List of variants reported as pathogenic for Multiple mitochondrial dysfunctions syndrome 1 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)	rs374514431	0.00012
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe)	rs201634470	0.00004
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)	rs1281276965	0.00001
NFU1, 55.6-KB DEL, EX4-8DEL
NM_001002755.4(NFU1):c.302+3A>G
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg)	rs2104735490
NM_001002755.4(NFU1):c.62G>C (p.Arg21Pro)

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