ClinVar Miner

List of variants studied for Sedoheptulokinase deficiency

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Total variants: 2
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NM_013276.3(SHPK):c.211G>T (p.Glu71Ter) rs748544120
NM_013276.3(SHPK):c.355C>T (p.Arg119Ter) rs144071313

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