List of variants in gene OPA1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1230+5G>A	rs1057519244
NM_130837.3(OPA1):c.2519A>G (p.Gln840Arg)	rs1064797302
NM_130837.3(OPA1):c.2521-8T>G	rs1064797303
NM_130837.3(OPA1):c.2551G>T (p.Glu851Ter)	rs1553786499
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)	rs879255560
NM_130837.3(OPA1):c.865G>T (p.Glu289Ter)	rs1319065221
NM_130837.3(OPA1):c.900dup (p.Leu301fs)	rs2109002510

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