ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 17 by Genome-Nilou Lab

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.1808+26G>C rs2286338 0.64789
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.1560A>G (p.Thr520=) rs11545302

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