ClinVar Miner

List of variants in gene COG6 reported as benign for Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.297+47C>T rs7330016 0.65748
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882

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