List of variants studied for hereditary optic atrophy by Baylor Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00056
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met)	rs141326740	0.00004
NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His)	rs372054380	0.00003
NM_032730.5(RTN4IP1):c.601A>T (p.Lys201Ter)	rs200457692	0.00001
NM_032730.5(RTN4IP1):c.92G>C (p.Arg31Thr)	rs1327054264	0.00001
NM_001098.3(ACO2):c.2145CAA[1] (p.Asn716del)	rs2066638829
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)	rs863223953
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys)	rs1565548029
NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs)	rs1592631789
NM_014263.4(YME1L1):c.2060A>G (p.Lys687Arg)	rs758233530
NM_025136.4(OPA3):c.301T>C (p.Tyr101His)	rs1969377552
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)	rs121908375
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser)	rs2075231562
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	rs1064797245
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)	rs398122887

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