ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial complex I deficiency

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_001377299.1(NDUFS2):c.875T>C (p.Met292Thr) rs150667550 0.00011
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951 0.00006
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) rs118203929 0.00002
NM_004551.3(NDUFS3):c.374G>A (p.Arg125His) rs138867882 0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 0.00001
NM_001270888.1(SLC25A10):c.[684C>T;790-37G>A]
NM_004548.3(NDUFB10):c.131-442G>C rs1475753965
NM_007103.4(NDUFV1):c.383G>A (p.Arg128Gln) rs778295360
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)
NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter) rs1555703272
NM_014049.5(ACAD9):c.1029+1dup rs2107657797
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys) rs368949613
NM_014049.5(ACAD9):c.151-1_151del rs766026673
NM_014049.5(ACAD9):c.1674_1692+34del rs2107664575
NM_014049.5(ACAD9):c.1805C>T (p.Ser602Phe)
NM_014049.5(ACAD9):c.634-1G>A
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
m.10191T>C rs267606890

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