ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) rs139861334 0.00050
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00041
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00039
NM_130837.3(OPA1):c.2592T>C (p.Leu864=) rs145999595 0.00020
NM_130837.3(OPA1):c.88C>T (p.Leu30=) rs185976555 0.00019
NM_130837.3(OPA1):c.70A>G (p.Ile24Val) rs201520438 0.00017
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_130837.3(OPA1):c.211C>T (p.Arg71Cys) rs368488165 0.00009
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln) rs200412464 0.00008
NM_130837.3(OPA1):c.1877G>A (p.Arg626His) rs140606054 0.00006
NM_130837.3(OPA1):c.1934G>A (p.Arg645Gln) rs147077380 0.00006
NM_130837.3(OPA1):c.2436G>A (p.Lys812=) rs765782153 0.00005
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 0.00004
NM_130837.3(OPA1):c.87A>G (p.Pro29=) rs765574821 0.00004
NM_130837.3(OPA1):c.326T>C (p.Val109Ala) rs77173739 0.00001
GRCh37/hg19 3q29(chr3:193355741-193355854)x1
NM_130837.3(OPA1):c.1035+1G>A rs727504059
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.110C>T (p.Ser37Leu)
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1157dup (p.Ser387fs) rs1733978179
NM_130837.3(OPA1):c.1230+1G>A rs80356528
NM_130837.3(OPA1):c.1230+5G>A rs1057519244
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_130837.3(OPA1):c.1359C>G (p.Asp453Glu)
NM_130837.3(OPA1):c.1377+4del rs2109043753
NM_130837.3(OPA1):c.1465C>T (p.Leu489=) rs1577243073
NM_130837.3(OPA1):c.1478A>T (p.Asp493Val) rs1734162973
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.154C>T (p.Arg52Ter) rs1560327427
NM_130837.3(OPA1):c.1575_1608+4del rs1734176382
NM_130837.3(OPA1):c.1681+1G>T rs886041318
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_130837.3(OPA1):c.1725A>C (p.Glu575Asp) rs1424763009
NM_130837.3(OPA1):c.1754+22T>G
NM_130837.3(OPA1):c.1871C>A (p.Ala624Glu) rs1553879362
NM_130837.3(OPA1):c.1899G>A (p.Trp633Ter) rs1711514692
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.2057_2058del (p.His686fs) rs1713427542
NM_130837.3(OPA1):c.2284G>T (p.Glu762Ter) rs2109163970
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter) rs863224906
NM_130837.3(OPA1):c.2440+1G>A
NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter) rs1553785338
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.2702dup (p.Leu901fs) rs2109253692
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) rs794727405
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.278T>C (p.Leu93Ser) rs767232015
NM_130837.3(OPA1):c.2815C>T (p.Gln939Ter) rs2109268057
NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2879G>A (p.Arg960Gln) rs763280368
NM_130837.3(OPA1):c.2926_2939del (p.Asp975_Gly976insTer) rs1553788026
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.429T>C (p.Ile143=) rs761336580
NM_130837.3(OPA1):c.610+360G>A rs1553872542
NM_130837.3(OPA1):c.610+364G>A rs983041061
NM_130837.3(OPA1):c.611-8_611-3del rs1553872701
NM_130837.3(OPA1):c.629_631delinsGC (p.Ala210fs) rs2108889206
NM_130837.3(OPA1):c.743G>A (p.Arg248Lys)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.820C>T (p.Gln274Ter) rs1732086609
NM_130837.3(OPA1):c.865G>T (p.Glu289Ter) rs1319065221
NM_130837.3(OPA1):c.900dup (p.Leu301fs) rs2109002510
NM_130837.3(OPA1):c.949-1G>C rs1733081846
NM_130837.3(OPA1):c.959_962del (p.Ile320fs) rs1064794208
NM_130837.3(OPA1):c.962A>G (p.Asp321Gly)

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.