ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 5 by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.1393G>A (p.Val465Ile) rs777102927 0.00001
NM_005006.7(NDUFS1):c.551G>C (p.Arg184Thr) rs1458382625

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