List of variants reported as pathogenic for Mitochondrial complex I deficiency, nuclear type 1 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002495.4(NDUFS4):c.99-1G>A	rs376281345	0.00001
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer)	rs121908985
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)	rs104893898
NM_002495.4(NDUFS4):c.350+5G>A	rs1751865973
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter)	rs104893899
NM_002495.4(NDUFS4):c.462del (p.Lys154fs)	rs587776949
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)	rs1445075330

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