List of variants studied for Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 by Genome-Nilou Lab

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_012062.5(DNM1L):c.1674+36T>A	rs4506737	0.40113
NM_012062.5(DNM1L):c.252G>A (p.Gly84=)	rs2272238	0.15635
NM_012062.5(DNM1L):c.*21G>C	rs1059422	0.15548
NM_012062.5(DNM1L):c.*22A>T	rs3200103	0.15544
NM_012062.5(DNM1L):c.120A>C (p.Ser40=)	rs10844308	0.14357
NM_012062.5(DNM1L):c.918A>G (p.Thr306=)	rs10844318	0.14349

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