List of variants reported as pathogenic for UDPglucose-4-epimerase deficiency by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)	rs28940884	0.00568
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)	rs28940885	0.00115
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser)	rs121908046	0.00001
NM_001008216.2(GALE):c.269G>A (p.Gly90Glu)	rs28940882
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly)	rs28940883
NM_001008216.2(GALE):c.548T>C (p.Leu183Pro)	rs121908045
NM_001008216.2(GALE):c.937C>A (p.Leu313Met)	rs3180383

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