List of variants in gene NDUFV2 studied for Mitochondrial complex 1 deficiency, nuclear type 7

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala)	rs906807	0.78836
NM_021074.5(NDUFV2):c.201A>T (p.Val67=)	rs41274300	0.11303
NM_021074.5(NDUFV2):c.428G>A (p.Arg143Gln)	rs148158107	0.00013
NM_021074.5(NDUFV2):c.427C>T (p.Arg143Ter)	rs768703151	0.00004
NM_021074.5(NDUFV2):c.553A>G (p.Met185Val)	rs377456305	0.00004
NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs)	rs772188600	0.00001
NC_000018.9:g.(9124982_9126828)_(9126906_9134183)del
NM_021074.5(NDUFV2):c.120+5_120+8del	rs752670374
NM_021074.5(NDUFV2):c.121-3T>C
NM_021074.5(NDUFV2):c.301-3del	rs759348789
NM_021074.5(NDUFV2):c.547G>A (p.Ala183Thr)
NM_021074.5(NDUFV2):c.548C>T (p.Ala183Val)	rs763378243
NM_021074.5(NDUFV2):c.579+1G>A
NM_021074.5(NDUFV2):c.580G>A (p.Glu194Lys)	rs1349183227
NM_021074.5(NDUFV2):c.656+8T>A

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