ClinVar Miner

List of variants reported as pathogenic for Fanconi-Bickel syndrome by OMIM

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Total variants: 13
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HGVS dbSNP
NM_000340.2(SLC2A2):c.1051del (p.Val351fs)
NM_000340.2(SLC2A2):c.109-2A>G rs1576838294
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742
NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro) rs121909747
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.859C>T (p.Gln287Ter) rs121909746
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743
SLC2A2, 1-BP DEL
SLC2A2, 1-BP INS, 793C
SLC2A2, 1264G-A
SLC2A2, 469C-T

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