ClinVar Miner

List of variants reported as uncertain significance for Glucose-6-phosphate transport defect by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val) rs782475284 0.00005
NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu) rs1326123837
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe) rs538938823
NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu) rs1295327218

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