ClinVar Miner

List of variants in gene OPA1 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP
NC_000003.11:g.193363516delG
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_015560.2(OPA1):c.1071A>G (p.Ala357=) rs150807064
NM_015560.2(OPA1):c.1089A>T (p.Ile363=) rs1577240973
NM_015560.2(OPA1):c.1137T>G (p.Pro379=) rs139861334
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.1212+10T>C rs200114656
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_015560.2(OPA1):c.1608A>C (p.Ala536=) rs78767626
NM_015560.2(OPA1):c.1705+17A>G rs749368763
NM_015560.2(OPA1):c.1770+16T>G rs9831772
NM_015560.2(OPA1):c.1771-9A>G rs367798637
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.2007A>G (p.Ala669=) rs1577287619
NM_015560.2(OPA1):c.2109T>C (p.Ala703=) rs9851685
NM_015560.2(OPA1):c.2167-19C>A rs77355463
NM_015560.2(OPA1):c.2220A>G (p.Gln740=) rs772177326
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.2275+7G>A rs1460816557
NM_015560.2(OPA1):c.239A>G (p.Tyr80Cys) rs151103940
NM_015560.2(OPA1):c.2454G>A (p.Arg818=) rs1577319844
NM_015560.2(OPA1):c.253C>T (p.Arg85Cys) rs372435892
NM_015560.2(OPA1):c.2595G>A (p.Arg865=) rs1192362976
NM_015560.2(OPA1):c.2613+11C>G rs111688935
NM_015560.2(OPA1):c.2707+15G>C rs199763700
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
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.2819-4A>G rs184273607
NM_015560.2(OPA1):c.321G>A (p.Ser107=) rs117888848
NM_015560.2(OPA1):c.339C>T (p.Tyr113=) rs779836454
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.530G>T (p.Ser177Ile) rs150279202
NM_015560.2(OPA1):c.556+534G>A rs535724954
NM_015560.2(OPA1):c.557-19T>C rs3772393
NM_015560.2(OPA1):c.575C>T (p.Ala192Val) rs34307082
NM_015560.2(OPA1):c.625-5443A>G rs375963561
NM_015560.2(OPA1):c.625-5451G>A rs143918255
NM_015560.2(OPA1):c.625-5484A>T rs1407152640
NM_015560.2(OPA1):c.625-5514C>A rs764955203
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.784-12_784-11insTA rs544490050
NM_015560.2(OPA1):c.85C>G (p.Pro29Ala) rs145565705
NM_015560.2(OPA1):c.88C>T (p.Leu30=) rs185976555
NM_015560.2(OPA1):c.933T>C (p.Ala311=) rs779030198
NM_130837.3(OPA1):c.1035+4T>C rs166850
NM_130837.3(OPA1):c.1149+12G>A
NM_130837.3(OPA1):c.1149+15C>T
NM_130837.3(OPA1):c.124C>T (p.His42Tyr)
NM_130837.3(OPA1):c.1293C>T (p.Thr431=)
NM_130837.3(OPA1):c.1306-10T>C
NM_130837.3(OPA1):c.1585A>G (p.Lys529Glu)
NM_130837.3(OPA1):c.1682-16del
NM_130837.3(OPA1):c.1719T>C (p.Tyr573=)
NM_130837.3(OPA1):c.1935+18G>A
NM_130837.3(OPA1):c.1936-13_1936-12del
NM_130837.3(OPA1):c.2013-1G>A
NM_130837.3(OPA1):c.2095A>G (p.Met699Val)
NM_130837.3(OPA1):c.2197del (p.Gln733fs)
NM_130837.3(OPA1):c.2350G>A (p.Ala784Thr)
NM_130837.3(OPA1):c.246C>T (p.Tyr82=)
NM_130837.3(OPA1):c.2521-16T>A
NM_130837.3(OPA1):c.2577G>A (p.Glu859=)
NM_130837.3(OPA1):c.278T>C (p.Leu93Ser)
NM_130837.3(OPA1):c.832del (p.Leu278fs)
NM_130837.3(OPA1):c.838A>G (p.Thr280Ala)
NM_130837.3(OPA1):c.844-20C>A
NM_130837.3(OPA1):c.869G>A (p.Arg290Gln)
NM_130837.3(OPA1):c.977T>C (p.Val326Ala)

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