List of variants in gene OPA1 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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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.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.1369G>A (p.Val457Met)	rs879255594
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.1910A>G (p.Tyr637Cys)	rs121908376
NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter)	rs879255593
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

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