ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 12 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 289
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HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80823
NM_001008212.2(OPTN):c.369+39T>G rs79529484 0.22121
NM_001008212.2(OPTN):c.166+66A>G rs10906303 0.20691
NM_001008212.2(OPTN):c.102G>A (p.Thr34=) rs2234968 0.19474
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_001008212.2(OPTN):c.626+24G>A rs11258211 0.03152
NM_001008212.2(OPTN):c.627-10T>C rs80327830 0.00853
NM_001008212.2(OPTN):c.123G>A (p.Leu41=) rs11591687 0.00729
NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys) rs523747 0.00719
NM_001008212.2(OPTN):c.553-10G>A rs11258210 0.00492
NM_001008212.2(OPTN):c.876G>A (p.Pro292=) rs151065414 0.00118
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_001008212.2(OPTN):c.779+20G>A rs79733653 0.00095
NM_001008212.2(OPTN):c.1148+13A>G rs368654623 0.00061
NM_001008212.2(OPTN):c.1612+10G>A rs191671333 0.00053
NM_001008212.2(OPTN):c.147C>T (p.Thr49=) rs187734249 0.00045
NM_001008212.2(OPTN):c.606G>A (p.Thr202=) rs143437860 0.00038
NM_001008212.2(OPTN):c.777A>T (p.Glu259Asp) rs532842754 0.00035
NM_001008212.2(OPTN):c.1396G>T (p.Ala466Ser) rs144466778 0.00034
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His) rs200088838 0.00033
NM_001008212.2(OPTN):c.909C>A (p.Asn303Lys) rs200114679 0.00015
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys) rs140599944 0.00014
NM_001008212.2(OPTN):c.779+10A>G rs200899194 0.00011
NM_001008212.2(OPTN):c.1401+4A>G rs371470839 0.00009
NM_001008212.2(OPTN):c.883-17G>T rs561692004 0.00009
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) rs142812715 0.00007
NM_001008212.2(OPTN):c.1401+21C>G rs553828705 0.00006
NM_001008212.2(OPTN):c.263T>C (p.Ile88Thr) rs760492259 0.00006
NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala) rs750995656 0.00006
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) rs377219791 0.00004
NM_001008212.2(OPTN):c.1588C>A (p.Gln530Lys) rs759605171 0.00004
NM_001008212.2(OPTN):c.1618G>C (p.Glu540Gln) rs577097767 0.00004
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) rs774258585 0.00004
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) rs757411888 0.00004
NM_001008212.2(OPTN):c.597T>C (p.Pro199=) rs373699827 0.00004
NM_001008212.2(OPTN):c.883-9G>A rs372118360 0.00004
NM_001008212.2(OPTN):c.1533-10G>A rs202006990 0.00003
NM_001008212.2(OPTN):c.1533-3C>T rs373981784 0.00003
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696 0.00003
NM_001008212.2(OPTN):c.1643G>A (p.Arg548Gln) rs550042475 0.00003
NM_001008212.2(OPTN):c.1713C>T (p.His571=) rs187326591 0.00003
NM_001008212.2(OPTN):c.219G>A (p.Ser73=) rs1430621754 0.00003
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val) rs202044898 0.00003
NM_001008212.2(OPTN):c.448C>T (p.Leu150=) rs768270236 0.00003
NM_001008212.2(OPTN):c.799A>G (p.Lys267Glu) rs780122817 0.00003
NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys) rs540943401 0.00003
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter) rs934287314 0.00002
NM_001008212.2(OPTN):c.1312G>A (p.Ala438Thr) rs768591421 0.00002
NM_001008212.2(OPTN):c.1324C>T (p.Leu442=) rs367641761 0.00002
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val) rs900961302 0.00002
NM_001008212.2(OPTN):c.1428T>C (p.His476=) rs767738080 0.00002
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln) rs757107215 0.00002
NM_001008212.2(OPTN):c.287G>A (p.Arg96His) rs184561087 0.00002
NM_001008212.2(OPTN):c.407C>T (p.Ala136Val) rs764364218 0.00002
NM_001008212.2(OPTN):c.480C>T (p.Ile160=) rs146593599 0.00002
NM_001008212.2(OPTN):c.513C>T (p.Ser171=) rs369760173 0.00002
NM_001008212.2(OPTN):c.626+5del rs776938424 0.00002
NM_001008212.2(OPTN):c.718C>T (p.Leu240=) rs372486382 0.00002
NM_001008212.2(OPTN):c.882+3G>A rs761196996 0.00002
NM_001008212.2(OPTN):c.1038A>T (p.Ser346=) rs181131178 0.00001
NM_001008212.2(OPTN):c.1149-2A>G rs867368757 0.00001
NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala) rs751226367 0.00001
NM_001008212.2(OPTN):c.1372C>T (p.Leu458=) rs760304751 0.00001
NM_001008212.2(OPTN):c.1490C>G (p.Ala497Gly) rs956159636 0.00001
NM_001008212.2(OPTN):c.1612+9C>T rs763985749 0.00001
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp) rs774245711 0.00001
NM_001008212.2(OPTN):c.177G>C (p.Lys59Asn) rs1487584331 0.00001
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) rs756622651 0.00001
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442 0.00001
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 0.00001
NM_001008212.2(OPTN):c.46C>G (p.Pro16Ala) rs758942502 0.00001
NM_001008212.2(OPTN):c.481G>A (p.Val161Met) rs776058639 0.00001
NM_001008212.2(OPTN):c.528T>C (p.Asp176=) rs754892837 0.00001
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met) rs199700857 0.00001
NM_001008212.2(OPTN):c.626+1G>A rs756957223 0.00001
NM_001008212.2(OPTN):c.626+4T>C rs1564360523 0.00001
NM_001008212.2(OPTN):c.676T>C (p.Phe226Leu) rs1189662370 0.00001
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr) rs775448931 0.00001
NM_001008212.2(OPTN):c.780-2A>C rs768117011 0.00001
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) rs750571210 0.00001
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp) rs143727251 0.00001
NM_001008212.2(OPTN):c.882+5G>C rs766398912 0.00001
NM_001008212.2(OPTN):c.891C>T (p.Ser297=) rs200169099 0.00001
NM_001008212.2(OPTN):c.910C>T (p.Leu304Phe) rs1833407652 0.00001
NM_001008212.2(OPTN):c.950A>G (p.His317Arg) rs747365111 0.00001
NC_000010.10:g.(?_12833157)_(13178866_?)del
NC_000010.10:g.(?_13151123)_(13154655_?)dup
NC_000010.10:g.(?_13151123)_(13158360_?)del
NC_000010.10:g.(?_13151123)_(13178866_?)del
NC_000010.10:g.(?_13152254)_(13161060_?)del
NC_000010.10:g.(?_13152353)_(13162081_?)del
NC_000010.10:g.(?_13154433)_(13161060_?)del
NC_000010.10:g.(?_13158247)_(13158360_?)del
NC_000010.10:g.(?_13158247)_(13169923_?)dup
NC_000010.10:g.(?_13160868)_(13161060_?)del
NC_000010.10:g.(?_13160868)_(13161060_?)dup
NC_000010.10:g.(?_13164365)_(13168059_?)del
NC_000010.11:g.(?_13109103)_(13136886_?)del
NC_000010.11:g.(?_13109113)_(13112645_?)del
NC_000010.11:g.(?_13109123)_(13183100_?)del
NC_000010.11:g.(?_13116257)_(13116350_?)del
NC_000010.11:g.(?_13118878)_(13119050_?)del
NC_000010.11:g.13122383AG[1] rs757559365
NM_001008212.2(OPTN):c.1006G>T (p.Ala336Ser) rs1248850820
NM_001008212.2(OPTN):c.101C>T (p.Thr34Met)
NM_001008212.2(OPTN):c.1022A>T (p.Asn341Ile)
NM_001008212.2(OPTN):c.1071T>C (p.Thr357=)
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008212.2(OPTN):c.1088T>C (p.Leu363Pro)
NM_001008212.2(OPTN):c.1103del (p.Met368fs)
NM_001008212.2(OPTN):c.1107A>G (p.Leu369=) rs149806984
NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu)
NM_001008212.2(OPTN):c.1128G>A (p.Gln376=)
NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu)
NM_001008212.2(OPTN):c.1149-13T>A
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)
NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)
NM_001008212.2(OPTN):c.1220T>C (p.Ile407Thr)
NM_001008212.2(OPTN):c.1229T>C (p.Leu410Pro)
NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs) rs774772178
NM_001008212.2(OPTN):c.1242+6C>T rs906152658
NM_001008212.2(OPTN):c.1243-11T>G
NM_001008212.2(OPTN):c.1243-4T>G
NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr)
NM_001008212.2(OPTN):c.1269G>A (p.Leu423=)
NM_001008212.2(OPTN):c.1289_1290del (p.Leu430fs)
NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val)
NM_001008212.2(OPTN):c.1304dup (p.Ala436fs) rs1588449569
NM_001008212.2(OPTN):c.1318_1334dup (p.Asp445fs)
NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg)
NM_001008212.2(OPTN):c.1320A>G (p.Lys440=)
NM_001008212.2(OPTN):c.1333G>C (p.Asp445His)
NM_001008212.2(OPTN):c.1340T>G (p.Met447Arg) rs1045159479
NM_001008212.2(OPTN):c.1352T>C (p.Ile451Thr)
NM_001008212.2(OPTN):c.1386C>T (p.Thr462=)
NM_001008212.2(OPTN):c.1401+1G>A rs1370982012
NM_001008212.2(OPTN):c.1401+9C>T
NM_001008212.2(OPTN):c.1402-11del
NM_001008212.2(OPTN):c.1402-3C>G rs1588452749
NM_001008212.2(OPTN):c.1402-7C>T
NM_001008212.2(OPTN):c.1443G>A (p.Ala481=)
NM_001008212.2(OPTN):c.1447G>C (p.Glu483Gln) rs2131528196
NM_001008212.2(OPTN):c.1456C>T (p.His486Tyr)
NM_001008212.2(OPTN):c.1457A>G (p.His486Arg)
NM_001008212.2(OPTN):c.1465A>G (p.Lys489Glu) rs1363384405
NM_001008212.2(OPTN):c.1468G>A (p.Glu490Lys)
NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg) rs1564354765
NM_001008212.2(OPTN):c.1509T>G (p.Asn503Lys)
NM_001008212.2(OPTN):c.1510G>T (p.Asp504Tyr)
NM_001008212.2(OPTN):c.1532+14A>G
NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)
NM_001008212.2(OPTN):c.1556G>A (p.Ser519Asn)
NM_001008212.2(OPTN):c.1558C>T (p.Arg520Cys)
NM_001008212.2(OPTN):c.1558dup (p.Arg520fs)
NM_001008212.2(OPTN):c.156C>T (p.His52=)
NM_001008212.2(OPTN):c.1583_1584del (p.Asp527_Ser528insTer) rs1446908199
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) rs1564354968
NM_001008212.2(OPTN):c.1612+17C>A
NM_001008212.2(OPTN):c.1612+17C>T
NM_001008212.2(OPTN):c.1613-13T>C
NM_001008212.2(OPTN):c.1613-1G>A
NM_001008212.2(OPTN):c.1613-3C>T rs2131534998
NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu) rs967459877
NM_001008212.2(OPTN):c.161T>A (p.Leu54Gln)
NM_001008212.2(OPTN):c.1627_1628delinsCT (p.Asp543Leu) rs2131535039
NM_001008212.2(OPTN):c.1636C>T (p.Gln546Ter)
NM_001008212.2(OPTN):c.1642C>A (p.Arg548=) rs767360238
NM_001008212.2(OPTN):c.1642C>T (p.Arg548Trp) rs767360238
NM_001008212.2(OPTN):c.1653G>T (p.Pro551=)
NM_001008212.2(OPTN):c.1666C>T (p.Pro556Ser)
NM_001008212.2(OPTN):c.1670A>C (p.Lys557Thr)
NM_001008212.2(OPTN):c.1670A>G (p.Lys557Arg)
NM_001008212.2(OPTN):c.1674T>C (p.Cys558=) rs1833710699
NM_001008212.2(OPTN):c.1688C>T (p.Pro563Leu)
NM_001008212.2(OPTN):c.1691A>G (p.Asp564Gly)
NM_001008212.2(OPTN):c.16C>T (p.Leu6Phe)
NM_001008212.2(OPTN):c.1704A>C (p.Leu568Phe)
NM_001008212.2(OPTN):c.1705C>T (p.Gln569Ter) rs1275810602
NM_001008212.2(OPTN):c.1714G>A (p.Val572Met)
NM_001008212.2(OPTN):c.1718T>C (p.Met573Thr) rs1564370960
NM_001008212.2(OPTN):c.1722T>C (p.Asp574=)
NM_001008212.2(OPTN):c.1724G>A (p.Cys575Tyr)
NM_001008212.2(OPTN):c.194T>C (p.Met65Thr)
NM_001008212.2(OPTN):c.200G>A (p.Gly67Glu)
NM_001008212.2(OPTN):c.213G>A (p.Glu71=)
NM_001008212.2(OPTN):c.226A>G (p.Thr76Ala)
NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)
NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)
NM_001008212.2(OPTN):c.254T>G (p.Phe85Cys)
NM_001008212.2(OPTN):c.261G>A (p.Glu87=) rs749333165
NM_001008212.2(OPTN):c.295G>T (p.Ala99Ser)
NM_001008212.2(OPTN):c.2T>A (p.Met1Lys)
NM_001008212.2(OPTN):c.309G>C (p.Glu103Asp)
NM_001008212.2(OPTN):c.352T>C (p.Ser118Pro)
NM_001008212.2(OPTN):c.358A>G (p.Arg120Gly)
NM_001008212.2(OPTN):c.368A>C (p.Glu123Ala)
NM_001008212.2(OPTN):c.369+11C>G
NM_001008212.2(OPTN):c.369+11C>T
NM_001008212.2(OPTN):c.369+12G>A
NM_001008212.2(OPTN):c.369+2T>C
NM_001008212.2(OPTN):c.370-13T>C rs1410187067
NM_001008212.2(OPTN):c.370-1G>A rs2131488754
NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)
NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro) rs369071606
NM_001008212.2(OPTN):c.38A>T (p.Glu13Val)
NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr) rs1269604352
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala) rs372714385
NM_001008212.2(OPTN):c.408G>A (p.Ala136=)
NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys)
NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs)
NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)
NM_001008212.2(OPTN):c.435C>T (p.Thr145=) rs1042488570
NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)
NM_001008212.2(OPTN):c.450dup (p.Gln151fs)
NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)
NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp) rs113811959
NM_001008212.2(OPTN):c.490C>T (p.Leu164=)
NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)
NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn)
NM_001008212.2(OPTN):c.523del (p.Glu175fs)
NM_001008212.2(OPTN):c.536T>A (p.Val179Asp)
NM_001008212.2(OPTN):c.552+11G>C rs1015367767
NM_001008212.2(OPTN):c.553-12C>T
NM_001008212.2(OPTN):c.553-17C>T
NM_001008212.2(OPTN):c.553-6_553-5delinsGT
NM_001008212.2(OPTN):c.582A>G (p.Glu194=)
NM_001008212.2(OPTN):c.589C>A (p.His197Asn)
NM_001008212.2(OPTN):c.591T>G (p.His197Gln)
NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg)
NM_001008212.2(OPTN):c.609A>T (p.Arg203Ser) rs1833208430
NM_001008212.2(OPTN):c.612A>G (p.Thr204=) rs1588441388
NM_001008212.2(OPTN):c.616T>G (p.Ser206Ala)
NM_001008212.2(OPTN):c.626+17T>A
NM_001008212.2(OPTN):c.626+18C>T
NM_001008212.2(OPTN):c.626C>T (p.Thr209Met)
NM_001008212.2(OPTN):c.627-16C>T
NM_001008212.2(OPTN):c.633G>A (p.Leu211=)
NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr) rs1450047435
NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys)
NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter)
NM_001008212.2(OPTN):c.666del (p.Lys223fs)
NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn)
NM_001008212.2(OPTN):c.675C>T (p.Tyr225=)
NM_001008212.2(OPTN):c.678C>T (p.Phe226=) rs560438634
NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys)
NM_001008212.2(OPTN):c.701G>A (p.Ser234Asn)
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
NM_001008212.2(OPTN):c.729G>T (p.Gly243=)
NM_001008212.2(OPTN):c.754G>C (p.Val252Leu) rs760339006
NM_001008212.2(OPTN):c.759A>C (p.Ala253=)
NM_001008212.2(OPTN):c.762C>T (p.Leu254=)
NM_001008212.2(OPTN):c.76C>A (p.His26Asn)
NM_001008212.2(OPTN):c.76C>G (p.His26Asp)
NM_001008212.2(OPTN):c.76del (p.His26fs) rs753966040
NM_001008212.2(OPTN):c.76dup (p.His26fs) rs753966040
NM_001008212.2(OPTN):c.779+8A>G
NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys)
NM_001008212.2(OPTN):c.780-1G>C rs759311192
NM_001008212.2(OPTN):c.780-3C>T
NM_001008212.2(OPTN):c.78C>T (p.His26=) rs1588433321
NM_001008212.2(OPTN):c.7C>T (p.His3Tyr)
NM_001008212.2(OPTN):c.804A>C (p.Thr268=)
NM_001008212.2(OPTN):c.822T>A (p.Ile274=) rs747912539
NM_001008212.2(OPTN):c.843C>T (p.Ser281=)
NM_001008212.2(OPTN):c.847G>C (p.Glu283Gln) rs1833371043
NM_001008212.2(OPTN):c.882+19C>T
NM_001008212.2(OPTN):c.882+20G>A
NM_001008212.2(OPTN):c.882+2_882+3del
NM_001008212.2(OPTN):c.882+5G>A
NM_001008212.2(OPTN):c.883-10C>T
NM_001008212.2(OPTN):c.883-6T>C rs1588446686
NM_001008212.2(OPTN):c.892G>A (p.Glu298Lys) rs1833407271
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) rs786205611
NM_001008212.2(OPTN):c.924T>G (p.Ser308=)
NM_001008212.2(OPTN):c.949C>G (p.His317Asp) rs1387105883
NM_001008212.2(OPTN):c.94C>T (p.Leu32=)
NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg)
NM_001008212.2(OPTN):c.964= (p.Glu322=)
NM_001008212.2(OPTN):c.97G>C (p.Asp33His)
NM_001008212.2(OPTN):c.980A>G (p.Lys327Arg)
NM_001008212.2(OPTN):c.985A>G (p.Arg329Gly) rs1564364468
NM_001008212.2(OPTN):c.986_990del (p.Arg329fs) rs778911925
NM_001008212.2(OPTN):c.998+18A>G rs1833410378
NM_001008212.2(OPTN):c.998+19T>C rs1833410442
NM_001008212.2(OPTN):c.999-16T>C
NM_001008212.2(OPTN):c.999-20G>A

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