ClinVar Miner

List of variants reported as likely benign for UDPglucose-4-epimerase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001008216.2(GALE):c.-77+311C>T rs113324056 0.03995
NM_001008216.2(GALE):c.-77+241C>G rs566996145 0.00470
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796 0.00283
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860 0.00244
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521 0.00203
NM_001008216.2(GALE):c.873+13G>C rs760941 0.00124
NM_001008216.2(GALE):c.*195T>C rs78587342 0.00066

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