List of variants studied for Optic atrophy 12

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)	rs11553521	0.77624
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)	rs11080572	0.67857
NM_006796.3(AFG3L2):c.752+6C>T	rs8097342	0.67671
NM_006796.3(AFG3L2):c.*28G>C	rs1129115	0.28281
NM_006796.3(AFG3L2):c.1762G>A (p.Ala588Thr)	rs374828650	0.00005
NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro)	rs778455371	0.00002
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.1013C>A (p.Ala338Glu)
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.1270C>T (p.Gln424Ter)
NM_006796.3(AFG3L2):c.1402C>T (p.Arg468Cys)	rs1020764190
NM_006796.3(AFG3L2):c.1541C>T (p.Pro514Leu)	rs1908300748
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
NM_006796.3(AFG3L2):c.463G>A (p.Gly155Ser)	rs863223888
NM_006796.3(AFG3L2):c.753-55T>C	rs7407640

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