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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001002755.4(NFU1):c.303-2A>T	rs371546359	0.00009
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)	rs1281276965	0.00001
NC_000002.11:g.(?_69627476)_(69627690_?)dup
NM_001002755.4(NFU1):c.485-1G>C	rs1464338870
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg)	rs2104735490

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