ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 24; Hearing loss, autosomal recessive 94

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024678.6(NARS2):c.206C>G (p.Ser69Cys) rs149009700 0.00016
NM_024678.6(NARS2):c.689+6A>G rs747028018 0.00002
NM_024678.6(NARS2):c.506T>A (p.Phe169Tyr) rs144653284 0.00001
GRCh37/hg19 11q14.1(chr11:78189174-78189989)x1
NM_024678.6(NARS2):c.252-2A>G

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