ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 17 by Revvity Omics, Revvity

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Total variants: 6
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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.347C>T (p.Ser116Phe) rs140665334 0.00023
NM_018127.7(ELAC2):c.2023C>T (p.Arg675Trp) rs1157458251 0.00001
NM_018127.7(ELAC2):c.245+2T>A rs748684065 0.00001
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) rs397515465
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter) rs1359575116

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