List of variants in gene NDUFS1 reported as uncertain significance for Mitochondrial complex I deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser)	rs75666426	0.00016
NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly)	rs1127567	0.00001
NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr)	rs765677840	0.00001
NM_005006.7(NDUFS1):c.*846dup	rs58253838
NM_005006.7(NDUFS1):c.*93dup	rs200446477
NM_005006.7(NDUFS1):c.1393-7del	rs760292289
NM_005006.7(NDUFS1):c.154-10_154-9del	rs568965659
NM_005006.7(NDUFS1):c.262-15del	rs34184317
NM_005006.7(NDUFS1):c.262-15dup	rs34184317

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