List of variants reported as uncertain significance 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)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_001008216.2(GALE):c.529-12C>T	rs369293480	0.00169
NM_001008216.2(GALE):c.*178G>A	rs1803612	0.00058
NM_001008216.2(GALE):c.873+13_873+14insA	rs765063773	0.00050
NM_001008216.2(GALE):c.369G>A (p.Gly123=)	rs138148991	0.00029
NM_001008216.2(GALE):c.997C>A (p.Leu333Ile)	rs199614710	0.00029
NM_001008216.2(GALE):c.423C>T (p.Tyr141=)	rs138518245	0.00024
NM_001008216.2(GALE):c.447C>G (p.Pro149=)	rs571625657	0.00017
NM_001008216.2(GALE):c.376A>G (p.Asn126Asp)	rs771656737	0.00014
NM_001008216.2(GALE):c.*192T>C	rs576468712	0.00010
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr)	rs542486536	0.00010
NM_001008216.2(GALE):c.647C>T (p.Ala216Val)	rs542192037	0.00010
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln)	rs140878602	0.00005
NM_001008216.2(GALE):c.*69G>A	rs543116262	0.00004
NM_001008216.2(GALE):c.-77+340G>C	rs568182391	0.00004
NM_001008216.2(GALE):c.319G>A (p.Val107Ile)	rs770332379	0.00004
NM_001008216.2(GALE):c.874-9G>A	rs764448821	0.00004
NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys)	rs780393850	0.00003
NM_001008216.2(GALE):c.988+7G>A	rs200182186	0.00003
NM_001008216.2(GALE):c.-77+168T>G	rs924261949	0.00001
NM_001008216.2(GALE):c.192G>A (p.Glu64=)	rs748354696	0.00001
NM_001008216.2(GALE):c.238-6C>T	rs751079525	0.00001
NM_001008216.2(GALE):c.648G>A (p.Ala216=)	rs144723215	0.00001
NM_001008216.2(GALE):c.955G>C (p.Gly319Arg)	rs752384408	0.00001
NM_001008216.2(GALE):c.*12T>G	rs1638931716
NM_001008216.2(GALE):c.*158G>A	rs1343467826
NM_001008216.2(GALE):c.326_328dup	rs557214506
NM_001008216.2(GALE):c.*327A>T	rs535702110
NM_001008216.2(GALE):c.-77+205C>G	rs910285433
NM_001008216.2(GALE):c.330C>T (p.Thr110=)	rs377557637
NM_001008216.2(GALE):c.450G>A (p.Thr150=)	rs566884215
NM_001008216.2(GALE):c.989-13C>T	rs199622680

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