ClinVar Miner

List of variants in gene OPA1 reported by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_001354663.2(OPA1):c.-81_-72del rs794727289
NM_015560.2(OPA1):c.1071A>G (p.Ala357=) rs150807064
NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter) rs104893753
NM_015560.2(OPA1):c.1140+1G>A rs745927258
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.1177A>C (p.Arg393=) rs149752576
NM_015560.2(OPA1):c.1199C>T (p.Pro400Leu) rs794727069
NM_015560.2(OPA1):c.1212+5_1212+6delinsTC rs797044639
NM_015560.2(OPA1):c.1224dup (p.Gly409fs) rs1553877912
NM_015560.2(OPA1):c.1233T>C (p.Ala411=) rs886043473
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.1334G>A (p.Arg445His) rs80356529
NM_015560.2(OPA1):c.1352del (p.Leu451fs) rs398124297
NM_015560.2(OPA1):c.1380_1382del (p.Arg461del) rs1199056091
NM_015560.2(OPA1):c.1516+23A>G rs200416825
NM_015560.2(OPA1):c.1531delinsTTC (p.Ser511fs) rs1553878647
NM_015560.2(OPA1):c.1590-6dup rs748933560
NM_015560.2(OPA1):c.1608A>C (p.Ala536=) rs78767626
NM_015560.2(OPA1):c.1635C>A (p.Ser545Arg) rs398124298
NM_015560.2(OPA1):c.1669C>T (p.Arg557Ter) rs398124299
NM_015560.2(OPA1):c.1712G>A (p.Arg571His) rs140606054
NM_015560.2(OPA1):c.1770+16T>G rs9831772
NM_015560.2(OPA1):c.1770+3A>G rs398124300
NM_015560.2(OPA1):c.1771-2A>G rs747454971
NM_015560.2(OPA1):c.1781T>C (p.Phe594Ser) rs886042514
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.2013+1G>A rs1560392160
NM_015560.2(OPA1):c.2059_2060del (p.Glu687fs) rs794727345
NM_015560.2(OPA1):c.2109T>C (p.Ala703=) rs9851685
NM_015560.2(OPA1):c.2124_2141del (p.Ser708_Trp714delinsArg) rs886043383
NM_015560.2(OPA1):c.2167-19C>A rs77355463
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.2257C>T (p.Gln753Ter) rs398124301
NM_015560.2(OPA1):c.2276-4C>G rs763386320
NM_015560.2(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_015560.2(OPA1):c.2355+13A>G rs371943802
NM_015560.2(OPA1):c.2382_2383del (p.Glu794fs) rs1560041195
NM_015560.2(OPA1):c.239A>G (p.Tyr80Cys) rs151103940
NM_015560.2(OPA1):c.2445C>T (p.Thr815=) rs139934030
NM_015560.2(OPA1):c.2496+1G>T rs794727392
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.2569C>T (p.Arg857Ter) rs794727405
NM_015560.2(OPA1):c.2613+11C>G rs111688935
NM_015560.2(OPA1):c.2651dup (p.Arg885fs) rs886043317
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2796C>T (p.Arg932=) rs35540805
NM_015560.2(OPA1):c.2822_2823del (p.Lys941fs) rs886043136
NM_015560.2(OPA1):c.2862A>C (p.Glu954Asp) rs189036094
NM_015560.2(OPA1):c.2883A>C (p.Ter961Tyr) rs143929819
NM_015560.2(OPA1):c.321G>A (p.Ser107=) rs117888848
NM_015560.2(OPA1):c.33-8T>C rs370303596
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.556+546_556+547del rs886043124
NM_015560.2(OPA1):c.557-19T>C rs3772393
NM_015560.2(OPA1):c.557-668G>A rs983041061
NM_015560.2(OPA1):c.557-672G>A rs1553872542
NM_015560.2(OPA1):c.575C>T (p.Ala192Val) rs34307082
NM_015560.2(OPA1):c.624+2T>G rs1553872742
NM_015560.2(OPA1):c.625-4T>A rs374509936
NM_015560.2(OPA1):c.625-5528C>T rs114348597
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.85C>G (p.Pro29Ala) rs145565705
NM_015560.2(OPA1):c.869G>A (p.Arg290Gln) rs121908375
NM_015560.2(OPA1):c.870+1G>A rs727504059
NM_015560.2(OPA1):c.870+32T>C rs10451941
NM_015560.2(OPA1):c.870+37A>C rs76253392
NM_015560.2(OPA1):c.932C>A (p.Ala311Asp) rs398124302
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) rs398124303
NM_015560.2(OPA1):c.984G>T (p.Lys328Asn) rs1560365123
NM_015560.2(OPA1):c.985-2A>G rs886041317
NM_130831.3(OPA1):c.1079T>G (p.Leu360Arg) rs727504060
NM_130831.3(OPA1):c.2717_2720del (p.Val906fs) rs879255560
NM_130831.3(OPA1):c.448+1490C>A rs727504057
NM_130831.3(OPA1):c.448+1492T>A rs727504058
NM_130831.3(OPA1):c.527_528del (p.Lys176fs) rs794727804
NM_130837.2(OPA1):c.245A>G (p.Tyr82Cys) rs749063844
NM_130837.3(OPA1):c.1035+4T>C rs166850
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.804_805del (p.Lys269fs) rs863224142

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