ClinVar Miner

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.*486G>A	rs11714	0.91585
NM_001008216.2(GALE):c.873+13G>A	rs760941	0.65959
NM_001008216.2(GALE):c.709+14C>G	rs6692104	0.01759

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