ClinVar Miner

List of variants in gene GALC reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000153.4(GALC):c.-318T>C rs556647825 0.00210
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_000153.4(GALC):c.-327G>T rs185943390 0.00120
NM_000153.4(GALC):c.1434G>A (p.Pro478=) rs200231860 0.00042
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_000153.2(GALC):c.-285G>A rs557653194 0.00016
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000153.4(GALC):c.60C>T (p.Ala20=) rs188488238 0.00013
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 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.1709C>A (p.Thr570Asn) rs540808138 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000153.4(GALC):c.639G>C (p.Leu213=) rs373343608 0.00004
NM_000153.4(GALC):c.1791C>T (p.Phe597=) rs1002946173 0.00003
NM_000153.4(GALC):c.1587G>A (p.Thr529=) rs184748969 0.00002
NM_000153.4(GALC):c.391T>C (p.Trp131Arg) rs746507078 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000153.4(GALC):c.1005C>T (p.Tyr335=) rs1319599087 0.00001
NM_000153.4(GALC):c.1572C>T (p.Gly524=) rs753164684 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.908C>T (p.Ser303Phe) rs756352952 0.00001
GRCh37/hg19 14q31.3(chr14:88401076-88417092)x1
NM_000153.2(GALC):c.-237G>A
NM_000153.4(GALC):c.1131A>G (p.Leu377=) rs2139991961
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1171_1175delinsA (p.His391fs) rs1885269233
NM_000153.4(GALC):c.1302C>G (p.Ser434=)
NM_000153.4(GALC):c.1698A>G (p.Val566=) rs421466
NM_000153.4(GALC):c.1758T>C (p.Gly586=) rs746189262
NM_000153.4(GALC):c.2003C>T (p.Thr668Ile)
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.718G>A (p.Asp240Asn) rs2140016138
NM_000153.4(GALC):c.789A>G (p.Ala263=) rs1886147283
NM_000153.4(GALC):c.943del (p.Glu315fs) rs1886008578
NM_000153.4(GALC):c.991T>C (p.Trp331Arg) rs2139996182

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