ClinVar Miner

List of variants reported as likely pathogenic for Encephalopathy due to defective mitochondrial and peroxisomal fission 1

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Total variants: 3
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HGVS dbSNP
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) rs879255685
NM_012062.5(DNM1L):c.1135G>A (p.Glu379Lys) rs1057518694
NM_012062.5(DNM1L):c.1337G>T (p.Cys446Phe) rs879253874

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