List of variants reported as uncertain significance for Mitochondrial complex 1 deficiency, nuclear type 6 by Genome-Nilou Lab

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001377299.1(NDUFS2):c.1212G>A (p.Lys404=)	rs145959971	0.00023
NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val)	rs754241926	0.00006
NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr)	rs140731056	0.00005
NM_001377299.1(NDUFS2):c.998G>A (p.Arg333Gln)	rs150981760	0.00004
NM_001377299.1(NDUFS2):c.1324C>T (p.His442Tyr)	rs201897431	0.00002
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys)	rs774162709	0.00001
NM_001377299.1(NDUFS2):c.1342G>A (p.Val448Ile)
NM_001377299.1(NDUFS2):c.393+5G>A	rs375651203
NM_001377299.1(NDUFS2):c.412C>T (p.Arg138Trp)	rs1665634865
NM_001377299.1(NDUFS2):c.59C>T (p.Pro20Leu)
NM_001377299.1(NDUFS2):c.845A>C (p.Glu282Ala)
NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp)	rs886045459

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