ClinVar Miner

List of variants reported as likely benign for Mitochondrial complex I deficiency by Illumina Laboratory Services, Illumina

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_002496.4(NDUFS8):c.*14C>T rs1051806 0.18509
NM_004544.4(NDUFA10):c.*1923_*1924insA rs138899326 0.11754
NM_021074.4(NDUFV2):c.*77C>G rs12454908 0.11308
NM_025152.3(NUBPL):c.*537dup rs200626091 0.09955
NM_000156.6(GAMT):c.*276C>T rs266810 0.07427
NM_000156.6(GAMT):c.*146A>C rs659455 0.07418
NM_000156.6(GAMT):c.*151T>C rs659460 0.07383
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_000156.6(GAMT):c.*311C>G rs266811 0.06572
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_014165.4(NDUFAF4):c.241-18dup rs34213186
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_174889.4(NDUFAF2):c.-91C>T rs4647036

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