ClinVar Miner

List of variants studied for Fanconi-Bickel syndrome by 3billion, Medical Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744 0.00001
NM_000340.2(SLC2A2):c.*83A>T rs993283861
NM_000340.2(SLC2A2):c.351G>A (p.Trp117Ter) rs753980727
NM_000340.2(SLC2A2):c.482dup (p.Gly162fs)
NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu) rs121909741

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