ClinVar Miner

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

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00568
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00115
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
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.534G>A (p.Trp178Ter) rs1638984968 0.00001
NM_001008216.2(GALE):c.655C>T (p.Arg219Ter) rs758716088 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NC_000001.10:g.(?_24122439)_(24144093_?)del
NC_000001.10:g.(?_24125085)_(24151905_?)del
NM_001008216.2(GALE):c.151_154del (p.Arg51fs) rs780861587
NM_001008216.2(GALE):c.152_155del (p.Arg51fs) rs2521320879
NM_001008216.2(GALE):c.196dup (p.Asp66fs) rs1639038679
NM_001008216.2(GALE):c.1A>G (p.Met1Val) rs2521326203
NM_001008216.2(GALE):c.264del (p.Phe88fs)
NM_001008216.2(GALE):c.269G>A (p.Gly90Glu) rs28940882
NM_001008216.2(GALE):c.2T>C (p.Met1Thr) rs1268440347
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly) rs28940883
NM_001008216.2(GALE):c.370del (p.Gly123_Val124insTer)
NM_001008216.2(GALE):c.3G>A (p.Met1Ile) rs2521326158
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001008216.2(GALE):c.517del (p.Gln173fs) rs1557479812
NM_001008216.2(GALE):c.548T>C (p.Leu183Pro) rs121908045
NM_001008216.2(GALE):c.563_564del (p.Pro188fs) rs2521294004
NM_001008216.2(GALE):c.634_635del (p.Val212fs) rs1638981096
NM_001008216.2(GALE):c.689_690del (p.Asp229_Tyr230insTer) rs2521288727
NM_001008216.2(GALE):c.695_696del (p.Thr232fs) rs1638974195
NM_001008216.2(GALE):c.700del (p.Asp234fs) rs2521288550
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001008216.2(GALE):c.773dup (p.Lys259fs) rs2521285775
NM_001008216.2(GALE):c.815del (p.Gly272fs) rs1351636899
NM_001008216.2(GALE):c.933del (p.Ser312fs) rs2521274472
NM_001008216.2(GALE):c.937C>A (p.Leu313Met) rs3180383

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