List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 13

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002488.5(NDUFA2):c.208+5G>A	rs1168752295	0.00001
NM_002488.5(NDUFA2):c.134A>C (p.Lys45Thr)	rs757982865
NM_002488.5(NDUFA2):c.170A>C (p.Glu57Ala)	rs1757460270
NM_002488.5(NDUFA2):c.199G>T (p.Ala67Ser)
NM_002488.5(NDUFA2):c.209-39G>A
NM_002488.5(NDUFA2):c.225del (p.Asn76fs)	rs863224084

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