ClinVar Miner

List of variants reported as uncertain significance for Fanconi-Bickel syndrome

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ClinVar version:
Total variants: 105
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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.589G>A (p.Val197Ile) rs121909741 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.866T>G (p.Val289Gly) rs780873643 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.1069-10A>G rs1487335649 0.00001
NM_000340.2(SLC2A2):c.1097G>A (p.Arg366His) rs755000812 0.00001
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg) rs760200790 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.1388C>A (p.Pro463His) rs1272353608 0.00001
NM_000340.2(SLC2A2):c.1463A>G (p.Lys488Arg) rs777806589 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
NC_000003.11:g.(?_168802697)_(172835521_?)dup
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.100C>A (p.Pro34Thr)
NM_000340.2(SLC2A2):c.1118T>C (p.Met373Thr) rs1715228241
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del) rs772999215
NM_000340.2(SLC2A2):c.1142T>A (p.Ile381Asn)
NM_000340.2(SLC2A2):c.114A>G (p.Ile38Met) rs2108257085
NM_000340.2(SLC2A2):c.1172A>G (p.Asn391Ser)
NM_000340.2(SLC2A2):c.1191T>G (p.Ser397Arg) rs2108233305
NM_000340.2(SLC2A2):c.1205T>C (p.Ile402Thr)
NM_000340.2(SLC2A2):c.1250C>A (p.Pro417Gln)
NM_000340.2(SLC2A2):c.1267G>T (p.Val423Leu)
NM_000340.2(SLC2A2):c.1298C>T (p.Pro433Leu) rs2108233104
NM_000340.2(SLC2A2):c.130C>T (p.His44Tyr)
NM_000340.2(SLC2A2):c.1314_1316del (p.Ala440del)
NM_000340.2(SLC2A2):c.1349T>C (p.Val450Ala)
NM_000340.2(SLC2A2):c.134T>A (p.Val45Asp)
NM_000340.2(SLC2A2):c.1373C>T (p.Ala458Val)
NM_000340.2(SLC2A2):c.1373_1374+2dup rs2108232881
NM_000340.2(SLC2A2):c.1375-11T>C
NM_000340.2(SLC2A2):c.1375-20T>G
NM_000340.2(SLC2A2):c.1403T>G (p.Leu468Arg)
NM_000340.2(SLC2A2):c.1471T>A (p.Ser491Thr)
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys) rs1560031152
NM_000340.2(SLC2A2):c.1490C>T (p.Ala497Val)
NM_000340.2(SLC2A2):c.15+6G>A rs886058177
NM_000340.2(SLC2A2):c.1549T>C (p.Phe517Leu) rs2108232309
NM_000340.2(SLC2A2):c.1550T>A (p.Phe517Tyr)
NM_000340.2(SLC2A2):c.195T>A (p.Asp65Glu)
NM_000340.2(SLC2A2):c.20C>A (p.Thr7Asn)
NM_000340.2(SLC2A2):c.220A>G (p.Met74Val)
NM_000340.2(SLC2A2):c.226C>G (p.Pro76Ala)
NM_000340.2(SLC2A2):c.355G>A (p.Gly119Arg)
NM_000340.2(SLC2A2):c.372-4T>C rs769607196
NM_000340.2(SLC2A2):c.379G>T (p.Ala127Ser) rs1576833940
NM_000340.2(SLC2A2):c.409G>C (p.Val137Leu)
NM_000340.2(SLC2A2):c.415G>A (p.Ala139Thr)
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg) rs750836049
NM_000340.2(SLC2A2):c.482C>T (p.Ser161Leu)
NM_000340.2(SLC2A2):c.491_493del (p.Tyr164del)
NM_000340.2(SLC2A2):c.496+6T>A
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr) rs1293130515
NM_000340.2(SLC2A2):c.529G>A (p.Gly177Ser)
NM_000340.2(SLC2A2):c.559G>A (p.Ala187Thr) rs200213178
NM_000340.2(SLC2A2):c.58G>T (p.Gly20Cys) rs2108262047
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.733T>C (p.Tyr245His)
NM_000340.2(SLC2A2):c.739T>C (p.Tyr247His)
NM_000340.2(SLC2A2):c.73G>A (p.Gly25Arg)
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del) rs774721090
NM_000340.2(SLC2A2):c.80A>T (p.Asp27Val) rs2108262016
NM_000340.2(SLC2A2):c.833A>C (p.Lys278Thr)
NM_000340.2(SLC2A2):c.841G>A (p.Glu281Lys)
NM_000340.2(SLC2A2):c.872T>A (p.Ile291Lys)
NM_000340.2(SLC2A2):c.881T>A (p.Leu294His)
NM_000340.2(SLC2A2):c.898T>C (p.Tyr300His)
NM_000340.2(SLC2A2):c.902G>T (p.Arg301Leu)
NM_000340.2(SLC2A2):c.914T>C (p.Leu305Pro)
NM_000340.2(SLC2A2):c.97G>A (p.Ala33Thr)

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