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

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Total variants: 12

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HGVS	dbSNP
NM_000155.4(GALT):c.1048del (p.Thr350fs)	rs775762045
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)	rs111033669
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)	rs111033670
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)	rs111033682
NM_000155.4(GALT):c.502G>T (p.Val168Leu)	rs367543258
NM_000155.4(GALT):c.688-1G>C
NM_000155.4(GALT):c.691C>G (p.Arg231Gly)
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)	rs111033766
NM_000155.4(GALT):c.815G>A (p.Arg272His)	rs111033831
NM_000155.4(GALT):c.957C>A (p.His319Gln)	rs111033792
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)	rs111033795

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