ClinVar Miner

List of variants in gene combination LOC130010118, LOC130010119, LOC130010120, LOC130010121, NAXD reported as pathogenic for NAD(P)HX dehydratase deficiency

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Gene type:
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Total variants: 1
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HGVS dbSNP gnomAD frequency
NC_000013.11:g.110615008_110622534del

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