ClinVar Miner

List of variants in gene OPA1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP
NC_000003.12:g.193593196C>A
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_015560.2(OPA1):c.*1815T>C rs570796106
NM_015560.2(OPA1):c.*1919T>A rs867799524
NM_015560.2(OPA1):c.*2156A>G rs886058258
NM_015560.2(OPA1):c.*2241A>G rs778074372
NM_015560.2(OPA1):c.*2283A>G rs886058259
NM_015560.2(OPA1):c.*2416C>T rs539683627
NM_015560.2(OPA1):c.*2605_*2607del rs886058260
NM_015560.2(OPA1):c.*260G>T rs886058256
NM_015560.2(OPA1):c.*2692G>A rs886058261
NM_015560.2(OPA1):c.*2694T>A rs886058262
NM_015560.2(OPA1):c.*2909A>T rs886058263
NM_015560.2(OPA1):c.*3147G>C rs886058264
NM_015560.2(OPA1):c.*322G>A rs886058257
NM_015560.2(OPA1):c.*56C>T rs564487151
NM_015560.2(OPA1):c.*622C>T rs750359704
NM_015560.2(OPA1):c.*694C>A rs190367068
NM_015560.2(OPA1):c.*863A>G rs193292545
NM_015560.2(OPA1):c.-102G>A rs886058255
NM_015560.2(OPA1):c.-10C>T rs775614028
NM_015560.2(OPA1):c.-8C>T rs371988066
NM_015560.2(OPA1):c.1003C>T (p.Pro335Ser) rs1057524630
NM_015560.2(OPA1):c.1024A>G (p.Lys342Glu) rs1057517999
NM_015560.2(OPA1):c.1028A>C (p.Asp343Ala) rs756981921
NM_015560.2(OPA1):c.1030A>C (p.Ser344Arg) rs1553877599
NM_015560.2(OPA1):c.1123T>G (p.Cys375Gly) rs1313421147
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1158A>G (p.Val386=) rs1014702193
NM_015560.2(OPA1):c.1212+5_1212+6delinsTC rs797044639
NM_015560.2(OPA1):c.1233T>C (p.Ala411=) rs886043473
NM_015560.2(OPA1):c.1266C>G (p.Ser422Arg) rs1553877941
NM_015560.2(OPA1):c.1301T>C (p.Leu434Pro) rs1553877946
NM_015560.2(OPA1):c.1333C>A (p.Arg445Ser) rs886043340
NM_015560.2(OPA1):c.1380_1382del (p.Arg461del) rs1199056091
NM_015560.2(OPA1):c.1412T>C (p.Leu471Pro) rs1553878150
NM_015560.2(OPA1):c.1425T>A (p.Asn475Lys) rs863224137
NM_015560.2(OPA1):c.1501G>A (p.Val501Ile) rs1553878564
NM_015560.2(OPA1):c.1516+23A>G rs200416825
NM_015560.2(OPA1):c.1516+3A>G rs1553878573
NM_015560.2(OPA1):c.1516+5G>A rs1553878576
NM_015560.2(OPA1):c.1535T>C (p.Ile512Thr) rs148834015
NM_015560.2(OPA1):c.1560A>C (p.Glu520Asp) rs1424763009
NM_015560.2(OPA1):c.1590-6dup rs748933560
NM_015560.2(OPA1):c.1648G>T (p.Asp550Tyr) rs1131691441
NM_015560.2(OPA1):c.1669_1671del (p.Arg557del) rs1560380246
NM_015560.2(OPA1):c.1673A>C (p.Glu558Ala) rs949979832
NM_015560.2(OPA1):c.1703A>G (p.Lys568Arg) rs1553879126
NM_015560.2(OPA1):c.1706C>A (p.Ala569Glu) rs1553879362
NM_015560.2(OPA1):c.1712G>A (p.Arg571His) rs140606054
NM_015560.2(OPA1):c.1781T>C (p.Phe594Ser) rs886042514
NM_015560.2(OPA1):c.1841A>T (p.Lys614Ile) rs146601330
NM_015560.2(OPA1):c.1880G>A (p.Arg627Lys) rs772040791
NM_015560.2(OPA1):c.1923G>A (p.Ala641=) rs138114609
NM_015560.2(OPA1):c.1978T>C (p.Trp660Arg) rs1553881180
NM_015560.2(OPA1):c.2124_2141del (p.Ser708_Trp714delinsArg) rs886043383
NM_015560.2(OPA1):c.212G>A (p.Arg71His) rs766106312
NM_015560.2(OPA1):c.2255T>C (p.Leu752Pro) rs1560035790
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.2264G>A (p.Arg755His) rs762258708
NM_015560.2(OPA1):c.2276-4C>G rs763386320
NM_015560.2(OPA1):c.2276-4dup rs761286590
NM_015560.2(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_015560.2(OPA1):c.2341C>T (p.Arg781Trp) rs190235251
NM_015560.2(OPA1):c.2355+13A>G rs371943802
NM_015560.2(OPA1):c.2356-8T>G rs1064797303
NM_015560.2(OPA1):c.239A>G (p.Tyr80Cys) rs151103940
NM_015560.2(OPA1):c.2427T>C (p.Leu809=) rs145999595
NM_015560.2(OPA1):c.2445C>T (p.Thr815=) rs139934030
NM_015560.2(OPA1):c.2452C>T (p.Arg818Trp) rs143252541
NM_015560.2(OPA1):c.2471G>A (p.Arg824Gln) rs200412464
NM_015560.2(OPA1):c.254G>A (p.Arg85His) rs35630194
NM_015560.2(OPA1):c.2564T>G (p.Leu855Arg) rs139106405
NM_015560.2(OPA1):c.2675A>C (p.Asn892Thr) rs750518068
NM_015560.2(OPA1):c.2714G>A (p.Arg905Gln) rs763280368
NM_015560.2(OPA1):c.2720A>G (p.Glu907Gly) rs863224138
NM_015560.2(OPA1):c.272C>G (p.Ala91Gly) rs1085307621
NM_015560.2(OPA1):c.2737G>T (p.Val913Leu) rs863224139
NM_015560.2(OPA1):c.2797G>A (p.Val933Ile) rs375733283
NM_015560.2(OPA1):c.2808G>C (p.Ala936=) rs117475774
NM_015560.2(OPA1):c.2862A>C (p.Glu954Asp) rs189036094
NM_015560.2(OPA1):c.326T>C (p.Val109Ala) rs77173739
NM_015560.2(OPA1):c.33-8T>C rs370303596
NM_015560.2(OPA1):c.344C>T (p.Ala115Val) rs200983556
NM_015560.2(OPA1):c.429T>C (p.Ile143=) rs761336580
NM_015560.2(OPA1):c.49T>A (p.Leu17Ile) rs760770105
NM_015560.2(OPA1):c.516T>G (p.Ile172Met) rs863224126
NM_015560.2(OPA1):c.530G>T (p.Ser177Ile) rs150279202
NM_015560.2(OPA1):c.542A>G (p.Asp181Gly) rs138884045
NM_015560.2(OPA1):c.556+546_556+547del rs886043124
NM_015560.2(OPA1):c.557-672G>A rs1553872542
NM_015560.2(OPA1):c.557-8_557-3del rs1553872701
NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) rs200243596
NM_015560.2(OPA1):c.625-4T>A rs374509936
NM_015560.2(OPA1):c.625-5451G>A rs143918255
NM_015560.2(OPA1):c.625-5459G>A rs138350727
NM_015560.2(OPA1):c.625-5487C>G rs1131691832
NM_015560.2(OPA1):c.70A>G (p.Ile24Val) rs201520438
NM_015560.2(OPA1):c.756C>T (p.Asp252=) rs147242797
NM_015560.2(OPA1):c.778C>G (p.Leu260Val) rs866764665
NM_015560.2(OPA1):c.799A>G (p.Met267Val) rs938874214
NM_015560.2(OPA1):c.825C>T (p.Leu275=) rs201242590
NM_015560.2(OPA1):c.851C>T (p.Thr284Met) rs141326740
NM_015560.2(OPA1):c.85C>G (p.Pro29Ala) rs145565705
NM_015560.2(OPA1):c.871-6G>A rs1553876585
NM_015560.2(OPA1):c.871-9T>C rs531187028
NM_015560.2(OPA1):c.872T>A (p.Val291Asp) rs1553876592
NM_015560.2(OPA1):c.88C>T (p.Leu30=) rs185976555
NM_015560.2(OPA1):c.932C>A (p.Ala311Asp) rs398124302
NM_015560.2(OPA1):c.984G>T (p.Lys328Asn) rs1560365123
NM_130831.3(OPA1):c.448+1490C>A rs727504057
NM_130837.2(OPA1):c.1744A>C (p.Lys582Gln) rs766935532
NM_130837.2(OPA1):c.2099A>G (p.Asn700Ser) rs142694017
NM_130837.2(OPA1):c.245A>G (p.Tyr82Cys) rs749063844
NM_130837.2(OPA1):c.679-4G>T rs757018661
NM_130837.2(OPA1):c.706C>A (p.Gln236Lys) rs779375399
NM_130837.3(OPA1):c.*1039A>G
NM_130837.3(OPA1):c.*1131C>T
NM_130837.3(OPA1):c.*1266G>A
NM_130837.3(OPA1):c.*1581A>C
NM_130837.3(OPA1):c.*1884C>T
NM_130837.3(OPA1):c.*1920C>A
NM_130837.3(OPA1):c.*2170A>G
NM_130837.3(OPA1):c.*2234G>A
NM_130837.3(OPA1):c.*2801A>G
NM_130837.3(OPA1):c.*2839C>T
NM_130837.3(OPA1):c.*2861A>G
NM_130837.3(OPA1):c.*2902A>G
NM_130837.3(OPA1):c.*341G>T
NM_130837.3(OPA1):c.*403T>C
NM_130837.3(OPA1):c.*427A>T
NM_130837.3(OPA1):c.*614A>G
NM_130837.3(OPA1):c.*743G>C
NM_130837.3(OPA1):c.-144T>C
NM_130837.3(OPA1):c.-3G>A
NM_130837.3(OPA1):c.1136G>A (p.Arg379His)
NM_130837.3(OPA1):c.1149+3A>T
NM_130837.3(OPA1):c.124C>T (p.His42Tyr)
NM_130837.3(OPA1):c.1585A>G (p.Lys529Glu)
NM_130837.3(OPA1):c.1591G>A (p.Val531Ile)
NM_130837.3(OPA1):c.1626A>G (p.Glu542=)
NM_130837.3(OPA1):c.1630A>G (p.Lys544Glu)
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.1769A>C (p.Lys590Thr)
NM_130837.3(OPA1):c.1811C>T (p.Ser604Leu)
NM_130837.3(OPA1):c.1839G>A (p.Glu613=)
NM_130837.3(OPA1):c.187T>A (p.Ser63Thr)
NM_130837.3(OPA1):c.2095A>G (p.Met699Val)
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del)
NM_130837.3(OPA1):c.2350G>A (p.Ala784Thr)
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)
NM_130837.3(OPA1):c.267G>T (p.Trp89Cys)
NM_130837.3(OPA1):c.278T>C (p.Leu93Ser)
NM_130837.3(OPA1):c.2959C>T (p.Arg987Cys)
NM_130837.3(OPA1):c.3016G>A (p.Ala1006Thr)
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys)
NM_130837.3(OPA1):c.556+2T>G
NM_130837.3(OPA1):c.780_781del (p.Lys261fs)
NM_130837.3(OPA1):c.800A>G (p.Lys267Arg)
NM_130837.3(OPA1):c.838A>G (p.Thr280Ala)
NM_130837.3(OPA1):c.851A>G (p.Tyr284Cys)
NM_130837.3(OPA1):c.861C>G (p.Ile287Met)
NM_130837.3(OPA1):c.869G>A (p.Arg290Gln)
NM_130837.3(OPA1):c.977T>C (p.Val326Ala)
NM_130837.3(OPA1):c.985G>A (p.Val329Ile)

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