ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase by Baylor Genetics

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Total variants: 6
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HGVS dbSNP
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs) rs1587236467
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986

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