ClinVar Miner

List of variants reported as pathogenic for Combined oxidative phosphorylation defect type 17 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_018127.7(ELAC2):c.2009del (p.Cys670fs) rs761385155 0.00006
NM_018127.6(ELAC2):c.1641dup (p.His548Alafs) rs387906327 0.00001
NM_018127.7(ELAC2):c.1214del (p.Cys405fs) rs1231150660 0.00001
NM_018127.7(ELAC2):c.1275C>A (p.Tyr425Ter) rs1308121771 0.00001
NM_018127.7(ELAC2):c.1435C>T (p.Gln479Ter) rs138114191 0.00001
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter) rs763770476 0.00001
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter) rs550032922 0.00001
NM_018127.7(ELAC2):c.1535dup (p.Leu513fs) rs1478938317 0.00001
NM_018127.7(ELAC2):c.1864G>T (p.Glu622Ter) rs761359247 0.00001
NM_018127.7(ELAC2):c.1888C>T (p.Arg630Ter) rs781680309 0.00001
NM_018127.7(ELAC2):c.2144del (p.Met715fs) rs1230021596 0.00001
NM_018127.7(ELAC2):c.2253+1G>C rs1276616440 0.00001
NM_018127.7(ELAC2):c.245+2T>A rs748684065 0.00001
NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter) rs767879725 0.00001
NC_000017.10:g.(?_12896135)_(12921264_?)del
NC_000017.10:g.(?_12920159)_(12920458_?)del
NM_018127.7(ELAC2):c.1062C>G (p.Tyr354Ter) rs2040937055
NM_018127.7(ELAC2):c.1066C>T (p.Gln356Ter) rs2040936942
NM_018127.7(ELAC2):c.1071G>A (p.Trp357Ter)
NM_018127.7(ELAC2):c.1093dup (p.Thr365fs)
NM_018127.7(ELAC2):c.1245del (p.Met416fs) rs2040857188
NM_018127.7(ELAC2):c.127C>T (p.Arg43Ter)
NM_018127.7(ELAC2):c.139G>T (p.Gly47Ter)
NM_018127.7(ELAC2):c.1423+1G>A
NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter) rs2040486497
NM_018127.7(ELAC2):c.1637_1638del (p.His546fs)
NM_018127.7(ELAC2):c.1706del (p.Leu569fs) rs2143562536
NM_018127.7(ELAC2):c.1727dup (p.Leu576fs) rs764570495
NM_018127.7(ELAC2):c.1802_1803insAACCA (p.His601fs)
NM_018127.7(ELAC2):c.2179C>T (p.Gln727Ter) rs946948334
NM_018127.7(ELAC2):c.225C>A (p.Tyr75Ter)
NM_018127.7(ELAC2):c.2278del (p.Met760fs)
NM_018127.7(ELAC2):c.273del (p.Gln92fs) rs748788377
NM_018127.7(ELAC2):c.286C>T (p.Gln96Ter) rs2508391449
NM_018127.7(ELAC2):c.297-2_297-1delinsT rs1060502161
NM_018127.7(ELAC2):c.299dup (p.Leu100fs) rs2508390123
NM_018127.7(ELAC2):c.30_36del (p.Ala11fs)
NM_018127.7(ELAC2):c.383T>A (p.Leu128Ter) rs1170011808
NM_018127.7(ELAC2):c.406dup (p.Cys136fs)
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) rs397515465
NM_018127.7(ELAC2):c.520G>T (p.Glu174Ter) rs374954001
NM_018127.7(ELAC2):c.526G>T (p.Glu176Ter)
NM_018127.7(ELAC2):c.52C>T (p.Gln18Ter) rs2508398433
NM_018127.7(ELAC2):c.700_713del (p.Val234fs)
NM_018127.7(ELAC2):c.766del (p.Val256fs) rs2041085400
NM_018127.7(ELAC2):c.77_89del (p.Pro26fs)
NM_018127.7(ELAC2):c.863_866del (p.Gly288fs) rs2508312089
NM_018127.7(ELAC2):c.865_866AG[2] (p.Glu290fs) rs2041065623

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