ClinVar Miner

List of variants in gene SLC2A2 reported as likely benign for Fanconi-Bickel syndrome

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Total variants: 84
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HGVS dbSNP gnomAD frequency
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.*486T>C rs566222124 0.00047
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401 0.00035
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.963+18C>T rs752640585 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.*1260A>G rs573454591 0.00006
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.109-19A>G rs182772346 0.00003
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.108+20G>A rs1212350320 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.499C>T (p.Leu167=) rs764767259 0.00001
NM_000340.2(SLC2A2):c.951C>T (p.Ser317=) rs1168244945 0.00001
NM_000340.2(SLC2A2):c.*1059del rs139372968
NM_000340.2(SLC2A2):c.*83A>T rs993283861
NM_000340.2(SLC2A2):c.*930_*934del rs140350942
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.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.1194T>C (p.Tyr398=)
NM_000340.2(SLC2A2):c.1254C>T (p.Ile418=)
NM_000340.2(SLC2A2):c.1275G>A (p.Glu425=)
NM_000340.2(SLC2A2):c.1329T>C (p.Asn443=)
NM_000340.2(SLC2A2):c.1362C>T (p.Phe454=)
NM_000340.2(SLC2A2):c.1374+7A>G
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.1506G>A (p.Lys502=)
NM_000340.2(SLC2A2):c.1560T>A (p.Ala520=)
NM_000340.2(SLC2A2):c.16-12C>T
NM_000340.2(SLC2A2):c.16-20C>G
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.372-20del
NM_000340.2(SLC2A2):c.372-4T>C rs769607196
NM_000340.2(SLC2A2):c.492T>C (p.Tyr164=)
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.546C>T (p.Thr182=)
NM_000340.2(SLC2A2):c.576T>C (p.His192=)
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.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.822T>C (p.Asn274=)
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.996G>A (p.Thr332=)
NM_000340.2(SLC2A2):c.999T>C (p.Ala333=)

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