List of variants in gene NDUFA2, TMCO6 studied 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
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002488.4(NDUFA2):c.-136A>G	rs778594	0.38702
NM_002488.4(NDUFA2):c.-48A>G	rs778593	0.38666
NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val)	rs35672074	0.00154
NM_002488.4(NDUFA2):c.-50G>A	rs143857164	0.00135
NM_002488.4(NDUFA2):c.-63G>A	rs748460855	0.00020
NM_002488.4(NDUFA2):c.-114T>A	rs760264090	0.00009
NM_002488.5(NDUFA2):c.191A>G (p.Lys64Arg)	rs79526416	0.00004
NM_002488.4(NDUFA2):c.-53A>G	rs747127939	0.00003
NM_002488.5(NDUFA2):c.177C>T (p.Ser59=)	rs200255683	0.00002
NM_002488.4(NDUFA2):c.-145T>A	rs886060017	0.00001
NM_002488.4(NDUFA2):c.-51C>A	rs886060016
NM_002488.5(NDUFA2):c.135G>A (p.Lys45=)	rs745399748
NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val)	rs1255776529

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