ClinVar Miner

List of variants in gene GALC reported as uncertain significance by Invitae

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Total variants: 13
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HGVS dbSNP
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr) rs751975987
NM_000153.4(GALC):c.1453C>T (p.Pro485Ser)
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480
NM_000153.4(GALC):c.235C>T (p.Arg79Cys)
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931
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.383G>C (p.Gly128Ala)
NM_000153.4(GALC):c.752+3A>G rs1567000413
NM_000153.4(GALC):c.787G>A (p.Ala263Thr) rs1308816724
NM_000153.4(GALC):c.909-10A>G rs398123178
NM_000153.4(GALC):c.94C>A (p.Leu32Met)
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855

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