ClinVar Miner

List of variants reported as likely pathogenic for fatal multiple mitochondrial dysfunctions syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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_001002755.4(NFU1):c.545G>T (p.Arg182Leu)	rs1281276965
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg)	rs2104735490

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