ClinVar Miner

List of variants reported as uncertain significance for behavioral variant of frontotemporal dementia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 440
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HGVS dbSNP gnomAD frequency
NM_004738.5(VAPB):c.*5095T>G rs143424619 0.00210
NM_004738.5(VAPB):c.*4327A>G rs183197400 0.00208
NM_000454.5(SOD1):c.*153T>G rs188029963 0.00203
NM_007126.5(VCP):c.*1040T>C rs188935092 0.00171
NM_007375.4(TARDBP):c.*1622A>T rs551513393 0.00167
NM_014845.6(FIG4):c.-132A>G rs548471516 0.00150
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.-250C>A rs886046818 0.00088
NM_001008212.2(OPTN):c.*461G>A rs541250740 0.00081
NM_004960.3(FUS):c.*721A>G rs558776704 0.00071
NM_004738.5(VAPB):c.*2850T>C rs777977641 0.00064
NM_001008212.2(OPTN):c.*1285T>C rs560947786 0.00057
NM_018834.6(MATR3):c.*1757T>C rs191196444 0.00057
NM_199189.2(MATR3):c.-649C>T rs779721416 0.00053
NM_007375.4(TARDBP):c.*2154G>T rs886045048 0.00046
NM_007126.5(VCP):c.*367G>A rs768675930 0.00043
NM_004738.5(VAPB):c.*1050G>A rs551974797 0.00041
NM_004738.5(VAPB):c.*4862A>G rs143395644 0.00040
NM_004738.5(VAPB):c.*3001T>G rs551260354 0.00036
NM_007126.5(VCP):c.*700C>A rs537730311 0.00035
NM_007375.4(TARDBP):c.*666G>A rs778834503 0.00032
NM_007375.4(TARDBP):c.*2773A>G rs187380325 0.00031
NM_004738.5(VAPB):c.*3315A>G rs772298515 0.00027
NM_004738.5(VAPB):c.*5769G>A rs150490845 0.00026
NM_004738.5(VAPB):c.-166G>A rs553588236 0.00026
NM_004960.3(FUS):c.*1034C>T rs181164144 0.00026
NM_004738.5(VAPB):c.*5283C>T rs747799775 0.00024
NM_004960.3(FUS):c.*1451A>G rs960906406 0.00024
NM_014043.4(CHMP2B):c.*1647A>G rs534772903 0.00024
NM_007126.5(VCP):c.-250C>T rs886063894 0.00023
NM_004738.5(VAPB):c.*1800A>G rs564187580 0.00022
NM_004738.5(VAPB):c.*6404C>T rs774485714 0.00022
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val) rs80356715 0.00022
NM_004738.5(VAPB):c.*3643G>C rs554314719 0.00021
NM_007375.4(TARDBP):c.*670T>C rs745611651 0.00021
NM_001097577.3(ANG):c.3G>A (p.Met1Ile) rs201068740 0.00020
NM_001145.4(ANG):c.-524G>A rs886050395 0.00020
NM_004738.5(VAPB):c.*2012G>A rs1000867664 0.00020
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_007375.4(TARDBP):c.*214T>C rs557787340 0.00019
NM_001008212.2(OPTN):c.*1385T>C rs546352206 0.00017
NM_004738.5(VAPB):c.574-4G>A rs201798741 0.00016
NM_004960.3(FUS):c.*2299A>C rs774311328 0.00016
NM_007375.4(TARDBP):c.*2823T>C rs961126665 0.00016
NM_014845.6(FIG4):c.-138T>C rs550585093 0.00016
NM_004738.5(VAPB):c.*3738A>C rs766693591 0.00015
NM_004960.3(FUS):c.*1834A>G rs758999415 0.00015
NM_004738.5(VAPB):c.*3192T>C rs545089397 0.00014
NM_004960.3(FUS):c.*1750C>T rs191806441 0.00014
NM_004738.4(VAPB):c.-283A>C rs886056804 0.00013
NM_007126.5(VCP):c.*347C>T rs886063888 0.00013
NM_014845.6(FIG4):c.-84A>G rs764845399 0.00013
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) rs540674198 0.00013
NM_004960.3(FUS):c.*1581T>C rs751331525 0.00012
NM_014845.6(FIG4):c.1271+5A>G rs374583399 0.00012
NM_004738.5(VAPB):c.*2748A>C rs368079533 0.00011
NM_004960.3(FUS):c.*2851T>C rs745882198 0.00011
NM_007126.5(VCP):c.*382C>T rs749381324 0.00011
NM_007126.5(VCP):c.-215A>G rs886063893 0.00011
NM_004960.3(FUS):c.*1843G>A rs886051951 0.00010
NM_014043.4(CHMP2B):c.*718C>T rs918982067 0.00010
NM_004738.5(VAPB):c.*4394C>T rs1042545830 0.00009
NM_004738.5(VAPB):c.*5771T>G rs746524529 0.00009
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp) rs144718603 0.00009
NM_004960.4(FUS):c.222A>G (p.Gly74=) rs757454595 0.00009
NM_014043.4(CHMP2B):c.*1421C>T rs1016915311 0.00009
NM_018834.6(MATR3):c.*857C>T rs745417770 0.00009
NM_199189.3(MATR3):c.-422C>T rs751398373 0.00009
NM_007375.4(TARDBP):c.36C>T (p.Asn12=) rs565091566 0.00008
NM_014845.6(FIG4):c.-112G>A rs757848529 0.00008
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_004960.3(FUS):c.*1610C>T rs538629605 0.00007
NM_004960.3(FUS):c.*2314C>G rs768611402 0.00007
NM_007375.4(TARDBP):c.*663C>T rs1401373740 0.00007
NM_014845.6(FIG4):c.2096G>A (p.Arg699His) rs750091928 0.00007
NM_001008212.2(OPTN):c.*218G>C rs886046824 0.00006
NM_001008212.2(OPTN):c.*413G>A rs886046825 0.00006
NM_001008212.2(OPTN):c.573A>G (p.Ser191=) rs773095721 0.00006
NM_004738.5(VAPB):c.*348C>T rs182950622 0.00006
NM_004738.5(VAPB):c.*480T>C rs1037475892 0.00006
NM_004738.5(VAPB):c.*774G>A rs138920779 0.00006
NM_004960.3(FUS):c.*1014G>A rs933525513 0.00006
NM_004960.3(FUS):c.*2259G>C rs886051954 0.00006
NM_007126.5(VCP):c.*172C>G rs886063890 0.00006
NM_007126.5(VCP):c.*217G>T rs981870646 0.00006
NM_007126.5(VCP):c.*64C>T rs553370942 0.00006
NM_007375.4(TARDBP):c.669C>G (p.Pro223=) rs149517613 0.00006
NM_014043.4(CHMP2B):c.*1516C>T rs1024508536 0.00006
NM_018834.6(MATR3):c.*2241A>G rs886060006 0.00006
NM_000454.5(SOD1):c.420C>T (p.Asn140=) rs1804449 0.00005
NM_001008212.2(OPTN):c.*1089G>A rs758812707 0.00005
NM_001008212.2(OPTN):c.-172G>A rs1453573477 0.00005
NM_004738.5(VAPB):c.*382G>A rs968333452 0.00005
NM_004738.5(VAPB):c.-189C>T rs886056807 0.00005
NM_004738.5(VAPB):c.289A>G (p.Thr97Ala) rs752091117 0.00005
NM_004960.3(FUS):c.-118G>A rs763010069 0.00005
NM_007126.4(VCP):c.-370G>A rs886063895 0.00005
NM_007126.5(VCP):c.*63G>A rs969638105 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys) rs368625871 0.00005
NM_014845.6(FIG4):c.2096+3A>G rs374223402 0.00005
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) rs372846619 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.425A>C (p.Gln142Pro) rs757411888 0.00004
NM_004738.5(VAPB):c.*2733G>A rs533186435 0.00004
NM_004738.5(VAPB):c.*3305C>G rs747662615 0.00004
NM_004738.5(VAPB):c.*5145T>C rs79674150 0.00004
NM_004738.5(VAPB):c.*5453C>T rs1268822756 0.00004
NM_004738.5(VAPB):c.*6087A>G rs1429161682 0.00004
NM_004960.3(FUS):c.*1081T>G rs769920119 0.00004
NM_007126.5(VCP):c.1360-6T>C rs370296303 0.00004
NM_007375.4(TARDBP):c.57A>G (p.Pro19=) rs532319219 0.00004
NM_018834.6(MATR3):c.*2098A>G rs774066454 0.00004
NM_000454.4(SOD1):c.-84C>G rs573544165 0.00003
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696 0.00003
NM_001008212.2(OPTN):c.812G>A (p.Arg271His) rs201896586 0.00003
NM_004738.5(VAPB):c.*1295T>C rs754082863 0.00003
NM_004738.5(VAPB):c.*3701C>T rs372302350 0.00003
NM_004738.5(VAPB):c.*5352C>T rs886056828 0.00003
NM_004738.5(VAPB):c.*624C>T rs551924874 0.00003
NM_004738.5(VAPB):c.618C>T (p.Ser206=) rs747208140 0.00003
NM_004960.3(FUS):c.*1580A>G rs886051946 0.00003
NM_004960.3(FUS):c.*1601C>T rs886051947 0.00003
NM_004960.3(FUS):c.*1614T>G rs750030096 0.00003
NM_004960.3(FUS):c.*1650C>T rs886051948 0.00003
NM_004960.3(FUS):c.*1942G>A rs886051953 0.00003
NM_004960.3(FUS):c.*196C>T rs886051938 0.00003
NM_004960.3(FUS):c.*852A>G rs766638312 0.00003
NM_004960.4(FUS):c.452C>T (p.Pro151Leu) rs144342946 0.00003
NM_007126.5(VCP):c.384T>C (p.Gly128=) rs367703031 0.00003
NM_007375.3(TARDBP):c.-117G>A rs886045031 0.00003
NM_007375.3(TARDBP):c.-126G>T rs886045030 0.00003
NM_007375.4(TARDBP):c.*129T>C rs886045036 0.00003
NM_007375.4(TARDBP):c.*2123T>C rs1464055996 0.00003
NM_007375.4(TARDBP):c.*2749T>C rs1028236461 0.00003
NM_007375.4(TARDBP):c.*306C>T rs1034083151 0.00003
NM_007375.4(TARDBP):c.*963C>T rs751628760 0.00003
NM_014845.5(FIG4):c.-152C>A rs1408966015 0.00003
NM_014845.6(FIG4):c.243A>G (p.Lys81=) rs200257799 0.00003
NM_014845.6(FIG4):c.2547-11A>G rs745613994 0.00003
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu) rs200970494 0.00003
NM_018834.6(MATR3):c.*1239A>G rs746298588 0.00003
NM_018834.6(MATR3):c.*2171C>T rs886060004 0.00003
NM_018834.6(MATR3):c.*2222G>T rs886060005 0.00003
NM_018834.6(MATR3):c.*587A>G rs535027907 0.00003
NM_018834.6(MATR3):c.*770A>G rs886059996 0.00003
NM_000454.5(SOD1):c.457G>A (p.Ala153Thr) rs747094021 0.00002
NM_000454.5(SOD1):c.66G>A (p.Glu22=) rs756458346 0.00002
NM_001097577.3(ANG):c.62C>T (p.Pro21Leu) rs773237991 0.00002
NM_002937.5(RNASE4):c.-167A>G rs374332721 0.00002
NM_004738.5(VAPB):c.*1563G>C rs1049373137 0.00002
NM_004738.5(VAPB):c.*172A>C rs757709521 0.00002
NM_004738.5(VAPB):c.*3134G>T rs886056818 0.00002
NM_004738.5(VAPB):c.*3493G>A rs764048379 0.00002
NM_004738.5(VAPB):c.*436C>T rs966052820 0.00002
NM_004738.5(VAPB):c.*5832G>A rs886056833 0.00002
NM_004960.3(FUS):c.*1067G>C rs1170967009 0.00002
NM_004960.3(FUS):c.*1225C>T rs1183381896 0.00002
NM_004960.3(FUS):c.*1587G>A rs1446005747 0.00002
NM_004960.3(FUS):c.*1593C>T rs577955571 0.00002
NM_004960.3(FUS):c.*2288C>T rs1418881668 0.00002
NM_004960.3(FUS):c.*3174T>G rs3764324 0.00002
NM_004960.3(FUS):c.*3226G>A rs1004430396 0.00002
NM_004960.3(FUS):c.*356G>A rs886051940 0.00002
NM_004960.4(FUS):c.443G>C (p.Ser148Thr) rs773655049 0.00002
NM_007375.4(TARDBP):c.*1795A>G rs886045044 0.00002
NM_007375.4(TARDBP):c.*2334G>A rs182302907 0.00002
NM_007375.4(TARDBP):c.*954A>G rs1295153637 0.00002
NM_007375.4(TARDBP):c.963C>T (p.Ala321=) rs547979470 0.00002
NM_013444.3(UBQLN2):c.-271G>C rs1057515974 0.00002
NM_013444.3(UBQLN2):c.-272T>C rs944115587 0.00002
NM_014043.4(CHMP2B):c.*1422G>A rs572323799 0.00002
NM_014845.6(FIG4):c.1482C>T (p.Asn494=) rs776928002 0.00002
NM_014845.6(FIG4):c.2547-4A>G rs886060985 0.00002
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) rs764958115 0.00002
NM_018834.6(MATR3):c.*1143G>A rs1357784533 0.00002
NM_018834.6(MATR3):c.*2170T>G rs1403800962 0.00002
NM_018834.6(MATR3):c.*262A>G rs1378690022 0.00002
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile) rs201970174 0.00002
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro) rs772562504 0.00002
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr) rs567432143 0.00001
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.-272G>T rs886046817 0.00001
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp) rs774245711 0.00001
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) rs756622651 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.867G>C (p.Glu289Asp) rs143727251 0.00001
NM_001097577.3(ANG):c.38T>C (p.Val13Ala) rs200240901 0.00001
NM_002087.3(GRN):c.-173C>T rs886053004 0.00001
NM_004738.4(VAPB):c.-349G>T rs1198298691 0.00001
NM_004738.5(VAPB):c.*1022C>A rs1403046933 0.00001
NM_004738.5(VAPB):c.*1168G>A rs570596321 0.00001
NM_004738.5(VAPB):c.*1951A>G rs1233509892 0.00001
NM_004738.5(VAPB):c.*3027A>G rs140832542 0.00001
NM_004738.5(VAPB):c.*3628A>G rs886056821 0.00001
NM_004738.5(VAPB):c.*3942C>T rs886056823 0.00001
NM_004738.5(VAPB):c.*4023A>G rs1345404183 0.00001
NM_004738.5(VAPB):c.*4929C>T rs761438209 0.00001
NM_004738.5(VAPB):c.*574G>A rs1203824252 0.00001
NM_004738.5(VAPB):c.*602G>A rs536862661 0.00001
NM_004738.5(VAPB):c.*6238T>C rs886056835 0.00001
NM_004738.5(VAPB):c.*6354G>A rs886056836 0.00001
NM_004738.5(VAPB):c.*6462G>T rs761969079 0.00001
NM_004738.5(VAPB):c.*6746C>T rs886056839 0.00001
NM_004738.5(VAPB):c.*6842A>G rs886056840 0.00001
NM_004738.5(VAPB):c.*861T>C rs779052440 0.00001
NM_004738.5(VAPB):c.-12C>T rs886056810 0.00001
NM_004738.5(VAPB):c.332C>T (p.Pro111Leu) rs777316448 0.00001
NM_004960.3(FUS):c.*1183C>T rs1287894101 0.00001
NM_004960.3(FUS):c.*1273C>T rs371771617 0.00001
NM_004960.3(FUS):c.*1409C>T rs537114134 0.00001
NM_004960.3(FUS):c.*1810C>A rs886051950 0.00001
NM_004960.3(FUS):c.*1851G>A rs1262725950 0.00001
NM_004960.3(FUS):c.*1908C>T rs886051952 0.00001
NM_004960.3(FUS):c.*1916A>G rs759332004 0.00001
NM_004960.3(FUS):c.*2114T>C rs968946643 0.00001
NM_004960.3(FUS):c.*2145G>T rs889675456 0.00001
NM_004960.3(FUS):c.*270A>G rs886051939 0.00001
NM_004960.3(FUS):c.*282G>A rs928323867 0.00001
NM_004960.3(FUS):c.*2967C>G rs1295852228 0.00001
NM_004960.3(FUS):c.*3185A>G rs1406314738 0.00001
NM_004960.3(FUS):c.*457A>G rs184638686 0.00001
NM_004960.3(FUS):c.*926T>G rs886051943 0.00001
NM_004960.4(FUS):c.-51C>T rs571696003 0.00001
NM_004960.4(FUS):c.1168+6G>C rs750980752 0.00001
NM_004960.4(FUS):c.192A>G (p.Thr64=) rs776333956 0.00001
NM_004960.4(FUS):c.39-12C>T rs1162920137 0.00001
NM_004960.4(FUS):c.403A>G (p.Ser135Gly) rs886051934 0.00001
NM_004960.4(FUS):c.802C>G (p.Pro268Ala) rs1159514550 0.00001
NM_004960.4(FUS):c.951G>A (p.Thr317=) rs771216742 0.00001
NM_007126.5(VCP):c.*184G>A rs886063889 0.00001
NM_007126.5(VCP):c.*885G>A rs925146670 0.00001
NM_007126.5(VCP):c.335A>G (p.Lys112Arg) rs766787045 0.00001
NM_007126.5(VCP):c.446-4G>A rs370700002 0.00001
NM_007126.5(VCP):c.697A>G (p.Ile233Val) rs750335399 0.00001
NM_007375.4(TARDBP):c.*2046T>G rs886045047 0.00001
NM_007375.4(TARDBP):c.*2252A>G rs552057039 0.00001
NM_007375.4(TARDBP):c.*2750G>A rs779882516 0.00001
NM_007375.4(TARDBP):c.*551C>G rs750948407 0.00001
NM_007375.4(TARDBP):c.*556G>A rs776417983 0.00001
NM_007375.4(TARDBP):c.*591G>A rs759396520 0.00001
NM_007375.4(TARDBP):c.499A>G (p.Met167Val) rs886045035 0.00001
NM_013444.4(UBQLN2):c.*1171T>A rs937418356 0.00001
NM_013444.4(UBQLN2):c.*16T>C rs1057515977 0.00001
NM_013444.4(UBQLN2):c.*661A>T rs1001391381 0.00001
NM_013444.4(UBQLN2):c.1031A>G (p.Asn344Ser) rs779133675 0.00001
NM_013444.4(UBQLN2):c.1170C>T (p.Pro390=) rs1057515976 0.00001
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=) rs778382794 0.00001
NM_013444.4(UBQLN2):c.808C>T (p.Arg270Cys) rs1330837640 0.00001
NM_014043.4(CHMP2B):c.*1482T>A rs910263560 0.00001
NM_014043.4(CHMP2B):c.*1641A>C rs886058912 0.00001
NM_014043.4(CHMP2B):c.*901T>C rs1014335812 0.00001
NM_014043.4(CHMP2B):c.-144C>T rs1441064038 0.00001
NM_014043.4(CHMP2B):c.-205C>T rs556556377 0.00001
NM_014043.4(CHMP2B):c.-34G>A rs199854996 0.00001
NM_014845.6(FIG4):c.-124A>G rs544958043 0.00001
NM_014845.6(FIG4):c.-134C>G rs560811735 0.00001
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr) rs751399063 0.00001
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met) rs1274229885 0.00001
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273 0.00001
NM_018834.6(MATR3):c.*1111T>C rs772678059 0.00001
NM_018834.6(MATR3):c.*1891T>G rs886060001 0.00001
NM_018834.6(MATR3):c.*2142G>A rs1561950387 0.00001
NM_018834.6(MATR3):c.*493T>C rs972728364 0.00001
NM_018834.6(MATR3):c.*60A>G rs886059993 0.00001
NM_018834.6(MATR3):c.-5C>G rs375381025 0.00001
NM_018834.6(MATR3):c.1179A>G (p.Arg393=) rs747566193 0.00001
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys) rs1291862870 0.00001
NM_018834.6(MATR3):c.305G>A (p.Arg102His) rs886059988 0.00001
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu) rs761842979 0.00001
NM_000454.4(SOD1):c.-87G>A rs139202139
NM_000454.4(SOD1):c.-87G>C rs139202139
NM_000454.4(SOD1):c.-91C>G rs568985632
NM_000454.5(SOD1):c.*198G>A rs2049623017
NM_000454.5(SOD1):c.-55C>G rs16988395
NM_000454.5(SOD1):c.-55C>T rs16988395
NM_000454.5(SOD1):c.-56T>A rs535066119
NM_000454.5(SOD1):c.331C>T (p.His111Tyr) rs2049603707
NM_000454.5(SOD1):c.75A>G (p.Glu25=) rs2049569274
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.-184C>G rs955585590
NM_001008212.2(OPTN):c.-9A>G rs779282676
NM_001008212.2(OPTN):c.1243-9C>A rs1833497674
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) rs886046821
NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg) rs1832936570
NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys) rs1832971194
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.441G>A (p.Val147=) rs886046819
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys) rs886046820
NM_001097577.3(ANG):c.*81A>C rs550007170
NM_001097577.3(ANG):c.-18-4G>A rs373669465
NM_001097577.3(ANG):c.224G>A (p.Arg75His) rs146485834
NM_001097577.3(ANG):c.368G>A (p.Gly123Glu) rs535311762
NM_001145.4(ANG):c.-381C>T rs886050396
NM_001145.4(ANG):c.-542G>A rs1886313088
NM_001145.4(ANG):c.-594C>A rs886050394
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del) rs754862784
NM_002087.4(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002937.5(RNASE4):c.-114G>C rs886050397
NM_004738.5(VAPB):c.*1431G>T rs886056813
NM_004738.5(VAPB):c.*1905C>T rs1989287889
NM_004738.5(VAPB):c.*1919A>G rs886056816
NM_004738.5(VAPB):c.*2350A>G rs1989298509
NM_004738.5(VAPB):c.*2571G>A rs1989303521
NM_004738.5(VAPB):c.*2676A>G rs886056817
NM_004738.5(VAPB):c.*2876A>G rs1989311671
NM_004738.5(VAPB):c.*3014C>T rs1269284815
NM_004738.5(VAPB):c.*3118C>A rs56310716
NM_004738.5(VAPB):c.*3260C>T rs886056819
NM_004738.5(VAPB):c.*3516C>G rs886056820
NM_004738.5(VAPB):c.*3870G>C rs886056822
NM_004738.5(VAPB):c.*4206G>A rs886056824
NM_004738.5(VAPB):c.*4374A>C rs1989355496
NM_004738.5(VAPB):c.*4418C>T rs774417253
NM_004738.5(VAPB):c.*4637G>T rs1313089832
NM_004738.5(VAPB):c.*5114G>A rs886056826
NM_004738.5(VAPB):c.*5500A>G rs1989390124
NM_004738.5(VAPB):c.*5616T>C rs1989394911
NM_004738.5(VAPB):c.*5789C>T rs867023811
NM_004738.5(VAPB):c.*5795T>G rs886056831
NM_004738.5(VAPB):c.*5815G>A rs886056832
NM_004738.5(VAPB):c.*6068T>C rs897600456
NM_004738.5(VAPB):c.*6631G>T rs1442004772
NM_004738.5(VAPB):c.-152C>A rs753958893
NM_004738.5(VAPB):c.212-12T>C rs1988997194
NM_004738.5(VAPB):c.30C>T (p.Leu10=) rs886056811
NM_004738.5(VAPB):c.310G>A (p.Ala104Thr) rs1295445556
NM_004960.3(FUS):c.*1230C>G rs886051945
NM_004960.3(FUS):c.*1302T>G rs1323278196
NM_004960.3(FUS):c.*1734C>T rs886051949
NM_004960.3(FUS):c.*175C>T rs375615976
NM_004960.3(FUS):c.*2063C>G rs954792797
NM_004960.3(FUS):c.*2329G>C rs2079389885
NM_004960.3(FUS):c.*272T>C rs1175838580
NM_004960.3(FUS):c.*2815T>C rs2079395649
NM_004960.3(FUS):c.*3092C>T rs886051958
NM_004960.3(FUS):c.*3263T>G rs886051959
NM_004960.3(FUS):c.*408A>C rs553760130
NM_004960.3(FUS):c.*415A>T rs771689682
NM_004960.3(FUS):c.*805C>G rs886051942
NM_004960.3(FUS):c.*953G>T rs2079374011
NM_004960.4(FUS):c.-15C>G rs768477428
NM_004960.4(FUS):c.-48C>G rs199671743
NM_004960.4(FUS):c.-49G>A rs200997075
NM_004960.4(FUS):c.-49G>T rs200997075
NM_004960.4(FUS):c.-53C>T rs759668256
NM_004960.4(FUS):c.1181G>T (p.Arg394Leu) rs886051936
NM_004960.4(FUS):c.1376C>T (p.Pro459Leu) rs1131691846
NM_004960.4(FUS):c.1414C>T (p.Arg472Cys) rs914056789
NM_004960.4(FUS):c.40T>A (p.Tyr14Asn) rs2079194587
NM_004960.4(FUS):c.524-7C>T rs747200795
NM_004960.4(FUS):c.52C>T (p.Pro18Ser) rs144888138
NM_004960.4(FUS):c.824A>G (p.His275Arg) rs1405011209
NM_004960.4(FUS):c.833-9A>T rs1055720509
NM_004960.4(FUS):c.937-10C>T rs199705472
NM_007126.5(VCP):c.*216G>A rs567542622
NM_007126.5(VCP):c.*788G>A rs886063887
NM_007126.5(VCP):c.-53C>T rs369830702
NM_007126.5(VCP):c.1293C>T (p.Asp431=) rs1828712869
NM_007126.5(VCP):c.130-9T>C rs1828868223
NM_007126.5(VCP):c.185A>G (p.Lys62Arg) rs886063892
NM_007126.5(VCP):c.591C>G (p.Ser197=) rs866003333
NM_007126.5(VCP):c.794T>C (p.Phe265Ser) rs1828756507
NM_007375.4(TARDBP):c.*1084A>T rs886045041
NM_007375.4(TARDBP):c.*142T>C rs1643667051
NM_007375.4(TARDBP):c.*1597_*1600del rs748047297
NM_007375.4(TARDBP):c.*159A>C rs886045037
NM_007375.4(TARDBP):c.*1633del rs886045043
NM_007375.4(TARDBP):c.*2005T>C rs886045045
NM_007375.4(TARDBP):c.*2029C>T rs886045046
NM_007375.4(TARDBP):c.*2260T>G rs1241104365
NM_007375.4(TARDBP):c.*2360C>T rs886045049
NM_007375.4(TARDBP):c.*2538del rs886045050
NM_007375.4(TARDBP):c.*2829dup rs886045051
NM_007375.4(TARDBP):c.*505del rs886045038
NM_007375.4(TARDBP):c.*560A>T rs1218479013
NM_007375.4(TARDBP):c.*56C>T rs1440666601
NM_007375.4(TARDBP):c.*616G>C rs1401947753
NM_007375.4(TARDBP):c.*697G>A rs387906334
NM_007375.4(TARDBP):c.*763G>A rs1643678827
NM_007375.4(TARDBP):c.*842G>A rs886045039
NM_007375.4(TARDBP):c.*862G>T rs886045040
NM_007375.4(TARDBP):c.-42C>T rs886045033
NM_007375.4(TARDBP):c.-77G>A rs886045032
NM_007375.4(TARDBP):c.717T>C (p.Ile239=) rs1643650855
NM_013444.3(UBQLN2):c.-277A>C rs1057515973
NM_013444.4(UBQLN2):c.*41G>T rs990201540
NM_013444.4(UBQLN2):c.*655A>C rs2068642753
NM_013444.4(UBQLN2):c.*881A>G rs1057515979
NM_013444.4(UBQLN2):c.*905G>A rs2068644137
NM_013444.4(UBQLN2):c.-159A>G rs2068626818
NM_013444.4(UBQLN2):c.-54T>G rs2068627546
NM_013444.4(UBQLN2):c.1858G>C (p.Gly620Arg) rs2068639281
NM_014043.3(CHMP2B):c.-259C>A rs538600777
NM_014043.4(CHMP2B):c.*1008_*1011del rs886058911
NM_014043.4(CHMP2B):c.*106dup rs368297778
NM_014043.4(CHMP2B):c.*1080C>T rs963258376
NM_014043.4(CHMP2B):c.*121G>A rs1706359144
NM_014043.4(CHMP2B):c.*1414T>C rs1575973316
NM_014043.4(CHMP2B):c.*602T>G rs886058908
NM_014043.4(CHMP2B):c.*626A>G rs971797498
NM_014043.4(CHMP2B):c.*92dup rs886058906
NM_014043.4(CHMP2B):c.*955_*960del rs886058909
NM_014043.4(CHMP2B):c.*968G>A rs886058910
NM_014043.4(CHMP2B):c.-38C>T rs886058905
NM_014043.4(CHMP2B):c.202C>T (p.Leu68=) rs1706200423
NM_014043.4(CHMP2B):c.531+8C>T rs374796686
NM_014845.6(FIG4):c.1272-10C>G rs201293291
NM_014845.6(FIG4):c.1889+9C>T rs1777643262
NM_014845.6(FIG4):c.235G>A (p.Gly79Arg) rs886060982
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.6(FIG4):c.2546+5G>C rs1060501401
NM_018834.6(MATR3):c.*138T>C rs1756028343
NM_018834.6(MATR3):c.*1633T>C rs886059998
NM_018834.6(MATR3):c.*1821T>G rs886060000
NM_018834.6(MATR3):c.*1999G>T rs886060002
NM_018834.6(MATR3):c.*2077A>C rs886060003
NM_018834.6(MATR3):c.*413A>T rs886059995
NM_018834.6(MATR3):c.*441C>G rs572126808
NM_018834.6(MATR3):c.*487C>T rs1756049111
NM_018834.6(MATR3):c.*929G>A rs886059997
NM_018834.6(MATR3):c.-124T>C rs886059987
NM_018834.6(MATR3):c.-139G>A rs886059986
NM_018834.6(MATR3):c.1734+11T>G rs886059990
NM_018834.6(MATR3):c.1954C>T (p.Leu652Phe) rs886059991
NM_018834.6(MATR3):c.2031C>T (p.Asp677=) rs557085910
NM_018834.6(MATR3):c.2233G>C (p.Ala745Pro) rs772433814
NM_018834.6(MATR3):c.675A>G (p.Arg225=) rs199711502
NM_021980.4(OPTN):c.-187G>T rs553169923
NM_021980.4(OPTN):c.-232G>T rs886046816
NM_199189.2(MATR3):c.-563T>C rs1753162477

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