List of variants in gene AFG3L2 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys)	rs387906889	0.00001
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met)	rs1057522195
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)	rs2143165387
NM_006796.3(AFG3L2):c.2067_2068del (p.Tyr689_Ser690delinsTer)	rs765987297

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