ClinVar Miner

List of variants reported as pathogenic for Multiple mitochondrial dysfunctions syndrome 1 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp)	rs1354126704	0.00001
NM_001002755.4(NFU1):c.545+5G>A	rs756085990	0.00001

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