ClinVar Miner

List of variants studied for Fanconi-Bickel syndrome

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ClinVar version:
Total variants: 117
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HGVS dbSNP
NC_000003.11:g.170744815T>C
NC_000003.11:g.170744893G>A
NC_000003.11:g.170744920T>G
NM_000340.1(SLC2A2):c.-238A>G rs551728717
NM_000340.2(SLC2A2):c.*1004G>A
NM_000340.2(SLC2A2):c.*1059del rs139372968
NM_000340.2(SLC2A2):c.*1086G>A rs185726034
NM_000340.2(SLC2A2):c.*1164T>C rs886058171
NM_000340.2(SLC2A2):c.*11C>G rs761913998
NM_000340.2(SLC2A2):c.*1201T>C
NM_000340.2(SLC2A2):c.*1207G>A
NM_000340.2(SLC2A2):c.*1222T>A rs55989805
NM_000340.2(SLC2A2):c.*1257C>T rs55679742
NM_000340.2(SLC2A2):c.*1260A>G rs573454591
NM_000340.2(SLC2A2):c.*1303T>C
NM_000340.2(SLC2A2):c.*1349C>T
NM_000340.2(SLC2A2):c.*1420T>C
NM_000340.2(SLC2A2):c.*1531A>G
NM_000340.2(SLC2A2):c.*153A>G rs530625053
NM_000340.2(SLC2A2):c.*166G>A
NM_000340.2(SLC2A2):c.*170G>A
NM_000340.2(SLC2A2):c.*234C>A rs79424762
NM_000340.2(SLC2A2):c.*254T>G
NM_000340.2(SLC2A2):c.*325T>A
NM_000340.2(SLC2A2):c.*325del rs886058174
NM_000340.2(SLC2A2):c.*356A>T rs7610064
NM_000340.2(SLC2A2):c.*474A>G rs114710971
NM_000340.2(SLC2A2):c.*476T>C rs75975646
NM_000340.2(SLC2A2):c.*486T>C rs566222124
NM_000340.2(SLC2A2):c.*568A>T rs886058173
NM_000340.2(SLC2A2):c.*607del rs563605045
NM_000340.2(SLC2A2):c.*698T>A
NM_000340.2(SLC2A2):c.*725G>C rs79770697
NM_000340.2(SLC2A2):c.*726T>C rs886058172
NM_000340.2(SLC2A2):c.*796T>C rs140738490
NM_000340.2(SLC2A2):c.*7_*8dup (p.Ter525=) rs573575421
NM_000340.2(SLC2A2):c.*83A>T
NM_000340.2(SLC2A2):c.*8del (p.Ter525=) rs573575421
NM_000340.2(SLC2A2):c.*909C>T rs77733690
NM_000340.2(SLC2A2):c.*920A>C
NM_000340.2(SLC2A2):c.*930_*934del rs140350942
NM_000340.2(SLC2A2):c.*94del rs886058175
NM_000340.2(SLC2A2):c.*960T>G
NM_000340.2(SLC2A2):c.-48G>A rs372965718
NM_000340.2(SLC2A2):c.1039G>A (p.Ala347Thr) rs776435170
NM_000340.2(SLC2A2):c.1043dup (p.Asn349fs) rs1553785722
NM_000340.2(SLC2A2):c.1051del (p.Val351fs)
NM_000340.2(SLC2A2):c.1069-10A>G rs1487335649
NM_000340.2(SLC2A2):c.1069-9T>C rs5407
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) rs76362149
NM_000340.2(SLC2A2):c.109-2A>G rs1576838294
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742
NM_000340.2(SLC2A2):c.1118T>C (p.Met373Thr)
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del) rs772999215
NM_000340.2(SLC2A2):c.1164G>A (p.Val388=) rs140794946
NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro) rs121909747
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg) rs760200790
NM_000340.2(SLC2A2):c.1221T>C (p.Phe407=) rs775605288
NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser) rs1553785033
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744
NM_000340.2(SLC2A2):c.1259G>A (p.Trp420Ter) rs121909745
NM_000340.2(SLC2A2):c.1268T>A (p.Val423Glu) rs28928874
NM_000340.2(SLC2A2):c.1269G>T (p.Val423=)
NM_000340.2(SLC2A2):c.1295G>A (p.Arg432His) rs75144723
NM_000340.2(SLC2A2):c.1358_1359del (p.Cys453fs) rs1553784980
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter)
NM_000340.2(SLC2A2):c.1388C>A (p.Pro463His)
NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val) rs140138702
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys) rs1560031152
NM_000340.2(SLC2A2):c.15+6G>A rs886058177
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu) rs147959014
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664
NM_000340.2(SLC2A2):c.162A>G (p.Lys54=) rs546539032
NM_000340.2(SLC2A2):c.188G>C (p.Ser63Thr)
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863
NM_000340.2(SLC2A2):c.206C>A (p.Thr69Lys) rs779977931
NM_000340.2(SLC2A2):c.239del (p.Pro80fs) rs769888108
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) rs1800572
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400
NM_000340.2(SLC2A2):c.372-4T>C
NM_000340.2(SLC2A2):c.379G>T (p.Ala127Ser) rs1576833940
NM_000340.2(SLC2A2):c.39T>C (p.Thr13=)
NM_000340.2(SLC2A2):c.495T>C (p.Cys165=)
NM_000340.2(SLC2A2):c.496+10A>T rs5403
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375
NM_000340.2(SLC2A2):c.496+7_496+8insCTCA rs746295534
NM_000340.2(SLC2A2):c.496+8A>T rs5402
NM_000340.2(SLC2A2):c.497-2A>G
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr)
NM_000340.2(SLC2A2):c.580C>G (p.Leu194Val) rs779065938
NM_000340.2(SLC2A2):c.593C>A (p.Thr198Lys) rs149460434
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met) rs149460434
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404
NM_000340.2(SLC2A2):c.612+10C>A rs762632420
NM_000340.2(SLC2A2):c.613-1G>C rs1553786361
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter) rs1114167428
NM_000340.2(SLC2A2):c.639C>T (p.Gly213=) rs886058176
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=) rs5405
NM_000340.2(SLC2A2):c.708_711del (p.Phe237fs) rs1560035336
NM_000340.2(SLC2A2):c.775+1G>A rs756874949
NM_000340.2(SLC2A2):c.776-15C>T rs5406
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del) rs774721090
NM_000340.2(SLC2A2):c.852G>A (p.Ser284=) rs371899639
NM_000340.2(SLC2A2):c.859C>T (p.Gln287Ter) rs121909746
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743
NM_000340.2(SLC2A2):c.951C>T (p.Ser317=)
NM_000340.2(SLC2A2):c.963+1G>A rs371977235
NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs) rs1560033414
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met)
SLC2A2, 1-BP DEL
SLC2A2, 1-BP INS, 793C
SLC2A2, 1264G-A
SLC2A2, 469C-T

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