (p.Ile305Val) rs74887188
NM_000153.3(GALC):c.96G>T (p.Leu32=) rs113719127
NM_000153.3(GALC):c.984G>A (p.Gln328=) rs12888666

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