ClinVar Miner

List of variants studied for Glucose-6-phosphate transport defect by Genome-Nilou Lab

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=) rs8192696 0.24916
NM_001164277.2(SLC37A4):c.626+19C>T rs741811 0.11102
NM_001164277.2(SLC37A4):c.626+14C>T rs56394886 0.01293
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 0.01045
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
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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