ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 5 by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys) rs149271416 0.00001
NM_005006.7(NDUFS1):c.1669C>T (p.Arg557Ter) rs372691318 0.00001
NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp) rs199422225 0.00001
NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly) rs199422224 0.00001
NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala) rs387907199
NM_005006.7(NDUFS1):c.1855G>A (p.Asp619Asn) rs397515447
NM_005006.7(NDUFS1):c.666_668del (p.Ile223del) rs397515383
NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val) rs199422226

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