ClinVar Miner

List of variants in gene COG6 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_020751.3(COG6):c.1009+9A>G rs4129745 0.28442
NM_020751.3(COG6):c.1693-7_1693-6del rs1491507046 0.00273
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882
NM_020751.3(COG6):c.624-3dup rs397756552

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