List of variants studied for autosomal dominant optic atrophy by OMIM

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00056
NM_012062.5(DNM1L):c.575C>A (p.Ala192Glu)	rs1555119216
NM_012062.5(DNM1L):c.5A>C (p.Glu2Ala)	rs1555229948
NM_025136.4(OPA3):c.277G>A (p.Gly93Ser)	rs80356524
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)	rs80356525
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)	rs121908375
NM_130837.3(OPA1):c.1064G>A (p.Gly355Glu)	rs28939082
NM_130837.3(OPA1):c.1150-1G>A	rs879255510
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)	rs104893753
NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del)	rs879255511
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val)	rs387906899
NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)	rs387906900
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)	rs80356529
NM_130837.3(OPA1):c.1519del (p.Val507fs)	rs879255512
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg)	rs398124298
NM_130837.3(OPA1):c.1817G>A (p.Cys606Tyr)	rs879255592
NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys)	rs121908376
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130837.3(OPA1):c.2894T>A (p.Val965Asp)	rs387906901
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)	rs879255560
NM_130837.3(OPA1):c.2991del (p.Arg998fs)	rs80356531
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs)	rs879255513
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)	rs587777771

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