ClinVar Miner

List of variants in gene GALC reported as likely benign for Galactosylceramide beta-galactosidase deficiency

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Gene type:
ClinVar version:
Total variants: 18
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NM_000153.3(GALC):c.*1126G>A rs1042035
NM_000153.3(GALC):c.*395C>T rs3850376
NM_000153.3(GALC):c.*709A>C rs45572135
NM_000153.3(GALC):c.*801A>T rs114174103
NM_000153.3(GALC):c.1006G>A (p.Val336Met) rs185073540
NM_000153.3(GALC):c.1072C>T (p.Leu358=) rs74073730
NM_000153.3(GALC):c.120C>A (p.Gly40=) rs532800656
NM_000153.3(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.3(GALC):c.195+15G>A rs748140458
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.450A>T (p.Pro150=) rs886050866
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.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

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