ClinVar Miner

List of variants studied for Fanconi-Bickel syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NC_000003.12:g.171027026T>C rs5396 0.38870
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.23124
NM_000340.2(SLC2A2):c.496+8A>T rs5402 0.22868
NC_000003.12:g.171027131T>G rs5393 0.22748
NM_000340.2(SLC2A2):c.776-15C>T rs5406 0.21500
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404 0.15665
NC_000003.12:g.171027104G>A rs5394 0.15011
NM_000340.2(SLC2A2):c.1069-9T>C rs5407 0.01360
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=) rs5405 0.00373
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863 0.00345
NM_000340.2(SLC2A2):c.496+10A>T rs5403 0.00123
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.1164G>A (p.Val388=) rs140794946 0.00076
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664 0.00076
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) rs1800572 0.00061
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu) rs147959014 0.00052
NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val) rs140138702 0.00040
NM_000340.2(SLC2A2):c.963+14C>T rs189551647 0.00039
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401 0.00035
NM_000340.2(SLC2A2):c.216C>T (p.Tyr72=) rs139231189 0.00025
NM_000340.2(SLC2A2):c.588C>T (p.Ile196=) rs374624284 0.00021
NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=) rs5408 0.00018
NM_000340.2(SLC2A2):c.1251G>A (p.Pro417=) rs371657103 0.00010
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile) rs121909741 0.00009
NM_000340.2(SLC2A2):c.963+18C>T rs752640585 0.00009
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met) rs751917665 0.00009
NM_000340.2(SLC2A2):c.39T>C (p.Thr13=) rs375465762 0.00008
NM_000340.2(SLC2A2):c.1269G>T (p.Val423=) rs191885528 0.00007
NM_000340.2(SLC2A2):c.372-16C>T rs372176041 0.00007
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375 0.00007
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.852G>A (p.Ser284=) rs371899639 0.00004
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743 0.00004
NM_000340.2(SLC2A2):c.109-19A>G rs182772346 0.00003
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_000340.2(SLC2A2):c.162A>G (p.Lys54=) rs546539032 0.00002
NM_000340.2(SLC2A2):c.371+19T>C rs752870085 0.00002
NM_000340.2(SLC2A2):c.866T>G (p.Val289Gly) rs780873643 0.00002
NM_000340.2(SLC2A2):c.1069-10A>G rs1487335649 0.00001
NM_000340.2(SLC2A2):c.108+20G>A rs1212350320 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.1388C>A (p.Pro463His) rs1272353608 0.00001
NM_000340.2(SLC2A2):c.1463A>G (p.Lys488Arg) rs777806589 0.00001
NM_000340.2(SLC2A2):c.1560T>C (p.Ala520=) rs755934523 0.00001
NM_000340.2(SLC2A2):c.240T>C (p.Pro80=) rs756220231 0.00001
NM_000340.2(SLC2A2):c.495T>C (p.Cys165=) rs5401 0.00001
NM_000340.2(SLC2A2):c.499C>T (p.Leu167=) rs764767259 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000340.2(SLC2A2):c.951C>T (p.Ser317=) rs1168244945 0.00001
NM_000340.2(SLC2A2):c.963+1G>A rs371977235 0.00001
NC_000003.11:g.(?_168802697)_(172835521_?)dup
NC_000003.11:g.(?_170727727)_(170727891_?)del
NC_000003.11:g.(?_170732238)_(170732540_?)del
NM_000340.2(SLC2A2):c.100C>A (p.Pro34Thr)
NM_000340.2(SLC2A2):c.1014T>C (p.Pro338=)
NM_000340.2(SLC2A2):c.1068+15T>G
NM_000340.2(SLC2A2):c.1068+7C>T
NM_000340.2(SLC2A2):c.108+16A>G
NM_000340.2(SLC2A2):c.1118T>C (p.Met373Thr) rs1715228241
NM_000340.2(SLC2A2):c.1142T>A (p.Ile381Asn)
NM_000340.2(SLC2A2):c.114A>G (p.Ile38Met) rs2108257085
NM_000340.2(SLC2A2):c.1158A>T (p.Gly386=)
NM_000340.2(SLC2A2):c.1161T>C (p.Leu387=)
NM_000340.2(SLC2A2):c.1170+11T>C
NM_000340.2(SLC2A2):c.1170+18A>C
NM_000340.2(SLC2A2):c.1170+1G>T rs1294679246
NM_000340.2(SLC2A2):c.1171-7del
NM_000340.2(SLC2A2):c.1172A>G (p.Asn391Ser)
NM_000340.2(SLC2A2):c.1183del (p.Trp395fs)
NM_000340.2(SLC2A2):c.1191T>G (p.Ser397Arg) rs2108233305
NM_000340.2(SLC2A2):c.1194T>C (p.Tyr398=)
NM_000340.2(SLC2A2):c.1205T>C (p.Ile402Thr)
NM_000340.2(SLC2A2):c.1250C>A (p.Pro417Gln)
NM_000340.2(SLC2A2):c.1254C>T (p.Ile418=)
NM_000340.2(SLC2A2):c.1267G>T (p.Val423Leu)
NM_000340.2(SLC2A2):c.1275G>A (p.Glu425=)
NM_000340.2(SLC2A2):c.1280del (p.Phe427fs) rs1386374799
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.1329T>C (p.Asn443=)
NM_000340.2(SLC2A2):c.1349T>C (p.Val450Ala)
NM_000340.2(SLC2A2):c.134T>A (p.Val45Asp)
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter) rs1715182989
NM_000340.2(SLC2A2):c.1362C>T (p.Phe454=)
NM_000340.2(SLC2A2):c.1373C>T (p.Ala458Val)
NM_000340.2(SLC2A2):c.1373_1374+2dup rs2108232881
NM_000340.2(SLC2A2):c.1374+7A>G
NM_000340.2(SLC2A2):c.1375-11T>C
NM_000340.2(SLC2A2):c.1375-20T>G
NM_000340.2(SLC2A2):c.1392T>A (p.Tyr464Ter)
NM_000340.2(SLC2A2):c.1403T>G (p.Leu468Arg)
NM_000340.2(SLC2A2):c.1428T>C (p.Phe476=)
NM_000340.2(SLC2A2):c.1432C>T (p.Leu478=)
NM_000340.2(SLC2A2):c.1440A>G (p.Thr480=)
NM_000340.2(SLC2A2):c.1470G>A (p.Lys490=)
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.1506G>A (p.Lys502=)
NM_000340.2(SLC2A2):c.1549T>C (p.Phe517Leu) rs2108232309
NM_000340.2(SLC2A2):c.1550T>A (p.Phe517Tyr)
NM_000340.2(SLC2A2):c.1560T>A (p.Ala520=)
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs) rs1447936042
NM_000340.2(SLC2A2):c.16-12C>T
NM_000340.2(SLC2A2):c.16-20C>G
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.239del (p.Pro80fs) rs769888108
NM_000340.2(SLC2A2):c.267T>A (p.Ala89=)
NM_000340.2(SLC2A2):c.288C>A (p.Leu96=)
NM_000340.2(SLC2A2):c.30G>C (p.Leu10=)
NM_000340.2(SLC2A2):c.315A>G (p.Ala105=)
NM_000340.2(SLC2A2):c.355G>A (p.Gly119Arg)
NM_000340.2(SLC2A2):c.372-20del
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.457_462del (p.Leu153_Ile154del) rs763620441
NM_000340.2(SLC2A2):c.482C>T (p.Ser161Leu)
NM_000340.2(SLC2A2):c.492T>C (p.Tyr164=)
NM_000340.2(SLC2A2):c.496+6T>A
NM_000340.2(SLC2A2):c.496+7_496+8insCTCA rs746295534
NM_000340.2(SLC2A2):c.496+7_496+8insCTCACACA
NM_000340.2(SLC2A2):c.496+7_496+8insCTCACACACA rs746295534
NM_000340.2(SLC2A2):c.496+7_496+8insCTCACACACACACACACA
NM_000340.2(SLC2A2):c.497-2A>G rs1318756243
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr) rs1293130515
NM_000340.2(SLC2A2):c.529G>A (p.Gly177Ser)
NM_000340.2(SLC2A2):c.546C>T (p.Thr182=)
NM_000340.2(SLC2A2):c.559G>A (p.Ala187Thr) rs200213178
NM_000340.2(SLC2A2):c.576T>C (p.His192=)
NM_000340.2(SLC2A2):c.58G>T (p.Gly20Cys) rs2108262047
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>C (p.Thr198=)
NM_000340.2(SLC2A2):c.609T>C (p.Ser203=)
NM_000340.2(SLC2A2):c.612+7del
NM_000340.2(SLC2A2):c.613-7T>C
NM_000340.2(SLC2A2):c.621T>A (p.Gly207=)
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter) rs1114167428
NM_000340.2(SLC2A2):c.666_667del (p.Gly223fs)
NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter) rs773581866
NM_000340.2(SLC2A2):c.708_711del (p.Phe237fs) rs1560035336
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.748T>C (p.Leu250=)
NM_000340.2(SLC2A2):c.753T>C (p.Asp251=)
NM_000340.2(SLC2A2):c.762C>A (p.Val254=)
NM_000340.2(SLC2A2):c.775+19T>C
NM_000340.2(SLC2A2):c.776-8T>C
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.822T>C (p.Asn274=)
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.918G>A (p.Val306=)
NM_000340.2(SLC2A2):c.933T>C (p.His311=)
NM_000340.2(SLC2A2):c.963+20C>T
NM_000340.2(SLC2A2):c.964-15G>A
NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs) rs1560033414
NM_000340.2(SLC2A2):c.97G>A (p.Ala33Thr)
NM_000340.2(SLC2A2):c.996G>A (p.Thr332=)
NM_000340.2(SLC2A2):c.999T>C (p.Ala333=)

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