ClinVar Miner

List of variants reported as uncertain significance for fatal multiple mitochondrial dysfunctions syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (11):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_001010867.4(IBA57):c.574G>A (p.Ala192Thr)	rs140163897	0.00034
NM_212552.3(BOLA3):c.296G>A (p.Arg99Gln)	rs202046520	0.00009

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