List of variants reported as uncertain significance for Mitochondrial complex 1 deficiency, nuclear type 4

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp)	rs145602077	0.00031
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp)	rs372047256	0.00009
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met)	rs1127511	0.00008
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)	rs201727685	0.00005
NM_007103.4(NDUFV1):c.670C>T (p.Arg224Cys)	rs138583785	0.00004
NM_007103.4(NDUFV1):c.312G>T (p.Lys104Asn)	rs768399541	0.00002
NM_007103.4(NDUFV1):c.1087A>G (p.Ile363Val)	rs200270653	0.00001
NM_007103.4(NDUFV1):c.1288G>A (p.Gly430Arg)	rs776298670	0.00001
NM_007103.4(NDUFV1):c.349G>A (p.Ala117Thr)	rs757486575	0.00001
NM_007103.4(NDUFV1):c.283A>G (p.Thr95Ala)	rs147242476
NM_007103.4(NDUFV1):c.455G>A (p.Arg152His)
NM_007103.4(NDUFV1):c.499T>G (p.Ser167Ala)	rs773368756
NM_007103.4(NDUFV1):c.736G>A (p.Glu246Lys)
NM_007103.4(NDUFV1):c.853C>A (p.Pro285Thr)
NM_007103.4(NDUFV1):c.961G>A (p.Gly321Ser)
NM_007103.4(NDUFV1):c.995_1000del (p.Cys332_Thr334delinsSer)

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