ClinVar Miner

List of variants in gene combination DOK7, LOC129992118 reported as benign for Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_173660.5(DOK7):c.765C>A (p.Gly255=) rs138215484 0.00016
NM_173660.5(DOK7):c.772+13dup

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