ClinVar Miner

List of variants studied for Optic atrophy 5; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)	rs863223953
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys)	rs1565548029
NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs)	rs1592631789

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