ClinVar Miner

List of variants in gene GALC reported as pathogenic by GeneDx

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Total variants: 14
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HGVS dbSNP
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs) rs1555381439
NM_000153.4(GALC):c.1399dup (p.Thr467fs) rs1057518390
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.4(GALC):c.169G>A (p.Gly57Ser) rs11623
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.4(GALC):c.379C>T (p.Arg127Ter) rs200532368
NM_000153.4(GALC):c.430del (p.Ile144fs) rs775277935
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855

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