ClinVar Miner

List of variants in gene GALT reported as pathogenic by Counsyl

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Gene type:
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Total variants: 10
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HGVS dbSNP
NM_000155.4(GALT):c.253-2A>G rs111033661
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.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728
NM_000155.4(GALT):c.616C>T (p.Gln206Ter) rs1554709366
NM_000155.4(GALT):c.747G>A (p.Trp249Ter) rs111033758
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.948G>A (p.Trp316Ter) rs111033791

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