List of variants in gene NDUFA9 studied for Mitochondrial complex 1 deficiency, nuclear type 26

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_005002.5(NDUFA9):c.552+11A>C	rs7972657	0.72251
NM_005002.5(NDUFA9):c.553-17G>A	rs2267549	0.38648
NM_005002.5(NDUFA9):c.942A>G (p.Ile314Met)	rs139674448	0.00225
NM_005002.5(NDUFA9):c.897-115A>G	rs185994125	0.00193
NM_005002.5(NDUFA9):c.655+5G>A	rs768333416	0.00006
NM_005002.5(NDUFA9):c.223C>T (p.Arg75Cys)	rs767462328	0.00003
NM_005002.5(NDUFA9):c.728T>C (p.Val243Ala)	rs202214518	0.00002
NM_005002.5(NDUFA9):c.1061G>A (p.Arg354Gln)	rs764064779	0.00001
NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys)	rs3210083	0.00001
NM_005002.5(NDUFA9):c.158G>C (p.Gly53Ala)
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu)	rs35263902
NM_005002.5(NDUFA9):c.251A>C (p.Tyr84Ser)	rs1565564733
NM_005002.5(NDUFA9):c.50G>T (p.Arg17Leu)
NM_005002.5(NDUFA9):c.721T>C (p.Tyr241His)
NM_005002.5(NDUFA9):c.938G>A (p.Trp313Ter)	rs1945978807
NM_005002.5(NDUFA9):c.962G>C (p.Arg321Pro)	rs199592341

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