ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 9 by Revvity Omics, Revvity

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004553.6(NDUFS6):c.53C>T (p.Ala18Val) rs138379386 0.00064
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp) rs863224110 0.00003
NM_004553.6(NDUFS6):c.223C>T (p.Gln75Ter) rs2477240345

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