ClinVar Miner

List of variants in gene GALC reported by Mendelics

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Total variants: 7
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HGVS dbSNP
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.4(GALC):c.1690T>G (p.Cys564Gly) rs1595190129
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.65_74del (p.Gly22fs) rs1595246385
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) rs746922378
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855

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