ClinVar Miner

List of variants in gene NDUFS1 reported as likely benign for inborn mitochondrial metabolism disorder

Included ClinVar conditions (407):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670 0.05713
NM_005006.7(NDUFS1):c.*256C>T rs10198830 0.02838
NM_005006.7(NDUFS1):c.551+14C>A rs10206644 0.02838
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890 0.02835
NM_005006.7(NDUFS1):c.*158T>C rs3770989 0.02543
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) rs2230888 0.02420
NM_005006.7(NDUFS1):c.*399G>A rs77000728 0.01727
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892 0.01121
NM_005006.7(NDUFS1):c.*574T>G rs73065790 0.01005
NM_005006.7(NDUFS1):c.*341A>G rs150214409 0.00460
NM_005006.7(NDUFS1):c.*426T>G rs114402169 0.00369
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=) rs112026097 0.00369
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_005006.7(NDUFS1):c.1393-7T>A rs200409285 0.00018
NM_005006.7(NDUFS1):c.*53T>G rs116335919
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_005006.7(NDUFS1):c.154-13_154-9del rs568965659
NM_005006.7(NDUFS1):c.154-9del rs568965659

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