ClinVar Miner

List of variants in gene GALC reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 18
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HGVS dbSNP
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr) rs751975987
NM_000153.4(GALC):c.1472del (p.Lys491fs) rs771489305
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754
NM_000153.4(GALC):c.169G>A (p.Gly57Ser) rs11623
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) rs749708827
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145
NM_000153.4(GALC):c.379C>T (p.Arg127Ter) rs200532368
NM_000153.4(GALC):c.430del (p.Ile144fs) rs775277935
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.908+1G>A rs750524447
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855

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