List of variants in gene PDZD9, UQCRC2 studied for Mitochondrial complex III deficiency nuclear type 5

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln)	rs4850	0.03828
NM_003366.4(UQCRC2):c.953A>C (p.Gln318Pro)	rs146974535	0.00264
NM_003366.4(UQCRC2):c.361T>C (p.Tyr121His)	rs778618710	0.00014
NM_003366.4(UQCRC2):c.1189G>A (p.Gly397Arg)	rs1384782297
NM_003366.4(UQCRC2):c.1228T>C (p.Ser410Pro)	rs1164035037
NM_003366.4(UQCRC2):c.1254dup (p.Val419fs)
NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro)	rs2141926322
NM_003366.4(UQCRC2):c.323G>A (p.Gly108Asp)	rs2141927529
NM_003366.4(UQCRC2):c.437T>C (p.Phe146Ser)
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp)	rs374661051
NM_003366.4(UQCRC2):c.661A>T (p.Ile221Phe)	rs1273091315
NM_003366.4(UQCRC2):c.665G>C (p.Gly222Ala)	rs1898386320
NM_003366.4(UQCRC2):c.729dup (p.Leu244fs)

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