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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)	rs111033773	0.00017
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715	0.00004
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)	rs111033800	0.00002
NM_000155.4(GALT):c.425T>A (p.Met142Lys)	rs111033695	0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)	rs111033736	0.00001
NM_000155.4(GALT):c.130G>A (p.Val44Met)	rs111033647
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)	rs111033663
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)	rs111033721
NM_000155.4(GALT):c.580T>C (p.Phe194Leu)	rs111033726
NM_000155.4(GALT):c.957C>A (p.His319Gln)	rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	rs111033800

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