ClinVar Miner

List of variants reported as uncertain significance for Fanconi-Bickel syndrome by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000340.2(SLC2A2):c.*796T>C rs140738490 0.00392
NM_000340.2(SLC2A2):c.*1420T>C rs182503337 0.00121
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) rs76362149 0.00114
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397 0.00083
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664 0.00076
NM_000340.2(SLC2A2):c.*1207G>A rs28579899 0.00074
NM_000340.2(SLC2A2):c.*153A>G rs530625053 0.00036
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401 0.00035
NM_000340.2(SLC2A2):c.-48G>A rs372965718 0.00021
NM_000340.2(SLC2A2):c.*170G>A rs528459194 0.00009
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met) rs751917665 0.00009
NM_000340.2(SLC2A2):c.*960T>G rs971689457 0.00008
NM_000340.2(SLC2A2):c.*726T>C rs886058172 0.00005
NM_000340.2(SLC2A2):c.*1303T>C rs866750823 0.00004
NM_000340.2(SLC2A2):c.1039G>A (p.Ala347Thr) rs776435170 0.00004
NM_000340.2(SLC2A2):c.206C>A (p.Thr69Lys) rs779977931 0.00004
NM_000340.2(SLC2A2):c.612+10C>A rs762632420 0.00004
NM_000340.2(SLC2A2):c.*1004G>A rs1472003372 0.00002
NM_000340.2(SLC2A2):c.*1086G>A rs185726034 0.00001
NM_000340.2(SLC2A2):c.*11C>G rs761913998 0.00001
NM_000340.2(SLC2A2):c.*166G>A rs1232606277 0.00001
NM_000340.2(SLC2A2):c.*568A>T rs886058173 0.00001
NM_000340.2(SLC2A2):c.1221T>C (p.Phe407=) rs775605288 0.00001
NM_000340.2(SLC2A2):c.1295G>A (p.Arg432His) rs75144723 0.00001
NM_000340.2(SLC2A2):c.188G>C (p.Ser63Thr) rs1373290524 0.00001
NM_000340.2(SLC2A2):c.495T>C (p.Cys165=) rs5401 0.00001
NM_000340.2(SLC2A2):c.580C>G (p.Leu194Val) rs779065938 0.00001
NM_000340.1(SLC2A2):c.-238A>G rs551728717
NM_000340.2(SLC2A2):c.*1164T>C rs886058171
NM_000340.2(SLC2A2):c.*1201T>C rs1219326448
NM_000340.2(SLC2A2):c.*1531A>G rs958370410
NM_000340.2(SLC2A2):c.*254T>G rs910326054
NM_000340.2(SLC2A2):c.*325del rs886058174
NM_000340.2(SLC2A2):c.*607del rs563605045
NM_000340.2(SLC2A2):c.*698T>A rs1715118520
NM_000340.2(SLC2A2):c.*7_*8dup (p.Ter525=) rs573575421
NM_000340.2(SLC2A2):c.*83A>T rs993283861
NM_000340.2(SLC2A2):c.*8del (p.Ter525=) rs573575421
NM_000340.2(SLC2A2):c.*94del rs886058175
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del) rs772999215
NM_000340.2(SLC2A2):c.15+6G>A rs886058177
NM_000340.2(SLC2A2):c.372-4T>C rs769607196
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr) rs1293130515
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met) rs149460434
NM_000340.2(SLC2A2):c.639C>T (p.Gly213=) rs886058176
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del) rs774721090

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