ClinVar Miner

List of variants in gene GALT reported as likely pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 9
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NM_000155.4(GALT):c.290A>T (p.Asn97Ile) rs111033669
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.556C>A (p.His186Asn) rs111033725
NM_000155.4(GALT):c.593T>C (p.Ile198Thr) rs1483461355
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765

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