List of variants in gene DNM1L studied for autosomal dominant optic atrophy

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_012062.5(DNM1L):c.1674+36T>A	rs4506737	0.40113
NM_012062.5(DNM1L):c.252G>A (p.Gly84=)	rs2272238	0.15635
NM_012062.5(DNM1L):c.120A>C (p.Ser40=)	rs10844308	0.14357
NM_012062.5(DNM1L):c.918A>G (p.Thr306=)	rs10844318	0.14349
NM_012062.5(DNM1L):c.741-19G>A	rs79520527	0.00897
NM_012062.5(DNM1L):c.305C>T (p.Thr102Met)	rs201929226	0.00024
NM_012062.5(DNM1L):c.1596+2T>A	rs769684495	0.00001
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)	rs863223953
NM_012062.5(DNM1L):c.1289G>A (p.Arg430His)	rs2137523963
NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr)	rs1064794656
NM_012062.5(DNM1L):c.1885-15del	rs863223951
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys)	rs1565548029
NM_012062.5(DNM1L):c.575C>A (p.Ala192Glu)	rs1555119216
NM_012062.5(DNM1L):c.5A>C (p.Glu2Ala)	rs1555229948
NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs)	rs1592631789

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