ClinVar Miner

List of variants in gene DNM1L studied for Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

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Total variants: 47
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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 0.15315
NM_012062.5(DNM1L):c.120A>C (p.Ser40=) rs10844308 0.14357
NM_012062.5(DNM1L):c.918A>G (p.Thr306=) rs10844318 0.14349
NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe) rs138133550 0.00073
NM_012062.5(DNM1L):c.2155-20T>A rs746842624 0.00003
NM_012062.5(DNM1L):c.1393G>A (p.Val465Ile) rs984565210 0.00002
NM_012062.5(DNM1L):c.571A>G (p.Met191Val) rs1409512648 0.00001
NM_012062.5(DNM1L):c.770G>C (p.Ser257Thr) rs1953763262 0.00001
NM_001278464.2(DNM1L):c.254del (p.Pro85fs) rs2540993380
NM_001278464.2(DNM1L):c.261dup (p.Trp88fs) rs879255686
NM_001278464.2(DNM1L):c.270C>G (p.Asn90Lys)
NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg) rs879255689
NM_012062.5(DNM1L):c.1049G>C (p.Gly350Ala) rs2541046070
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.1087G>A (p.Gly363Ser) rs1954520736
NM_012062.5(DNM1L):c.1108T>C (p.Phe370Leu) rs1592661973
NM_012062.5(DNM1L):c.1135G>A (p.Glu379Lys) rs1057518694
NM_012062.5(DNM1L):c.115A>C (p.Ser39Arg) rs1952694899
NM_012062.5(DNM1L):c.115A>G (p.Ser39Gly) rs1952694899
NM_012062.5(DNM1L):c.116G>A (p.Ser39Asn) rs2540980636
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.1247T>C (p.Leu416Pro) rs2541080714
NM_012062.5(DNM1L):c.1325T>A (p.Ile442Asn) rs2541081107
NM_012062.5(DNM1L):c.1337G>T (p.Cys446Phe) rs879253874
NM_012062.5(DNM1L):c.1571T>C (p.Leu524Ser) rs1031075173
NM_012062.5(DNM1L):c.1736A>G (p.Asp579Gly)
NM_012062.5(DNM1L):c.176C>A (p.Thr59Asn) rs2137302207
NM_012062.5(DNM1L):c.176C>T (p.Thr59Ile) rs2137302207
NM_012062.5(DNM1L):c.1822A>C (p.Lys608Gln) rs1592688400
NM_012062.5(DNM1L):c.1915C>T (p.Arg639Trp) rs1011225865
NM_012062.5(DNM1L):c.1916G>A (p.Arg639Gln) rs2541123686
NM_012062.5(DNM1L):c.2035A>C (p.Lys679Gln) rs2137611567
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys) rs1565548029
NM_012062.5(DNM1L):c.2161C>T (p.Gln721Ter) rs2541139199
NM_012062.5(DNM1L):c.25_28delinsCACT (p.Asn9_Lys10delinsHisTer) rs1555229978
NM_012062.5(DNM1L):c.344C>G (p.Thr115Arg) rs1952997134
NM_012062.5(DNM1L):c.346_347del (p.Glu116fs) rs879255687
NM_012062.5(DNM1L):c.428C>G (p.Thr143Arg) rs2541008031
NM_012062.5(DNM1L):c.456G>T (p.Lys152Asn) rs2541008096
NM_012062.5(DNM1L):c.505C>T (p.Leu169Phe) rs1953210856
NM_012062.5(DNM1L):c.729_733dup (p.Val245delinsGluTer)

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