ClinVar Miner

List of variants reported as uncertain significance for UDPglucose-4-epimerase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr)	rs542486536	0.00006
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln)	rs140878602	0.00005
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)	rs775072430	0.00002

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