ClinVar Miner

List of variants in gene GALE reported as pathogenic for UDPglucose-4-epimerase deficiency

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00121
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_001008216.2(GALE):c.151_154del (p.Arg51fs)
NM_001008216.2(GALE):c.152_155del (p.Arg51fs)
NM_001008216.2(GALE):c.196dup (p.Asp66fs)
NM_001008216.2(GALE):c.1A>G (p.Met1Val)
NM_001008216.2(GALE):c.269G>A (p.Gly90Glu) rs28940882
NM_001008216.2(GALE):c.2T>C (p.Met1Thr)
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly) rs28940883
NM_001008216.2(GALE):c.3G>A (p.Met1Ile)
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001008216.2(GALE):c.517del (p.Gln173fs)
NM_001008216.2(GALE):c.534G>A (p.Trp178Ter)
NM_001008216.2(GALE):c.548T>C (p.Leu183Pro) rs121908045
NM_001008216.2(GALE):c.563_564del (p.Pro188fs)
NM_001008216.2(GALE):c.634_635del (p.Val212fs)
NM_001008216.2(GALE):c.655C>T (p.Arg219Ter)
NM_001008216.2(GALE):c.689_690del (p.Asp229_Tyr230insTer)
NM_001008216.2(GALE):c.695_696del (p.Thr232fs)
NM_001008216.2(GALE):c.700del (p.Asp234fs)
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001008216.2(GALE):c.773dup (p.Lys259fs)
NM_001008216.2(GALE):c.815del (p.Gly272fs)
NM_001008216.2(GALE):c.933del (p.Ser312fs)
NM_001008216.2(GALE):c.937C>A (p.Leu313Met) rs3180383

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