List of variants in gene LOC130067862, SCO2, TYMP studied for Mitochondrial complex IV 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.972C>T (p.Ala324=)	rs131804	0.51130
NM_001953.5(TYMP):c.1284T>A (p.Gly428=)	rs1138404	0.14075
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys)	rs762630777	0.00036
NM_001953.5(TYMP):c.995C>T (p.Ala332Val)	rs778306525	0.00036
NM_001953.5(TYMP):c.1176C>T (p.Val392=)	rs770533125	0.00021
NM_001953.5(TYMP):c.1137G>A (p.Glu379=)	rs764142194	0.00008
NM_001953.5(TYMP):c.1147G>A (p.Ala383Thr)	rs771700483	0.00002
NM_001953.4(TYMP):c.929-6_929-3del	rs201685922
NM_001953.5(TYMP):c.1044G>A (p.Ala348=)	rs886057633

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