ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP
NM_000340.2(SLC2A2):c.1069-10A>G rs1487335649
NM_000340.2(SLC2A2):c.1118T>C (p.Met373Thr)
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg) rs760200790
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter)
NM_000340.2(SLC2A2):c.1388C>A (p.Pro463His)
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys) rs1560031152
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401
NM_000340.2(SLC2A2):c.379G>T (p.Ala127Ser) rs1576833940
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met) rs149460434
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del) rs774721090

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