List of variants reported as pathogenic for Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001278464.2(DNM1L):c.261dup (p.Trp88fs)	rs879255686
NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg)	rs879255689
NM_012062.5(DNM1L):c.106A>G (p.Ser36Gly)	rs879255688
NM_012062.5(DNM1L):c.1084G>A (p.Gly362Ser)	rs886037861
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp)	rs879255685
NM_012062.5(DNM1L):c.115A>G (p.Ser39Gly)	rs1952694899
NM_012062.5(DNM1L):c.1184C>A (p.Ala395Asp)	rs121908531
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)	rs863223953
NM_012062.5(DNM1L):c.1227_1228del (p.Glu410fs)	rs2137523446
NM_012062.5(DNM1L):c.1228G>A (p.Glu410Lys)	rs1954544114
NM_012062.5(DNM1L):c.176C>A (p.Thr59Asn)	rs2137302207
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys)	rs1565548029
NM_012062.5(DNM1L):c.25_28delinsCACT (p.Asn9_Lys10delinsHisTer)	rs1555229978
NM_012062.5(DNM1L):c.346_347del (p.Glu116fs)	rs879255687

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