ClinVar Miner

List of variants in gene OPA1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP
GRCh37/hg19 3q29(chr3:193331148-193415325)x1
GRCh37/hg19 3q29(chr3:193360287-193360759)x1
NM_015560.2(OPA1):c.-10C>T rs775614028
NM_015560.2(OPA1):c.-11C>G rs568049951
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.1037G>A (p.Arg346Gln) rs1180256773
NM_015560.2(OPA1):c.1066-53T>G
NM_015560.2(OPA1):c.1071A>G (p.Ala357=) rs150807064
NM_015560.2(OPA1):c.1097G>A (p.Arg366Gln) rs535885178
NM_015560.2(OPA1):c.1137T>G (p.Pro379=) rs139861334
NM_015560.2(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1177A>C (p.Arg393=) rs149752576
NM_015560.2(OPA1):c.1187T>A (p.Leu396His) rs727504060
NM_015560.2(OPA1):c.1208T>C (p.Ile403Thr) rs863224135
NM_015560.2(OPA1):c.1212+10T>C rs200114656
NM_015560.2(OPA1):c.1212+38A>T
NM_015560.2(OPA1):c.1212+5G>T rs863224136
NM_015560.2(OPA1):c.1212+9A>G rs759086025
NM_015560.2(OPA1):c.1213-25G>C
NM_015560.2(OPA1):c.1301T>C (p.Leu434Pro) rs1553877946
NM_015560.2(OPA1):c.1310A>G (p.Gln437Arg) rs863225277
NM_015560.2(OPA1):c.1313-141G>A
NM_015560.2(OPA1):c.1325A>C (p.Asp442Ala) rs1064795743
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_015560.2(OPA1):c.1384A>C (p.Thr462Pro) rs1553878117
NM_015560.2(OPA1):c.1425T>A (p.Asn475Lys) rs863224137
NM_015560.2(OPA1):c.1443+295G>A
NM_015560.2(OPA1):c.1444-179G>A
NM_015560.2(OPA1):c.1516+1G>C rs886041318
NM_015560.2(OPA1):c.1516+1G>T rs886041318
NM_015560.2(OPA1):c.1535T>C (p.Ile512Thr) rs148834015
NM_015560.2(OPA1):c.1589+106G>A
NM_015560.2(OPA1):c.1589+265A>G
NM_015560.2(OPA1):c.1608A>C (p.Ala536=) rs78767626
NM_015560.2(OPA1):c.1648G>T (p.Asp550Tyr) rs1131691441
NM_015560.2(OPA1):c.1649del (p.Asp550fs) rs1064794125
NM_015560.2(OPA1):c.1669C>T (p.Arg557Ter) rs398124299
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.1705+17A>G rs749368763
NM_015560.2(OPA1):c.1706-19A>C rs1057522968
NM_015560.2(OPA1):c.1712G>A (p.Arg571His) rs140606054
NM_015560.2(OPA1):c.1770+16T>G rs9831772
NM_015560.2(OPA1):c.1771-21_1771-18del rs765277368
NM_015560.2(OPA1):c.182A>G (p.Gln61Arg) rs558532319
NM_015560.2(OPA1):c.1841A>T (p.Lys614Ile) rs146601330
NM_015560.2(OPA1):c.1847+1G>C rs863224134
NM_015560.2(OPA1):c.1847+1G>T rs863224134
NM_015560.2(OPA1):c.1847+7A>G rs767488490
NM_015560.2(OPA1):c.1863A>G (p.Gln621=) rs773826671
NM_015560.2(OPA1):c.1880G>A (p.Arg627Lys) rs772040791
NM_015560.2(OPA1):c.1884A>G (p.Val628=) rs73069703
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.2014-81G>T
NM_015560.2(OPA1):c.205C>G (p.Pro69Ala) rs750775588
NM_015560.2(OPA1):c.2064G>A (p.Pro688=) rs768448865
NM_015560.2(OPA1):c.2109T>C (p.Ala703=) rs9851685
NM_015560.2(OPA1):c.212G>A (p.Arg71His) rs766106312
NM_015560.2(OPA1):c.2166+10T>C rs371096629
NM_015560.2(OPA1):c.2166+115G>T
NM_015560.2(OPA1):c.2167-265T>G
NM_015560.2(OPA1):c.2197C>T (p.Arg733Ter) rs1553784985
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.2276-134G>C
NM_015560.2(OPA1):c.2276-13T>A rs773828534
NM_015560.2(OPA1):c.2276-234G>A
NM_015560.2(OPA1):c.2276-4dup rs761286590
NM_015560.2(OPA1):c.2276-98T>C
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.2355+4G>A
NM_015560.2(OPA1):c.2427T>C (p.Leu809=) rs145999595
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.2496+306C>T
NM_015560.2(OPA1):c.2496+4_2496+5delinsGTAAC rs863224143
NM_015560.2(OPA1):c.2564T>G (p.Leu855Arg) rs139106405
NM_015560.2(OPA1):c.2569C>T (p.Arg857Ter) rs794727405
NM_015560.2(OPA1):c.2613+11C>G rs111688935
NM_015560.2(OPA1):c.2614-149T>C
NM_015560.2(OPA1):c.2647A>G (p.Ile883Val) rs149866497
NM_015560.2(OPA1):c.2675A>C (p.Asn892Thr) rs750518068
NM_015560.2(OPA1):c.2707+15G>C rs199763700
NM_015560.2(OPA1):c.2707+178C>T
NM_015560.2(OPA1):c.2708-2A>G rs886041438
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2715A>G (p.Arg905=) rs144898877
NM_015560.2(OPA1):c.2720A>G (p.Glu907Gly) rs863224138
NM_015560.2(OPA1):c.2727_2731del (p.Asn909fs) rs1553787992
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.2796C>T (p.Arg932=) rs35540805
NM_015560.2(OPA1):c.2797G>A (p.Val933Ile) rs375733283
NM_015560.2(OPA1):c.2808G>A (p.Ala936=) rs117475774
NM_015560.2(OPA1):c.2808G>C (p.Ala936=) rs117475774
NM_015560.2(OPA1):c.2818+206C>T
NM_015560.2(OPA1):c.2818+207A>G
NM_015560.2(OPA1):c.2819-126T>C
NM_015560.2(OPA1):c.2819-250G>A
NM_015560.2(OPA1):c.2819-4A>G rs184273607
NM_015560.2(OPA1):c.2825_2828del (p.Val942fs) rs879255560
NM_015560.2(OPA1):c.2862A>C (p.Glu954Asp) rs189036094
NM_015560.2(OPA1):c.32+14C>T rs201927764
NM_015560.2(OPA1):c.321G>A (p.Ser107=) rs117888848
NM_015560.2(OPA1):c.420G>T (p.Val140=) rs35801538
NM_015560.2(OPA1):c.43C>A (p.Gln15Lys) rs75414918
NM_015560.2(OPA1):c.473G>A (p.Ser158Asn) rs7624750
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.531_533delinsATA (p.Ser177_Leu178delinsArgTer) rs863224141
NM_015560.2(OPA1):c.534A>G (p.Leu178=) rs758901451
NM_015560.2(OPA1):c.542A>G (p.Asp181Gly) rs138884045
NM_015560.2(OPA1):c.556+178G>T
NM_015560.2(OPA1):c.557-19T>C rs3772393
NM_015560.2(OPA1):c.557-233T>C
NM_015560.2(OPA1):c.565G>A (p.Glu189Lys) rs569675223
NM_015560.2(OPA1):c.575C>T (p.Ala192Val) rs34307082
NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) rs200243596
NM_015560.2(OPA1):c.6-13T>C rs1243357575
NM_015560.2(OPA1):c.624+235T>C
NM_015560.2(OPA1):c.624+296G>A
NM_015560.2(OPA1):c.625-5527G>T rs373326620
NM_015560.2(OPA1):c.625-5528C>T rs114348597
NM_015560.2(OPA1):c.635_636del (p.Lys212fs) rs794727804
NM_015560.2(OPA1):c.637_638GA[1] (p.Lys214fs) rs863224142
NM_015560.2(OPA1):c.679-279G>A
NM_015560.2(OPA1):c.679-4G>A rs377043223
NM_015560.2(OPA1):c.687T>G (p.Tyr229Ter) rs863224128
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.784-11A>C rs376681712
NM_015560.2(OPA1):c.784-12_784-11insTA rs544490050
NM_015560.2(OPA1):c.790_793TTGA[1] (p.Ile265fs) rs1064794208
NM_015560.2(OPA1):c.799A>G (p.Met267Val) rs938874214
NM_015560.2(OPA1):c.870+4T>C rs166850
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.871-1G>A rs863224130
NM_015560.2(OPA1):c.871G>C (p.Val291Leu) rs1553876590
NM_015560.2(OPA1):c.880G>T (p.Val294Phe) rs863224131
NM_015560.2(OPA1):c.88C>T (p.Leu30=) rs185976555
NM_015560.2(OPA1):c.961A>G (p.Met321Val) rs863224132
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) rs398124303
NM_015560.2(OPA1):c.985-2A>G rs886041317
NM_130837.2(OPA1):c.712C>G (p.Gln238Glu) rs1131691832
NM_130837.2(OPA1):c.740G>A (p.Arg247His) rs138350727
NM_130837.2(OPA1):c.748G>A (p.Ala250Thr) rs143918255

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