ClinVar Miner

List of variants in gene OPA1 reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_130837.3(OPA1):c.556+2T>G rs762390227 0.00002
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln) rs535885178 0.00001
NM_130837.3(OPA1):c.1936-2A>G rs747454971 0.00001
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr) rs143929819 0.00001
NM_130837.3(OPA1):c.1018C>T (p.Gln340Ter) rs1048376563
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.1036-1G>A rs863224130
NM_130837.3(OPA1):c.1036-1G>T rs863224130
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu) rs1553876590
NM_130837.3(OPA1):c.1039G>T (p.Val347Phe) rs2109014867
NM_130837.3(OPA1):c.1045G>T (p.Val349Phe) rs863224131
NM_130837.3(OPA1):c.1055A>C (p.Gln352Pro) rs2109014902
NM_130837.3(OPA1):c.1057A>G (p.Ser353Gly)
NM_130837.3(OPA1):c.1126A>G (p.Met376Val) rs863224132
NM_130837.3(OPA1):c.1150-2A>T rs886041317
NM_130837.3(OPA1):c.1174C>G (p.His392Asp) rs1553877591
NM_130837.3(OPA1):c.1202G>A (p.Arg401Gln) rs1180256773
NM_130837.3(OPA1):c.1230+5G>A rs1057519244
NM_130837.3(OPA1):c.1305G>A (p.Glu435=)
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu) rs794727069
NM_130837.3(OPA1):c.1373T>C (p.Ile458Thr) rs863224135
NM_130837.3(OPA1):c.1377+5del rs2109043788
NM_130837.3(OPA1):c.1417_1418del (p.Ile473fs)
NM_130837.3(OPA1):c.1442T>G (p.Met481Arg)
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1490A>C (p.Asp497Ala) rs1064795743
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser) rs886043340
NM_130837.3(OPA1):c.1498C>T (p.Arg500Cys)
NM_130837.3(OPA1):c.1549A>C (p.Thr517Pro) rs1553878117
NM_130837.3(OPA1):c.1627G>A (p.Gly543Arg) rs1553878554
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.1754+1dup
NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro) rs1711513392
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_130837.3(OPA1):c.1A>T (p.Met1Leu)
NM_130837.3(OPA1):c.2013-1G>A rs2109138708
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly) rs2109139343
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.2635C>T (p.Arg879Ter) rs879255593
NM_130837.3(OPA1):c.2661+1G>T rs794727392
NM_130837.3(OPA1):c.2661+2T>C
NM_130837.3(OPA1):c.2661G>A (p.Leu887=) rs2109232184
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) rs794727405
NM_130837.3(OPA1):c.2983+3G>C rs1553788117
NM_130837.3(OPA1):c.2984-1_2986del rs2109460398
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.3010del (p.Asp1005fs) rs1721762061
NM_130837.3(OPA1):c.533del (p.Leu178fs)
NM_130837.3(OPA1):c.610+364G>A rs983041061
NM_130837.3(OPA1):c.6G>A (p.Trp2Ter)
NM_130837.3(OPA1):c.768C>G (p.Ser256Arg)
NM_130837.3(OPA1):c.865G>T (p.Glu289Ter) rs1319065221
NM_130837.3(OPA1):c.900dup (p.Leu301fs) rs2109002510
NM_130837.3(OPA1):c.980T>C (p.Leu327Pro) rs2109011461

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