ClinVar Miner

List of variants in gene GALC reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 11
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HGVS dbSNP
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.4(GALC):c.328+6A>G rs201977747
NM_000153.4(GALC):c.332G>A (p.Gly111Asp)
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.428A>G (p.Asn143Ser) rs753623482
NM_000153.4(GALC):c.49A>G (p.Met17Val) rs376662045
NM_000153.4(GALC):c.53C>T (p.Thr18Ile) rs755139799
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855

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