ClinVar Miner

List of variants in gene SQOR reported as pathogenic for sulfide quinone oxidoreductase deficiency

Included ClinVar conditions (1):

Sulfide quinone oxidoreductase deficiency

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_021199.4(SQOR):c.446del (p.Leu149fs)	rs755490059	0.00001
NM_021199.4(SQOR):c.637G>A (p.Glu213Lys)	rs762256045

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