ClinVar Miner

List of variants in gene GALC reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000014.8:g.(?_88401056)_(88416295_?)del
NC_000014.8:g.(?_88416179)_(88416285_?)del
NM_000153.3(GALC):c.1161+1delG rs1555381417
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.443-2A>G
NM_000153.4(GALC):c.560A>T (p.Asp187Val)

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