ClinVar Miner

List of variants studied for Fanconi-Bickel syndrome by Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_000340.2(SLC2A2):c.952G>A (p.Gly318Arg) rs780067980 0.00001
NM_000340.2(SLC2A2):c.144del (p.Pro49fs) rs2108256953
NM_000340.2(SLC2A2):c.2T>G (p.Met1Arg) rs1716716102
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg) rs750836049
NM_000340.2(SLC2A2):c.613-7T>G rs2108244550

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