ClinVar Miner

List of variants studied for UDPglucose-4-epimerase deficiency by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001008216.2(GALE):c.1000T>C (p.Trp334Arg) rs2521269432

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