List of variants in gene AFG3L2 reported as pathogenic for Optic atrophy 12

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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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.1010G>A (p.Gly337Glu)	rs1908566777
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met)	rs1057522195
NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly)	rs1908371616
NM_006796.3(AFG3L2):c.1402C>T (p.Arg468Cys)	rs1020764190
NM_006796.3(AFG3L2):c.1541C>T (p.Pro514Leu)	rs1908300748

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