ClinVar Miner

List of variants studied for UDPglucose-4-epimerase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 41
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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.-77+311C>T rs113324056 0.03995
NM_001008216.2(GALE):c.709+14C>G rs6692104 0.01759
NM_001008216.2(GALE):c.-77+241C>G rs566996145 0.00470
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796 0.00283
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860 0.00244
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521 0.00203
NM_001008216.2(GALE):c.529-12C>T rs369293480 0.00169
NM_001008216.2(GALE):c.873+13G>C rs760941 0.00124
NM_001008216.2(GALE):c.*195T>C rs78587342 0.00066
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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