ClinVar Miner

List of variants studied for Fanconi-Bickel syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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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.157C>T (p.Arg53Ter) rs771477447 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000340.2(SLC2A2):c.474A>C (p.Arg158Ser)
NM_000340.2(SLC2A2):c.491_493del (p.Tyr164del)

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