ClinVar Miner

List of variants in gene NDUFA6 studied for Mitochondrial complex 1 deficiency, nuclear type 33

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002490.6(NDUFA6):c.26C>T (p.Ala9Val) rs1801311 0.37980
NM_002490.6(NDUFA6):c.387A>C (p.Ter129Cys) rs552658891 0.00010
NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) rs1023075742 0.00002
NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) rs750830935
NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) rs758833609
NM_002490.6(NDUFA6):c.309del (p.Met104fs) rs763006208
NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) rs1569463838
NM_002490.6(NDUFA6):c.355del (p.Leu119fs) rs781099275

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