ClinVar Miner

List of variants in gene OPTN reported as uncertain significance for amyotrophic lateral sclerosis type 12

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.*1063C>A rs530046832 0.00131
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001008212.2(OPTN):c.*461G>A rs541250740 0.00081
NM_001008212.2(OPTN):c.*1285T>C rs560947786 0.00057
NM_001008212.2(OPTN):c.1396G>T (p.Ala466Ser) rs144466778 0.00034
NM_001008212.2(OPTN):c.*1385T>C rs546352206 0.00017
NM_001008212.2(OPTN):c.*413G>A rs886046825 0.00017
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys) rs140599944 0.00014
NM_001008212.2(OPTN):c.1401+4A>G rs371470839 0.00009
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) rs142812715 0.00007
NM_001008212.2(OPTN):c.*218G>C rs886046824 0.00006
NM_001008212.2(OPTN):c.573A>G (p.Ser191=) rs773095721 0.00006
NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala) rs750995656 0.00006
NM_001008212.2(OPTN):c.*1089G>A rs758812707 0.00005
NM_001008212.2(OPTN):c.*1251C>G rs542617940 0.00004
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.425A>C (p.Gln142Pro) rs757411888 0.00004
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.799A>G (p.Lys267Glu) rs780122817 0.00003
NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys) rs540943401 0.00003
NM_001008212.2(OPTN):c.812G>A (p.Arg271His) rs201896586 0.00003
NM_001008212.2(OPTN):c.1312G>A (p.Ala438Thr) rs768591421 0.00002
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val) rs900961302 0.00002
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln) rs757107215 0.00002
NM_001008212.2(OPTN):c.407C>T (p.Ala136Val) rs764364218 0.00002
NM_001008212.2(OPTN):c.626+5del rs776938424 0.00002
NM_001008212.2(OPTN):c.882+3G>A rs761196996 0.00002
NM_001008212.2(OPTN):c.*1111A>C rs962236225 0.00001
NM_001008212.2(OPTN):c.*222G>C rs1451563043 0.00001
NM_001008212.2(OPTN):c.*306G>A rs538280633 0.00001
NM_001008212.2(OPTN):c.*335C>T rs1251482519 0.00001
NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala) rs751226367 0.00001
NM_001008212.2(OPTN):c.1490C>G (p.Ala497Gly) rs956159636 0.00001
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp) rs774245711 0.00001
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys) rs1269604352 0.00001
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442 0.00001
NM_001008212.2(OPTN):c.481G>A (p.Val161Met) rs776058639 0.00001
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met) rs199700857 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.867G>C (p.Glu289Asp) rs143727251 0.00001
NM_001008212.2(OPTN):c.882+5G>C rs766398912 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.(?_13151123)_(13154655_?)dup
NC_000010.10:g.(?_13158247)_(13169923_?)dup
NC_000010.10:g.(?_13160868)_(13161060_?)del
NC_000010.10:g.(?_13160868)_(13161060_?)dup
NC_000010.11:g.(?_13118878)_(13119050_?)del
NM_001008212.2(OPTN):c.*1042T>G rs886046827
NM_001008212.2(OPTN):c.*386C>A rs745564491
NM_001008212.2(OPTN):c.*631A>G rs1833724733
NM_001008212.2(OPTN):c.*938C>G rs886046826
NM_001008212.2(OPTN):c.1006G>T (p.Ala336Ser) rs1248850820
NM_001008212.2(OPTN):c.1022A>T (p.Asn341Ile)
NM_001008212.2(OPTN):c.1088T>C (p.Leu363Pro)
NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu)
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.1242+6C>T rs906152658
NM_001008212.2(OPTN):c.1243-9C>A rs1833497674
NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr)
NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val)
NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg)
NM_001008212.2(OPTN):c.1333G>C (p.Asp445His)
NM_001008212.2(OPTN):c.1340T>G (p.Met447Arg) rs1045159479
NM_001008212.2(OPTN):c.1342A>G (p.Lys448Glu)
NM_001008212.2(OPTN):c.1352T>C (p.Ile451Thr)
NM_001008212.2(OPTN):c.1402-3C>G rs1588452749
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) rs886046821
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.1509T>G (p.Asn503Lys)
NM_001008212.2(OPTN):c.1510G>T (p.Asp504Tyr)
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.1583_1584del (p.Asp527_Ser528insTer) rs1446908199
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.1627_1628delinsCT (p.Asp543Leu) rs2131535039
NM_001008212.2(OPTN):c.1636C>T (p.Gln546Ter)
NM_001008212.2(OPTN):c.1642C>T (p.Arg548Trp) rs767360238
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.1688C>T (p.Pro563Leu)
NM_001008212.2(OPTN):c.1691A>G (p.Asp564Gly)
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.1724G>A (p.Cys575Tyr)
NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)
NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro) rs369071606
NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr) rs1269604352
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.412C>A (p.Gln138Lys)
NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)
NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)
NM_001008212.2(OPTN):c.441G>A (p.Val147=) rs886046819
NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)
NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp) rs113811959
NM_001008212.2(OPTN):c.536T>A (p.Val179Asp)
NM_001008212.2(OPTN):c.553-6_553-5delinsGT
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.616T>G (p.Ser206Ala)
NM_001008212.2(OPTN):c.626C>T (p.Thr209Met)
NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr) rs1450047435
NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys)
NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn)
NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys)
NM_001008212.2(OPTN):c.701G>A (p.Ser234Asn)
NM_001008212.2(OPTN):c.754G>C (p.Val252Leu) rs760339006
NM_001008212.2(OPTN):c.779+8A>G
NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys)
NM_001008212.2(OPTN):c.780-3C>T
NM_001008212.2(OPTN):c.847G>C (p.Glu283Gln) rs1833371043
NM_001008212.2(OPTN):c.882+5G>A
NM_001008212.2(OPTN):c.892G>A (p.Glu298Lys) rs1833407271
NM_001008212.2(OPTN):c.949C>G (p.His317Asp) rs1387105883
NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg)
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys) rs886046820
NM_001008212.2(OPTN):c.980A>G (p.Lys327Arg)
NM_001008212.2(OPTN):c.985A>G (p.Arg329Gly) rs1564364468

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