ClinVar Miner

List of variants in gene NDUFS3 studied for Inborn genetic diseases

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004551.3(NDUFS3):c.406C>T (p.Arg136Cys) rs368446373 0.00023
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187 0.00006
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln) rs1555198759
NM_004551.3(NDUFS3):c.185G>T (p.Gly62Val) rs889228369
NM_004551.3(NDUFS3):c.252A>T (p.Leu84Phe)
NM_004551.3(NDUFS3):c.255G>C (p.Glu85Asp)
NM_004551.3(NDUFS3):c.269C>T (p.Pro90Leu) rs1555198835
NM_004551.3(NDUFS3):c.31T>C (p.Trp11Arg)
NM_004551.3(NDUFS3):c.364C>T (p.Arg122Trp)
NM_004551.3(NDUFS3):c.368A>C (p.Gln123Pro)
NM_004551.3(NDUFS3):c.3G>C (p.Met1Ile)
NM_004551.3(NDUFS3):c.496T>C (p.Tyr166His)
NM_004551.3(NDUFS3):c.49dup (p.Ala17fs)
NM_004551.3(NDUFS3):c.505G>A (p.Glu169Lys)
NM_004551.3(NDUFS3):c.580G>A (p.Glu194Lys)
NM_004551.3(NDUFS3):c.678G>C (p.Leu226Phe)
NM_004551.3(NDUFS3):c.692G>A (p.Arg231His)
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902

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