List of variants in gene NDUFS8 reported as uncertain significance for Mitochondrial complex I deficiency, nuclear type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)	rs144125742	0.00475
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)	rs150278938	0.00205
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=)	rs149201273	0.00100
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)	rs142658611	0.00081
NM_002496.4(NDUFS8):c.*44C>T	rs201815115	0.00040
NM_002496.4(NDUFS8):c.200-14C>T	rs373128833	0.00038
NM_002496.4(NDUFS8):c.502-13C>T	rs199793417	0.00022
NM_002496.4(NDUFS8):c.502-10C>T	rs369961682	0.00007
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=)	rs1804688	0.00006
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr)	rs578145610	0.00006
NM_002496.4(NDUFS8):c.199+5G>A	rs373522607	0.00005
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His)	rs139334907	0.00005
NM_002496.4(NDUFS8):c.*26T>G	rs886048592	0.00001
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys)	rs764943259	0.00001
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)	rs748754134	0.00001
NM_002496.4(NDUFS8):c.501+12C>G	rs372004236	0.00001
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg)	rs1371377502	0.00001
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu)	rs746246241

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