ClinVar Miner

List of variants in gene GALT reported as pathogenic by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 22
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HGVS dbSNP
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.3(GALT):c.199C>T (p.Arg67Cys) rs111033658
NM_000155.3(GALT):c.253-2A>G rs111033661
NM_000155.3(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.3(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.3(GALT):c.329-2A>C rs111033667
NM_000155.3(GALT):c.377+53_1059+87del
NM_000155.3(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.3(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.3(GALT):c.442C>T (p.Arg148Trp) rs111033693
NM_000155.3(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.3(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.3(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.3(GALT):c.584T>C (p.Leu195Pro) rs111033728
NM_000155.3(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.3(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.3(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.3(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.3(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.3(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_001258332.1(GALT):c.197G>A (p.Gly66Asp) rs111033718

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