ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 14 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
GRCh37/hg19 6p25.1(chr6:5545413-5545573)
NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser) rs1407198979
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg) rs1554169280

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