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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