List of variants in gene UQCC2 studied for mitochondrial complex III 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: 19

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HGVS	dbSNP	gnomAD frequency
NM_032340.4(UQCC2):c.321G>A (p.Met107Ile)	rs34770331	0.00258
NM_032340.4(UQCC2):c.225C>A (p.Pro75=)	rs114881155	0.00173
NM_032340.4(UQCC2):c.112G>A (p.Ala38Thr)	rs200180350	0.00031
NM_032340.4(UQCC2):c.75G>C (p.Arg25=)	rs200426793	0.00019
NM_032340.4(UQCC2):c.138G>A (p.Gln46=)	rs151298574	0.00006
NM_032340.3(UQCC2):c.[23G>C;28C>T]
NM_032340.4(UQCC2):c.101G>A (p.Arg34Gln)
NM_032340.4(UQCC2):c.165G>C (p.Gln55His)
NM_032340.4(UQCC2):c.167T>C (p.Met56Thr)
NM_032340.4(UQCC2):c.214-3C>G	rs587777410
NM_032340.4(UQCC2):c.214-6G>A
NM_032340.4(UQCC2):c.214-9G>A
NM_032340.4(UQCC2):c.283+3A>C
NM_032340.4(UQCC2):c.28C>T (p.Leu10Phe)	rs1582186030
NM_032340.4(UQCC2):c.330del (p.Lys110fs)
NM_032340.4(UQCC2):c.347C>T (p.Ala116Val)
NM_032340.4(UQCC2):c.37T>C (p.Cys13Arg)	rs1167742265
NM_032340.4(UQCC2):c.3G>A (p.Met1Ile)
NM_032340.4(UQCC2):c.4G>A (p.Ala2Thr)

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