ClinVar Miner

List of variants in gene GALT reported as pathogenic by GeneDx

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Total variants: 12
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HGVS dbSNP
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.253-2A>G rs111033661
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666
NM_000155.4(GALT):c.329-2A>C rs111033667
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.4(GALT):c.899G>A (p.Trp300Ter) rs1064794295
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074

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