List of variants in gene AFG3L2 reported as likely 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	rs912546325	0.00001
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)	rs151344523	0.00001
NM_006796.3(AFG3L2):c.1153G>A (p.Gly385Ser)	rs1064795281
NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn)	rs2143171648
NM_006796.3(AFG3L2):c.1540C>T (p.Pro514Ser)	rs1005670966
NM_006796.3(AFG3L2):c.1976C>T (p.Ala659Val)	rs1064796804
NM_006796.3(AFG3L2):c.58C>T (p.Gln20Ter)	rs1568149481
NM_006796.3(AFG3L2):c.964G>A (p.Glu322Lys)	rs1057518024

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