List of variants in gene OPA1 reported as pathogenic by Eurofins NTD LLC (GA)

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1150-2A>G	rs886041317	0.00001
NM_130837.3(OPA1):c.1936-2A>G	rs747454971	0.00001
NM_130837.3(OPA1):c.2178+1G>A	rs1560392160	0.00001
NM_130837.3(OPA1):c.533T>A (p.Leu178Ter)	rs727504058	0.00001
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)	rs121908375
NM_130837.3(OPA1):c.1035+1G>A	rs727504059
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)	rs398124303
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)	rs104893753
NM_130837.3(OPA1):c.1305+1G>A	rs745927258
NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg)	rs727504060
NM_130837.3(OPA1):c.1389dup (p.Gly464fs)	rs1553877912
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)	rs80356529
NM_130837.3(OPA1):c.1517del (p.Leu506fs)	rs398124297
NM_130837.3(OPA1):c.1696delinsTTC (p.Ser566fs)	rs1553878647
NM_130837.3(OPA1):c.2224_2225del (p.Glu742fs)	rs794727345
NM_130837.3(OPA1):c.2422C>T (p.Gln808Ter)	rs398124301
NM_130837.3(OPA1):c.2547_2548del (p.Glu849fs)	rs1560041195
NM_130837.3(OPA1):c.2661+1G>T	rs794727392
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)	rs794727405
NM_130837.3(OPA1):c.2816dup (p.Arg940fs)	rs886043317
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130837.3(OPA1):c.292_301del (p.Leu98fs)	rs794727289
NM_130837.3(OPA1):c.2987_2988del (p.Lys996fs)	rs886043136
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)	rs879255560
NM_130837.3(OPA1):c.678+2T>G	rs1553872742
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)	rs794727804
NM_130837.3(OPA1):c.804_805del (p.Lys269fs)	rs863224142

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