ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 5 by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.1134-32G>T rs4147718 0.43879
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566

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