ClinVar Miner

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

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Total variants: 17
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NM_000340.2(SLC2A2):c.*1059del rs139372968
NM_000340.2(SLC2A2):c.*1260A>G rs573454591
NM_000340.2(SLC2A2):c.*486T>C rs566222124
NM_000340.2(SLC2A2):c.*930_*934del rs140350942
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) rs76362149
NM_000340.2(SLC2A2):c.1164G>A (p.Val388=) rs140794946
NM_000340.2(SLC2A2):c.1269G>T (p.Val423=)
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397
NM_000340.2(SLC2A2):c.162A>G (p.Lys54=) rs546539032
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863
NM_000340.2(SLC2A2):c.39T>C (p.Thr13=)
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.593C>A (p.Thr198Lys) rs149460434
NM_000340.2(SLC2A2):c.852G>A (p.Ser284=) rs371899639
NM_000340.2(SLC2A2):c.951C>T (p.Ser317=)

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