ClinVar Miner

List of variants studied for Mitochondrial complex II deficiency, nuclear type 1 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_003000.3(SDHB):c.143A>T (p.Asp48Val) rs202101384 0.00001
NM_001042631.3(SDHAF1):c.29A>C (p.Gln10Pro) rs1599670818

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