ClinVar Miner

List of variants in gene OPA1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
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.1035+32T>C rs10451941 0.44363
NM_130837.3(OPA1):c.1935+16T>G rs9831772 0.07649
NM_130837.3(OPA1):c.2778+11C>G rs111688935 0.03759
NM_130837.3(OPA1):c.449-21A>G rs75213840 0.02640
NM_130837.3(OPA1):c.1035+37A>C rs76253392 0.02623
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.679-8C>T rs114348597 0.00589
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_130837.3(OPA1):c.1342A>C (p.Arg448=) rs149752576 0.00229
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_130837.3(OPA1):c.2332-19C>A rs77355463 0.00155
NM_130837.3(OPA1):c.2872+15G>C rs199763700 0.00136
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys) rs151103940 0.00116
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_130837.3(OPA1):c.32+14C>T rs201927764 0.00054
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) rs139861334 0.00050
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00041
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00039
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_130837.3(OPA1):c.2441-4dup rs761286590 0.00019
NM_130837.3(OPA1):c.88C>T (p.Leu30=) rs185976555 0.00019
NM_130837.3(OPA1):c.1293C>T (p.Thr431=) rs111488647 0.00016
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_130837.3(OPA1):c.1377+10T>C rs200114656 0.00006
NM_130837.3(OPA1):c.2331+10T>C rs371096629 0.00005
NM_130837.3(OPA1):c.844-4G>A rs377043223 0.00005
NM_130837.3(OPA1):c.1036-8G>T rs367618769 0.00004
NM_130837.3(OPA1):c.2520+13A>G rs371943802 0.00004
NM_130837.3(OPA1):c.534A>G (p.Leu178=) rs758901451 0.00004
NM_130837.3(OPA1):c.448+50A>G rs377239493 0.00003
NM_130837.3(OPA1):c.611-9A>G rs372157755 0.00003
NM_130837.3(OPA1):c.2812A>G (p.Ile938Val) rs149866497 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_130837.3(OPA1):c.838A>G (p.Thr280Ala) rs774668971 0.00002
NM_130837.3(OPA1):c.*6-13T>C rs1243357575 0.00001
NM_130837.3(OPA1):c.-10C>T rs775614028 0.00001
NM_130837.3(OPA1):c.1377+9A>G rs759086025 0.00001
NM_130837.3(OPA1):c.2012+7A>G rs767488490 0.00001
NM_130837.3(OPA1):c.205C>G (p.Pro69Ala) rs750775588 0.00001
NM_130837.3(OPA1):c.2228C>T (p.Pro743Leu) rs746579947 0.00001
NM_130837.3(OPA1):c.2229G>A (p.Pro743=) rs768448865 0.00001
NM_130837.3(OPA1):c.302G>A (p.Arg101His) rs201856560 0.00001
NM_130837.3(OPA1):c.312A>G (p.Ile104Met) rs755117948 0.00001
NM_130837.3(OPA1):c.-11C>G rs568049951
NM_130837.3(OPA1):c.1036-6G>A rs1553876585
NM_130837.3(OPA1):c.1037T>A (p.Val346Asp) rs1553876592
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1189A>G (p.Lys397Glu) rs1057517999
NM_130837.3(OPA1):c.1230T>C (p.Asp410=)
NM_130837.3(OPA1):c.1431C>G (p.Ser477Arg) rs1553877941
NM_130837.3(OPA1):c.1577T>C (p.Leu526Pro) rs1553878150
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_130837.3(OPA1):c.1681+5G>A rs1553878576
NM_130837.3(OPA1):c.1871-19A>C rs1057522968
NM_130837.3(OPA1):c.1916G>T (p.Arg639Leu)
NM_130837.3(OPA1):c.1935+17C>T
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_130837.3(OPA1):c.1936-21_1936-18del rs765277368
NM_130837.3(OPA1):c.2143T>C (p.Trp715Arg) rs1553881180
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del) rs755591067
NM_130837.3(OPA1):c.2441-13T>A rs773828534
NM_130837.3(OPA1):c.288A>T (p.Arg96Ser)
NM_130837.3(OPA1):c.2973G>C (p.Ala991=) rs117475774
NM_130837.3(OPA1):c.379C>A (p.Pro127Thr)
NM_130837.3(OPA1):c.52G>C (p.Val18Leu) rs2108864324
NM_130837.3(OPA1):c.581T>C (p.Ile194Thr)
NM_130837.3(OPA1):c.611-19T>C rs3772393
NM_130837.3(OPA1):c.679-7G>T rs373326620

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