List of variants in gene OPA1 reported as pathogenic by Athena Diagnostics Inc

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_015560.2(OPA1):c.985del	rs2109039412
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)	rs121908375
NM_130837.3(OPA1):c.1035+2del	rs1577226484
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)	rs761460379
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)	rs398124303
NM_130837.3(OPA1):c.1150-1G>A	rs879255510
NM_130837.3(OPA1):c.1377_1377+4del	rs1577242473
NM_130837.3(OPA1):c.1389dup (p.Gly464fs)	rs1553877912
NM_130837.3(OPA1):c.1714G>T (p.Glu572Ter)	rs748215343
NM_130837.3(OPA1):c.1734del (p.Gln579fs)	rs1560377736
NM_130837.3(OPA1):c.2140C>T (p.Gln714Ter)
NM_130837.3(OPA1):c.2287del (p.Ser763fs)	rs1219753329
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)	rs863224906
NM_130837.3(OPA1):c.2406del (p.Phe802fs)	rs1553785025
NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter)	rs1553785338
NM_130837.3(OPA1):c.2520+1G>A	rs1553785362
NM_130837.3(OPA1):c.256del (p.Arg86fs)	rs1553871618
NM_130837.3(OPA1):c.2631del (p.Glu877fs)
NM_130837.3(OPA1):c.2661+1G>T	rs794727392
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)	rs794727405
NM_130837.3(OPA1):c.2751C>G (p.Tyr917Ter)	rs1577327315
NM_130837.3(OPA1):c.2779-2A>G
NM_130837.3(OPA1):c.2787C>A (p.Cys929Ter)
NM_130837.3(OPA1):c.2873_2876del	rs80356530
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.3013_3019dup (p.Phe1007Ter)	rs1553797598
NM_130837.3(OPA1):c.448+1G>A
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)	rs794727804
NM_130837.3(OPA1):c.804_805del (p.Lys269fs)	rs863224142
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter)	rs761743852
NM_130837.3(OPA1):c.93_96dup (p.Leu33fs)	rs1728761079
NM_130837.3(OPA1):c.959_962del (p.Ile320fs)	rs1064794208

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