ClinVar Miner

List of variants in gene OPA1 studied for Dominant hereditary optic atrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_015560.2(OPA1):c.1065+1G>T rs80356528
NM_015560.2(OPA1):c.1067_1068dup (p.Ala357fs) rs863225275
NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter) rs104893753
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1202G>A (p.Gly401Asp) rs863225276
NM_015560.2(OPA1):c.1293_1295CAT[1] (p.Ile433del) rs879255511
NM_015560.2(OPA1):c.1310A>G (p.Gln437Arg) rs863225277
NM_015560.2(OPA1):c.1354del (p.Val452fs) rs879255512
NM_015560.2(OPA1):c.2109T>C (p.Ala703=) rs9851685
NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter) rs863224906
NM_015560.2(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2825_2828del (p.Val942fs) rs879255560
NM_015560.2(OPA1):c.2826del (p.Arg943fs) rs80356531
NM_015560.2(OPA1):c.2848_2849del (p.Asp950fs) rs879255513
NM_015560.2(OPA1):c.728T>A (p.Leu243Ter) rs863225274
NM_015560.2(OPA1):c.869G>A (p.Arg290Gln) rs121908375
NM_015560.2(OPA1):c.870+4T>C rs166850
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.871G>C (p.Val291Leu) rs1553876590
NM_015560.2(OPA1):c.899G>A (p.Gly300Glu) rs28939082
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) rs398124303
NM_015560.2(OPA1):c.985-1G>A rs879255510
NM_130837.2(OPA1):c.740G>A (p.Arg247His) rs138350727

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.