ClinVar Miner

List of variants in gene OPA1 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.222A>T (p.Lys74Asn) rs114157340 0.00029
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe) rs200243596 0.00022
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp) rs189036094 0.00021
NM_130837.3(OPA1):c.1700T>C (p.Ile567Thr) rs148834015 0.00018
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp) rs190235251 0.00017
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile) rs150279202 0.00016
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln) rs200412464 0.00008
NM_130837.3(OPA1):c.1877G>A (p.Arg626His) rs140606054 0.00006
NM_130837.3(OPA1):c.1934G>A (p.Arg645Gln) rs147077380 0.00006
NM_130837.3(OPA1):c.2544T>A (p.Asn848Lys) rs758248456 0.00005
NM_130837.3(OPA1):c.737C>T (p.Ala246Val) rs147094219 0.00005
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met) rs141326740 0.00004
NM_130837.3(OPA1):c.1094A>G (p.Gln365Arg) rs770966290 0.00004
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu) rs772090345 0.00004
NM_130837.3(OPA1):c.619G>A (p.Glu207Lys) rs569675223 0.00004
NM_130837.3(OPA1):c.1193A>C (p.Asp398Ala) rs756981921 0.00003
NM_130837.3(OPA1):c.187T>A (p.Ser63Thr) rs777179811 0.00003
NM_130837.3(OPA1):c.2045G>A (p.Arg682Lys) rs772040791 0.00003
NM_130837.3(OPA1):c.542A>G (p.Asp181Gly) rs138884045 0.00003
NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp) rs146003075 0.00002
NM_130837.3(OPA1):c.1391G>A (p.Gly464Asp) rs752296610 0.00002
NM_130837.3(OPA1):c.1690T>C (p.Ser564Pro) rs1467607281 0.00002
NM_130837.3(OPA1):c.215A>C (p.Lys72Thr) rs532878175 0.00002
NM_130837.3(OPA1):c.2644G>A (p.Glu882Lys) rs765208285 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys) rs530896300 0.00002
NM_130837.3(OPA1):c.740G>A (p.Arg247His) rs138350727 0.00002
NM_130837.3(OPA1):c.964A>G (p.Met322Val) rs938874214 0.00002
NM_130837.3(OPA1):c.*5+1G>T rs1250028962 0.00001
NM_130837.3(OPA1):c.1100G>A (p.Arg367Gln) rs372878876 0.00001
NM_130837.3(OPA1):c.1135C>T (p.Arg379Cys) rs552243068 0.00001
NM_130837.3(OPA1):c.113G>A (p.Arg38Gln) rs866025924 0.00001
NM_130837.3(OPA1):c.1168C>T (p.Pro390Ser) rs1057524630 0.00001
NM_130837.3(OPA1):c.1347G>A (p.Met449Ile) rs377726977 0.00001
NM_130837.3(OPA1):c.2006A>T (p.Lys669Ile) rs146601330 0.00001
NM_130837.3(OPA1):c.212G>A (p.Arg71His) rs766106312 0.00001
NM_130837.3(OPA1):c.2168A>C (p.Lys723Thr) rs1713442826 0.00001
NM_130837.3(OPA1):c.2212C>T (p.Arg738Cys) rs1714040834 0.00001
NM_130837.3(OPA1):c.2348A>G (p.Asn783Ser) rs749143995 0.00001
NM_130837.3(OPA1):c.2429G>A (p.Arg810His) rs762258708 0.00001
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp) rs143252541 0.00001
NM_130837.3(OPA1):c.2618G>A (p.Arg873Gln) rs954754062 0.00001
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg) rs139106405 0.00001
NM_130837.3(OPA1):c.3017C>G (p.Ala1006Gly) rs577055148 0.00001
NM_130837.3(OPA1):c.464C>T (p.Ala155Val) rs751318725 0.00001
NM_130837.3(OPA1):c.49T>A (p.Leu17Ile) rs760770105 0.00001
NM_130837.3(OPA1):c.517G>A (p.Val173Ile) rs778997114 0.00001
NM_130837.3(OPA1):c.590C>G (p.Ser197Cys) rs1729303601 0.00001
NM_130837.3(OPA1):c.626C>T (p.Thr209Met) rs772596317 0.00001
NM_130837.3(OPA1):c.661G>A (p.Asp221Asn) rs367814426 0.00001
NM_130837.3(OPA1):c.821A>G (p.Gln274Arg) rs1258694003 0.00001
NM_130837.3(OPA1):c.860T>C (p.Ile287Thr) rs951002467 0.00001
NM_130837.3(OPA1):c.89T>C (p.Leu30Pro) rs758056583 0.00001
NM_130837.3(OPA1):c.902T>C (p.Leu301Ser) rs1488795500 0.00001
NM_130837.3(OPA1):c.1006A>C (p.Ser336Arg)
NM_130837.3(OPA1):c.1007G>A (p.Ser336Asn)
NM_130837.3(OPA1):c.1019A>C (p.Gln340Pro)
NM_130837.3(OPA1):c.1035+3A>G
NM_130837.3(OPA1):c.1036-6G>A rs1553876585
NM_130837.3(OPA1):c.106G>C (p.Val36Leu)
NM_130837.3(OPA1):c.1135C>G (p.Arg379Gly)
NM_130837.3(OPA1):c.1189A>G (p.Lys397Glu) rs1057517999
NM_130837.3(OPA1):c.1228G>T (p.Asp410Tyr)
NM_130837.3(OPA1):c.1288T>C (p.Cys430Arg)
NM_130837.3(OPA1):c.1411G>A (p.Glu471Lys)
NM_130837.3(OPA1):c.1590T>A (p.Asn530Lys) rs863224137
NM_130837.3(OPA1):c.1639C>A (p.Pro547Thr) rs2109057610
NM_130837.3(OPA1):c.1715A>T (p.Glu572Val)
NM_130837.3(OPA1):c.1737G>C (p.Gln579His) rs538099724
NM_130837.3(OPA1):c.193C>G (p.Leu65Val)
NM_130837.3(OPA1):c.1985G>A (p.Ser662Asn) rs2109083949
NM_130837.3(OPA1):c.1996G>A (p.Val666Ile) rs200756304
NM_130837.3(OPA1):c.2013-10_2013-8del rs781060459
NM_130837.3(OPA1):c.2057A>G (p.His686Arg)
NM_130837.3(OPA1):c.2084C>T (p.Ala695Val) rs2109139144
NM_130837.3(OPA1):c.2097G>A (p.Met699Ile)
NM_130837.3(OPA1):c.2132A>C (p.Lys711Thr) rs2109139390
NM_130837.3(OPA1):c.2143T>C (p.Trp715Arg) rs1553881180
NM_130837.3(OPA1):c.2149G>T (p.Asp717Tyr) rs1379001496
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del) rs755591067
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_130837.3(OPA1):c.2303A>G (p.Lys768Arg) rs2109164239
NM_130837.3(OPA1):c.2395G>A (p.Ala799Thr) rs2109186848
NM_130837.3(OPA1):c.2502G>T (p.Lys834Asn) rs2109193504
NM_130837.3(OPA1):c.2569A>G (p.Asn857Asp) rs2109231506
NM_130837.3(OPA1):c.2661+4A>C
NM_130837.3(OPA1):c.272C>G (p.Ala91Gly) rs1085307621
NM_130837.3(OPA1):c.2840A>C (p.Asn947Thr) rs750518068
NM_130837.3(OPA1):c.2873-10C>G rs2109277041
NM_130837.3(OPA1):c.2885A>G (p.Glu962Gly) rs863224138
NM_130837.3(OPA1):c.2902G>A (p.Val968Ile) rs863224139
NM_130837.3(OPA1):c.2902G>T (p.Val968Leu) rs863224139
NM_130837.3(OPA1):c.3040G>C (p.Glu1014Gln) rs2109460771
NM_130837.3(OPA1):c.305A>C (p.Tyr102Ser) rs530896300
NM_130837.3(OPA1):c.417T>G (p.Ile139Met) rs1446797783
NM_130837.3(OPA1):c.418G>A (p.Val140Met)
NM_130837.3(OPA1):c.442G>A (p.Asp148Asn)
NM_130837.3(OPA1):c.446T>G (p.Phe149Cys) rs2108869401
NM_130837.3(OPA1):c.516T>G (p.Ile172Met) rs863224126
NM_130837.3(OPA1):c.576A>T (p.Glu192Asp) rs2108882278
NM_130837.3(OPA1):c.696C>T (p.Leu232=) rs375209295
NM_130837.3(OPA1):c.712C>G (p.Gln238Glu) rs1131691832
NM_130837.3(OPA1):c.722A>G (p.Glu241Gly)
NM_130837.3(OPA1):c.739C>T (p.Arg247Cys)
NM_130837.3(OPA1):c.785G>A (p.Arg262His) rs201202646
NM_130837.3(OPA1):c.794C>T (p.Ser265Leu) rs1553875179

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