ClinVar Miner

List of variants in gene GALC reported as pathogenic for not provided

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
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_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 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.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000153.4(GALC):c.1671-1G>A rs1182103005 0.00002
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) rs766007316 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.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys) rs757407613 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.205C>T (p.Arg69Ter) rs771111145 0.00001
NM_000153.4(GALC):c.379C>T (p.Arg127Ter) rs200532368 0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284 0.00001
NM_000153.4(GALC):c.622-1G>T rs1886499951 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 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
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(chr14:88399622-88422569)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_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.4(GALC):c.1034-2A>G
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs) rs1555381439
NM_000153.4(GALC):c.1107C>G (p.Ser369Arg) rs1885895082
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1161+2T>G rs398123175
NM_000153.4(GALC):c.1171_1175delinsA (p.His391fs) rs1885269233
NM_000153.4(GALC):c.1399dup (p.Thr467fs) rs1057518390
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.1665C>G (p.Tyr555Ter) rs1566972341
NM_000153.4(GALC):c.1736_1739del (p.Ala579fs) rs754668472
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.293dup (p.Leu98fs) rs757799254
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) rs745620101
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
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

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