ClinVar Miner

List of variants in gene OPA1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP
NM_015560.2(OPA1):c.-10C>T rs775614028
NM_015560.2(OPA1):c.-11C>G rs568049951
NM_015560.2(OPA1):c.1024A>G (p.Lys342Glu) rs1057517999
NM_015560.2(OPA1):c.1071A>G (p.Ala357=) rs150807064
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.1177A>C (p.Arg393=) rs149752576
NM_015560.2(OPA1):c.1212+10T>C rs200114656
NM_015560.2(OPA1):c.1212+9A>G rs759086025
NM_015560.2(OPA1):c.1266C>G (p.Ser422Arg) rs1553877941
NM_015560.2(OPA1):c.1412T>C (p.Leu471Pro) rs1553878150
NM_015560.2(OPA1):c.1501G>A (p.Val501Ile) rs1553878564
NM_015560.2(OPA1):c.1516+3A>G rs1553878573
NM_015560.2(OPA1):c.1516+5G>A rs1553878576
NM_015560.2(OPA1):c.1608A>C (p.Ala536=) rs78767626
NM_015560.2(OPA1):c.1705+17A>G rs749368763
NM_015560.2(OPA1):c.1706-19A>C rs1057522968
NM_015560.2(OPA1):c.1770+16T>G rs9831772
NM_015560.2(OPA1):c.1770+3A>G rs398124300
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.1847+7A>G rs767488490
NM_015560.2(OPA1):c.1863A>G (p.Gln621=) rs773826671
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.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.2167-19C>A rs77355463
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.2276-13T>A rs773828534
NM_015560.2(OPA1):c.2276-4dup rs761286590
NM_015560.2(OPA1):c.2355+13A>G rs371943802
NM_015560.2(OPA1):c.239A>G (p.Tyr80Cys)
NM_015560.2(OPA1):c.2427T>C (p.Leu809=) rs145999595
NM_015560.2(OPA1):c.254G>A (p.Arg85His) rs35630194
NM_015560.2(OPA1):c.2613+11C>G rs111688935
NM_015560.2(OPA1):c.2647A>G (p.Ile883Val) rs149866497
NM_015560.2(OPA1):c.2707+15G>C rs199763700
NM_015560.2(OPA1):c.2715A>G (p.Arg905=) rs144898877
NM_015560.2(OPA1):c.2796C>T (p.Arg932=) rs35540805
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.2819-4A>G rs184273607
NM_015560.2(OPA1):c.32+14C>T rs201927764
NM_015560.2(OPA1):c.321G>A (p.Ser107=) rs117888848
NM_015560.2(OPA1):c.344C>T (p.Ala115Val) rs200983556
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.448+50A>G rs377239493
NM_015560.2(OPA1):c.449-21A>G rs75213840
NM_015560.2(OPA1):c.473G>A (p.Ser158Asn) rs7624750
NM_015560.2(OPA1):c.534A>G (p.Leu178=) rs758901451
NM_015560.2(OPA1):c.557-19T>C rs3772393
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.6-13T>C rs1243357575
NM_015560.2(OPA1):c.625-5527G>T rs373326620
NM_015560.2(OPA1):c.625-5528C>T rs114348597
NM_015560.2(OPA1):c.679-4G>A rs377043223
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.870+32T>C rs10451941
NM_015560.2(OPA1):c.870+37A>C rs76253392
NM_015560.2(OPA1):c.870+4T>C rs166850
NM_015560.2(OPA1):c.871-6G>A rs1553876585
NM_015560.2(OPA1):c.871-8G>T rs367618769
NM_015560.2(OPA1):c.872T>A (p.Val291Asp) rs1553876592
NM_015560.2(OPA1):c.88C>T (p.Leu30=) rs185976555
NM_130837.2(OPA1):c.748G>A (p.Ala250Thr) rs143918255

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