ClinVar Miner

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

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Total variants: 3
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HGVS dbSNP
NM_000153.4(GALC):c.1690T>G (p.Cys564Gly) rs1595190129
NM_000153.4(GALC):c.65_74del (p.Gly22fs) rs1595246385
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) rs746922378

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