List of variants in gene NDUFS2 reported as uncertain significance for Mitochondrial complex 1 deficiency, nuclear type 6

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp)	rs144411579	0.00055
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.245T>A (p.Leu82Gln)
NM_001377299.1(NDUFS2):c.393+5G>A	rs375651203
NM_001377299.1(NDUFS2):c.412C>T (p.Arg138Trp)	rs1665634865
NM_001377299.1(NDUFS2):c.422A>G (p.Tyr141Cys)	rs1665635198
NM_001377299.1(NDUFS2):c.662G>A (p.Arg221Gln)	rs779304916
NM_001377299.1(NDUFS2):c.845A>C (p.Glu282Ala)
NM_001377299.1(NDUFS2):c.860G>A (p.Gly287Asp)
NM_001377299.1(NDUFS2):c.934G>C (p.Asp312His)	rs1482687384
NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp)	rs886045459

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