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

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_018127.7(ELAC2):c.1305-8T>C	rs3760316	0.32355
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)	rs4792311	0.27559
NM_018127.7(ELAC2):c.1218+15C>T	rs55825263	0.26965
NM_018127.7(ELAC2):c.297-11T>C	rs58809197	0.26927
NM_018127.7(ELAC2):c.1304+17A>T	rs55674356	0.26625
NM_018127.7(ELAC2):c.1893A>G (p.Thr631=)	rs17552022	0.08581
NM_018127.7(ELAC2):c.491-14T>C	rs74556312	0.08556
NM_018127.7(ELAC2):c.798-20G>T	rs77528900	0.03735
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)	rs5030739	0.02910
NM_018127.7(ELAC2):c.2130C>T (p.Ser710=)	rs7217826	0.02093
NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=)	rs77972324	0.01337
NM_018127.7(ELAC2):c.1479G>C (p.Pro493=)	rs140335642	0.00771
NM_018127.7(ELAC2):c.368-4T>A	rs139778647	0.00657
NM_018127.7(ELAC2):c.1305-9_1305-8insCTC	rs370493014	0.00515
NM_018127.7(ELAC2):c.560-2A>G	rs149733287	0.00275
NM_018127.7(ELAC2):c.174G>A (p.Val58=)	rs2286334	0.00256
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val)	rs119484087	0.00156
NM_018127.7(ELAC2):c.2108+14G>A	rs199942266	0.00092
NM_018127.7(ELAC2):c.1692C>T (p.Arg564=)	rs117582762	0.00049
NM_018127.7(ELAC2):c.95C>G (p.Pro32Arg)	rs544551424	0.00047
NM_018127.7(ELAC2):c.9G>C (p.Ala3=)	rs764509473	0.00033
NM_018127.7(ELAC2):c.1424-16A>G	rs149112672	0.00004
NM_018127.7(ELAC2):c.1468T>G (p.Ser490Ala)	rs149210630	0.00003
NM_018127.7(ELAC2):c.679+9A>G	rs756430924	0.00003
NM_018127.7(ELAC2):c.1305-6dup	rs200410915
NM_018127.7(ELAC2):c.1305-8_1305-7insTCTC	rs201830045
NM_018127.7(ELAC2):c.1424-6del	rs2040589080
NM_018127.7(ELAC2):c.1424-6dup	rs2040589080
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=)	rs11545302
NM_018127.7(ELAC2):c.1699-8dup	rs878855049
NM_018127.7(ELAC2):c.1809-5del	rs1288007671
NM_018127.7(ELAC2):c.1908+8del
NM_018127.7(ELAC2):c.797+14del	rs748817791

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