List of variants in gene QRSL1 reported as pathogenic for Combined oxidative phosphorylation deficiency 40

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_018292.5(QRSL1):c.850-3A>G	rs947204455	0.00002
NM_018292.5(QRSL1):c.1279_1280delinsTT (p.Ala427Leu)	rs1562173313
NM_018292.5(QRSL1):c.350G>A (p.Gly117Glu)	rs1777047446
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val)	rs1562168768
NM_018292.5(QRSL1):c.555C>A (p.Tyr185Ter)	rs763443331

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