ClinVar Miner

List of variants in gene NDUFS6 studied for Mitochondrial complex I deficiency, nuclear type 1

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004553.6(NDUFS6):c.310-15T>C rs10058270 0.10920
NM_004553.6(NDUFS6):c.*46C>T rs145407020 0.00336
NM_004553.6(NDUFS6):c.*15C>T rs200445799 0.00096
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=) rs140887831 0.00021
NM_004553.6(NDUFS6):c.*27A>G rs370587409 0.00014
NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp) rs376509886 0.00013
NM_004553.6(NDUFS6):c.*99G>C rs994577006 0.00012
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) rs755222875 0.00011
NM_004553.6(NDUFS6):c.155G>C (p.Arg52Thr) rs768060274 0.00006
NM_004553.6(NDUFS6):c.24C>T (p.Cys8=) rs886060511 0.00003
NM_004553.6(NDUFS6):c.27G>C (p.Arg9=) rs886060512 0.00001
NM_004553.6(NDUFS6):c.369C>T (p.His123=) rs745565855

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