List of variants reported as pathogenic for Mitochondrial complex 1 deficiency, nuclear type 17 by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro)	rs201088736	0.00004
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)	rs201732170	0.00003
NM_152416.4(NDUFAF6):c.420+784C>T	rs749738738	0.00002
NM_152416.4(NDUFAF6):c.226T>C (p.Ser76Pro)	rs1057519084	0.00001
NM_152416.4(NDUFAF6):c.206A>T (p.Asp69Val)	rs1057519085
NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg)	rs137853184
NM_152416.4(NDUFAF6):c.420+2_420+3insTA	rs1829405956
NM_152416.4(NDUFAF6):c.555_559del (p.Tyr187fs)	rs1179490149
NM_152416.4(NDUFAF6):c.805C>G (p.His269Asp)	rs768273248
NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly)	rs1057519086

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