ClinVar Miner

List of variants in gene OPA1 reported by Athena Diagnostics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88312
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_130837.3(OPA1):c.2973G>A (p.Ala991=) rs117475774 0.00742
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00304
NM_130837.3(OPA1):c.1342A>C (p.Arg448=) rs149752576 0.00229
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00182
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00057
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00042
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00040
NM_130837.3(OPA1):c.2592T>C (p.Leu864=) rs145999595 0.00020
NM_130837.3(OPA1):c.88C>T (p.Leu30=) rs185976555 0.00020
NM_130837.3(OPA1):c.1293C>T (p.Thr431=) rs111488647 0.00016
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_130837.3(OPA1):c.1377+10T>C rs200114656 0.00007
NM_130837.3(OPA1):c.2331+10T>C rs371096629 0.00005
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met) rs141326740 0.00004
NM_130837.3(OPA1):c.1036-8G>T rs367618769 0.00003
NM_130837.3(OPA1):c.706C>A (p.Gln236Lys) rs779375399 0.00002
NM_130837.3(OPA1):c.1150-2A>G rs886041317 0.00001
NM_130837.3(OPA1):c.326T>C (p.Val109Ala) rs77173739 0.00001
NM_130837.3(OPA1):c.556+3A>G rs1210408290 0.00001
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.1035+5G>A rs754576717
NM_130837.3(OPA1):c.1036-1G>T rs863224130
NM_130837.3(OPA1):c.1036-6G>A rs1553876585
NM_130837.3(OPA1):c.1037T>A (p.Val346Asp) rs1553876592
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.1136G>A (p.Arg379His) rs1475478496
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) rs398124303
NM_130837.3(OPA1):c.1150-1G>A rs879255510
NM_130837.3(OPA1):c.1150-2A>T rs886041317
NM_130837.3(OPA1):c.1174C>G (p.His392Asp) rs1553877591
NM_130837.3(OPA1):c.1377_1377+4del rs1577242473
NM_130837.3(OPA1):c.1389dup (p.Gly464fs) rs1553877912
NM_130837.3(OPA1):c.1407_1410del (p.Glu471fs)
NM_130837.3(OPA1):c.1431C>G (p.Ser477Arg) rs1553877941
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1480G>A (p.Gly494Arg) rs2109046811
NM_130837.3(OPA1):c.1577T>C (p.Leu526Pro) rs1553878150
NM_130837.3(OPA1):c.1627G>A (p.Gly543Arg) rs1553878554
NM_130837.3(OPA1):c.1666G>A (p.Val556Ile) rs1553878564
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_130837.3(OPA1):c.1681+5G>A rs1553878576
NM_130837.3(OPA1):c.1714G>T (p.Glu572Ter) rs748215343
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.1734del (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro) rs1711513392
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly) rs2109139343
NM_130837.3(OPA1):c.2140C>T (p.Gln714Ter) rs2475018588
NM_130837.3(OPA1):c.2143T>C (p.Trp715Arg) rs1553881180
NM_130837.3(OPA1):c.2179-7A>G rs2109162943
NM_130837.3(OPA1):c.2218A>C (p.Met740Leu) rs1023896326
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.2441-5T>C
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) rs2475135115
NM_130837.3(OPA1):c.2661+1G>T rs794727392
NM_130837.3(OPA1):c.2661+2T>C rs2475135585
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 rs2109267841
NM_130837.3(OPA1):c.2787C>A (p.Cys929Ter) rs1716527148
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2983+3G>C rs1553788117
NM_130837.3(OPA1):c.2987_2988del (p.Lys996fs) rs886043136
NM_130837.3(OPA1):c.2987_2992del (p.Lys996_Val997del) rs2109460418
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.3010del (p.Asp1005fs) rs1721762061
NM_130837.3(OPA1):c.3013_3019dup (p.Phe1007Ter) rs1553797598
NM_130837.3(OPA1):c.448+1G>A rs2474585323
NM_130837.3(OPA1):c.523A>C (p.Ser175Arg)
NM_130837.3(OPA1):c.6G>A (p.Trp2Ter) rs2474395788
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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