ClinVar Miner

List of variants studied for mitochondrial complex deficiency by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691 0.00015
NM_001303.4(COX10):c.982G>A (p.Ala328Thr) rs777911169 0.00001
NM_017775.4(TTC19):c.766G>A (p.Ala256Thr) rs1042684635
NM_025152.3(NUBPL):c.349A>G (p.Met117Val) rs773620793

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