List of variants in gene LOC112552175, NDUFA11 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_175614.4(NDUFA11):c.-217A>G	rs1056987	0.68730
NM_175614.4(NDUFA11):c.-88C>A	rs8108064	0.64945
NM_175614.4(NDUFA11):c.-234T>C	rs115530541	0.01556
NM_175614.5(NDUFA11):c.48C>T (p.Thr16=)	rs146562956	0.00828
NM_175614.4(NDUFA11):c.-83G>C	rs562075121	0.00199
NM_175614.4(NDUFA11):c.-143C>G	rs550697802	0.00004
NM_175614.5(NDUFA11):c.-31G>A	rs886054648	0.00004
NM_175614.4(NDUFA11):c.-210T>C	rs886054650	0.00002
NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser)	rs1192917919	0.00001
NM_175614.5(NDUFA11):c.-51T>G	rs886054649

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