ClinVar Miner

List of variants in gene GALC reported as pathogenic by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1161+2T>G rs398123175
NM_000153.4(GALC):c.1488_1489+2del rs1555379355
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter) rs1566972341
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.205C>T (p.Arg69Ter) rs771111145
NM_000153.4(GALC):c.430del (p.Ile144fs) rs775277935
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952

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