ClinVar Miner

List of variants in gene GALC reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 13
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HGVS dbSNP
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) rs769851272
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.4(GALC):c.308G>T (p.Gly103Val) rs1567014169
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) rs768993170
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089
NM_000153.4(GALC):c.583-6T>A rs398123176
NM_000153.4(GALC):c.592G>A (p.Glu198Lys) rs909979938
NM_000153.4(GALC):c.909-10A>G rs398123178
NM_000153.4(GALC):c.973A>G (p.Met325Val) rs772190761

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