ClinVar Miner

List of variants in gene GALE reported as pathogenic for UDPglucose-4-epimerase deficiency; Thrombocytopenia 13, syndromic

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001008216.2(GALE):c.280G>A (p.Val94Met)	rs121908047	0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)	rs137853860	0.00001

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