List of variants in gene AFG2A 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln)	rs147873489	0.00058
NM_145207.3(AFG2A):c.2081G>A (p.Gly694Glu)	rs141576468	0.00011
NM_145207.3(AFG2A):c.2456T>C (p.Val819Ala)	rs149604630	0.00003
NM_145207.3(AFG2A):c.1333C>T (p.Arg445Ter)	rs879782394	0.00001
NM_145207.3(AFG2A):c.1528C>T (p.Arg510Ter)	rs267600009	0.00001
NM_145207.3(AFG2A):c.2045C>T (p.Ala682Val)	rs866943725	0.00001
NM_145207.3(AFG2A):c.2351G>A (p.Arg784Gln)	rs796051894	0.00001
NM_145207.3(AFG2A):c.446+1G>A	rs1166181741	0.00001
NM_145207.3(AFG2A):c.554G>A (p.Gly185Glu)	rs753587518	0.00001
NM_145207.3(AFG2A):c.1073del (p.Gly357_Leu358insTer)	rs751291521
NM_145207.3(AFG2A):c.1442T>C (p.Met481Thr)	rs1064796791
NM_145207.3(AFG2A):c.2079+1dup	rs1560894236
NM_145207.3(AFG2A):c.2225del (p.Ala742fs)	rs1553983667
NM_145207.3(AFG2A):c.269G>T (p.Ser90Ile)	rs796051893
NM_145207.3(AFG2A):c.304C>T (p.Pro102Ser)	rs772049150

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