ClinVar Miner

List of variants in gene combination LOC130064279, SDHAF1 reported as pathogenic for mitochondrial complex 2 deficiency, nuclear type 2

Included ClinVar conditions (1):

Mitochondrial complex 2 deficiency, nuclear type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter)	rs1397859218	0.00001
NM_001042631.3(SDHAF1):c.22C>T (p.Gln8Ter)	rs1085307492

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