ClinVar Miner

List of variants reported as benign for behavioral variant of frontotemporal dementia by Invitae

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 231
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=) rs11540913 0.82371
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80823
NM_007126.5(VCP):c.811+3G>A rs514492 0.75591
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_007126.5(VCP):c.1695+8A>G rs684562 0.54947
NM_004960.4(FUS):c.291C>T (p.Tyr97=) rs1052352 0.45484
NM_004960.4(FUS):c.147C>A (p.Gly49=) rs741810 0.24179
NM_001008212.2(OPTN):c.369+39T>G rs79529484 0.22121
NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His) rs2258689 0.21570
NM_001008212.2(OPTN):c.166+66A>G rs10906303 0.20691
NM_001008212.2(OPTN):c.102G>A (p.Thr34=) rs2234968 0.19474
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=) rs1052553 0.14782
NM_001377265.1(MAPT):c.1941T>C (p.Asn647=) rs17652121 0.14693
NM_001377265.1(MAPT):c.1091T>C (p.Val364Ala) rs62063787 0.14671
NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu) rs63750417 0.14668
NM_001377265.1(MAPT):c.1078G>A (p.Asp360Asn) rs62063786 0.14666
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro) rs10445337 0.14666
NM_001377265.1(MAPT):c.1732+2342T>C rs62063845 0.14662
NM_001377265.1(MAPT):c.220+2535A>G rs1800547 0.14618
NM_001377265.1(MAPT):c.220+18C>T rs75242405 0.14617
NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp) rs17651549 0.14348
NM_007375.4(TARDBP):c.-13+95C>T rs11121681 0.13481
NM_007375.3(TARDBP):c.-122G>A rs11121679 0.13475
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=) rs1052551 0.12440
NM_001377265.1(MAPT):c.-18+124C>G rs3744456 0.12381
NM_001377265.1(MAPT):c.1080C>T (p.Asp360=) rs63750222 0.10563
NM_004082.5(DCTN1):c.3610-20C>G rs2268427 0.09345
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=) rs2279720 0.09131
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=) rs1044499 0.09006
NM_004960.4(FUS):c.190+9T>C rs73530283 0.06048
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_000021.3(PSEN1):c.-296C>T rs1800839 0.05747
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu) rs73314997 0.05622
NM_004082.5(DCTN1):c.1605A>G (p.Thr535=) rs13429423 0.04117
NM_000454.4(SOD1):c.-109A>G rs7277748 0.03982
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=) rs11568305 0.03866
NM_004082.5(DCTN1):c.859C>A (p.Leu287Met) rs13420401 0.03855
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
NM_000454.5(SOD1):c.73-108T>A rs16988404 0.03480
NM_004960.4(FUS):c.153C>T (p.Gly51=) rs61733962 0.03329
NM_001008212.2(OPTN):c.626+24G>A rs11258211 0.03152
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr) rs63750612 0.01528
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_004960.4(FUS):c.1156C>A (p.Arg386=) rs61733965 0.01496
NM_004960.4(FUS):c.524-5C>T rs73530287 0.01495
NM_018834.6(MATR3):c.1602+6A>G rs80036770 0.01434
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_004082.5(DCTN1):c.1288-3C>T rs72466490 0.01285
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
NM_001377265.1(MAPT):c.862G>A (p.Gly288Arg) rs76375268 0.01093
NM_001008212.2(OPTN):c.627-10T>C rs80327830 0.00853
NM_000454.5(SOD1):c.170-20T>C rs17885833 0.00737
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_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_007375.4(TARDBP):c.675A>G (p.Pro225=) rs61741294 0.00675
NM_007126.5(VCP):c.1082-9G>T rs12349922 0.00667
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_007126.5(VCP):c.1092C>T (p.Asp364=) rs61752947 0.00619
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_001008212.2(OPTN):c.553-10G>A rs11258210 0.00492
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_000021.3(PSEN1):c.-528C>G rs34086577 0.00339
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_007126.5(VCP):c.1360-14C>G rs144304208 0.00311
NM_014043.4(CHMP2B):c.34+8C>T rs35413339 0.00300
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_004960.4(FUS):c.636C>T (p.Asp212=) rs147528034 0.00282
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935 0.00270
NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=) rs115689748 0.00250
NM_001377265.1(MAPT):c.896T>G (p.Val299Gly) rs141120474 0.00235
NM_004082.5(DCTN1):c.1617A>G (p.Glu539=) rs139061654 0.00215
NM_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00213
NM_004082.5(DCTN1):c.2761-18C>T rs549475401 0.00209
NM_004960.4(FUS):c.273C>T (p.Tyr91=) rs73530286 0.00196
NM_001377265.1(MAPT):c.1732+2364C>T rs187760483 0.00195
NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met) rs143763184 0.00179
NM_004960.4(FUS):c.675C>T (p.Gly225=) rs140003720 0.00179
NM_001377265.1(MAPT):c.117G>A (p.Thr39=) rs63750529 0.00154
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250 0.00151
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) rs139863395 0.00150
NM_014043.4(CHMP2B):c.35-7C>T rs200912994 0.00133
NM_004082.5(DCTN1):c.2649C>T (p.Ser883=) rs140986485 0.00130
NM_018834.6(MATR3):c.1347C>T (p.Ala449=) rs141986556 0.00120
NM_001008212.2(OPTN):c.876G>A (p.Pro292=) rs151065414 0.00118
NM_004738.5(VAPB):c.316-17A>C rs201335617 0.00115
NM_007126.5(VCP):c.1081+17C>T rs200756991 0.00113
NM_001377265.1(MAPT):c.912C>G (p.Pro304=) rs142327009 0.00112
NM_007375.4(TARDBP):c.24C>T (p.Thr8=) rs72870030 0.00112
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_001008212.2(OPTN):c.779+20G>A rs79733653 0.00095
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00095
NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=) rs142030960 0.00086
NM_007375.4(TARDBP):c.544-17C>T rs117557248 0.00085
NM_004960.4(FUS):c.1464C>T (p.Gly488=) rs150529460 0.00075
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_001008212.2(OPTN):c.1148+13A>G rs368654623 0.00061
NM_004082.5(DCTN1):c.1998G>A (p.Thr666=) rs149900553 0.00061
NM_004960.4(FUS):c.198T>C (p.Tyr66=) rs144853447 0.00056
NM_001008212.2(OPTN):c.1612+10G>A rs191671333 0.00053
NM_000454.5(SOD1):c.72+19G>A rs201574089 0.00051
NM_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_001008212.2(OPTN):c.147C>T (p.Thr49=) rs187734249 0.00045
NM_004738.5(VAPB):c.59-4A>G rs193136039 0.00044
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669 0.00041
NM_007126.5(VCP):c.832T>C (p.Leu278=) rs200670526 0.00040
NM_004960.4(FUS):c.336-19_336-18insG rs146048051 0.00036
NM_001008212.2(OPTN):c.777A>T (p.Glu259Asp) rs532842754 0.00035
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_004960.4(FUS):c.684C>T (p.Gly228=) rs151073460 0.00034
NM_018834.6(MATR3):c.291A>G (p.Leu97=) rs147239107 0.00034
NM_018834.6(MATR3):c.1130-5T>A rs188905656 0.00033
NM_018834.6(MATR3):c.1893C>T (p.Ser631=) rs143527811 0.00033
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=) rs148750997 0.00029
NM_018834.6(MATR3):c.1183-5G>A rs369464069 0.00028
NM_018834.6(MATR3):c.1130-4A>G rs371701183 0.00027
NM_018834.6(MATR3):c.1435-20G>A rs75623350 0.00027
NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala) rs72466493 0.00024
NM_004960.4(FUS):c.764+12A>C rs143916861 0.00024
NM_007126.5(VCP):c.1482+18A>G rs370501665 0.00024
NM_004082.5(DCTN1):c.1095G>A (p.Glu365=) rs115088049 0.00023
NM_004738.5(VAPB):c.105G>A (p.Pro35=) rs141383583 0.00023
NM_004738.5(VAPB):c.528G>A (p.Leu176=) rs199921117 0.00022
NM_001377265.1(MAPT):c.643C>T (p.Pro215Ser) rs151115928 0.00019
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_018834.6(MATR3):c.2284G>A (p.Ala762Thr) rs148487997 0.00019
NM_007126.5(VCP):c.2193C>T (p.Ile731=) rs186657793 0.00017
NM_004082.5(DCTN1):c.2019C>T (p.Ala673=) rs372482596 0.00016
NM_004960.4(FUS):c.132C>T (p.Ser44=) rs72550883 0.00015
NM_018834.6(MATR3):c.2283C>T (p.Asn761=) rs189752689 0.00014
NM_001377265.1(MAPT):c.1732+2367C>G rs267604921 0.00013
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359 0.00011
NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg) rs143800457 0.00010
NM_004960.4(FUS):c.1169-11A>G rs181859716 0.00010
NM_013444.4(UBQLN2):c.51T>A (p.Pro17=) rs371163085 0.00010
NM_001377265.1(MAPT):c.2406T>C (p.Asn802=) rs115381139 0.00009
NM_004082.5(DCTN1):c.3573G>A (p.Gln1191=) rs137966704 0.00009
NM_007126.5(VCP):c.1875G>T (p.Arg625=) rs201410035 0.00009
NM_007126.5(VCP):c.2229G>A (p.Ala743=) rs200767982 0.00009
NM_004082.5(DCTN1):c.3546G>A (p.Ser1182=) rs149440626 0.00008
NM_013444.4(UBQLN2):c.1302G>T (p.Leu434=) rs759543866 0.00007
NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu) rs143138715 0.00006
NM_004738.5(VAPB):c.574-5C>T rs200211497 0.00006
NM_004960.4(FUS):c.66G>A (p.Gly22=) rs147877613 0.00006
NM_004960.4(FUS):c.833-17C>T rs376953672 0.00006
NM_004082.5(DCTN1):c.60G>A (p.Ala20=) rs150204862 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_013444.4(UBQLN2):c.1715C>T (p.Ala572Val) rs772368310 0.00005
NM_004082.5(DCTN1):c.2646C>T (p.Ser882=) rs191073199 0.00004
NM_018834.6(MATR3):c.2191T>C (p.Leu731=) rs149714542 0.00004
NM_000021.4(PSEN1):c.138C>T (p.His46=) rs116882898 0.00003
NM_004082.5(DCTN1):c.2136T>C (p.Asp712=) rs147297927 0.00003
NM_004082.5(DCTN1):c.72C>T (p.Ala24=) rs368633620 0.00003
NM_004960.4(FUS):c.237C>T (p.Gly79=) rs535930927 0.00003
NM_007126.5(VCP):c.54A>G (p.Lys18=) rs766042571 0.00003
NM_018834.6(MATR3):c.2494-14C>A rs779597861 0.00003
NM_004082.5(DCTN1):c.1702-7C>T rs554887316 0.00002
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=) rs146094433 0.00002
NM_007126.5(VCP):c.2214A>G (p.Glu738=) rs374391034 0.00002
NM_007126.5(VCP):c.812-7C>G rs764429197 0.00002
NM_007375.4(TARDBP):c.238+9C>T rs376560308 0.00002
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 0.00001
NM_004082.5(DCTN1):c.2629-4G>A rs201090138 0.00001
NM_004738.5(VAPB):c.681G>A (p.Leu227=) rs778389082 0.00001
NM_007126.5(VCP):c.1407A>G (p.Val469=) rs761430933 0.00001
NM_007126.5(VCP):c.2160+8T>G rs564249854 0.00001
NM_007126.5(VCP):c.465T>G (p.Arg155=) rs765140312 0.00001
NM_013444.4(UBQLN2):c.1734A>G (p.Pro578=) rs1271440811 0.00001
NM_013444.4(UBQLN2):c.717G>A (p.Arg239=) rs762742451 0.00001
NC_000014.9:g.73136378del rs148370307
NM_000021.4(PSEN1):c.1386C>T (p.Phe462=)
NM_000021.4(PSEN1):c.549-4dup rs763991845
NM_000021.4(PSEN1):c.843G>C (p.Thr281=) rs186495252
NM_000454.5(SOD1):c.169+52_169+58del rs541000032
NM_001008212.2(OPTN):c.1402-11del
NM_001008212.2(OPTN):c.1402-7C>T
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001008212.2(OPTN):c.964= (p.Glu322=)
NM_001377265.1(MAPT):c.1761C>T (p.Ser587=)
NM_001377265.1(MAPT):c.1974G>A (p.Leu658=) rs373081497
NM_004082.5(DCTN1):c.1585-16C>T
NM_004082.5(DCTN1):c.1854+20T>A rs369606521
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg) rs150928856
NM_004082.5(DCTN1):c.2623G>A (p.Glu875Lys)
NM_004082.5(DCTN1):c.2761-19C>G rs200545447
NM_004082.5(DCTN1):c.280-34_280-12dup rs762313810
NM_004082.5(DCTN1):c.3212-14dup
NM_004082.5(DCTN1):c.3408T>C (p.His1136=)
NM_004082.5(DCTN1):c.3529+8C>T rs547520298
NM_004082.5(DCTN1):c.3699+12_3699+23del rs769645845
NM_004082.5(DCTN1):c.3699+18del
NM_004082.5(DCTN1):c.3711G>A (p.Glu1237=)
NM_004082.5(DCTN1):c.393+16del rs529200706
NM_004082.5(DCTN1):c.627G>T (p.Pro209=) rs147673066
NM_004082.5(DCTN1):c.810C>G (p.Ala270=) rs569011011
NM_004082.5(DCTN1):c.858G>T (p.Ala286=) rs151107870
NM_004082.5(DCTN1):c.999C>T (p.Asp333=) rs200952455
NM_004738.5(VAPB):c.-33C>G rs201547974
NM_004738.5(VAPB):c.156C>T (p.Tyr52=) rs749580878
NM_004738.5(VAPB):c.316-3del
NM_004738.5(VAPB):c.59-20G>A
NM_004960.4(FUS):c.1292+22dup rs572228309
NM_004960.4(FUS):c.144A>G (p.Ser48=)
NM_004960.4(FUS):c.1453C>T (p.Arg485Trp)
NM_004960.4(FUS):c.336-19_336-16del rs755482297
NM_004960.4(FUS):c.518_523del
NM_004960.4(FUS):c.524-13dup rs755045476
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup) rs72550890
NM_004960.4(FUS):c.702C>T (p.Arg234=) rs149785330
NM_007126.5(VCP):c.1082-18_1082-8dup rs11272867
NM_007375.4(TARDBP):c.238+21dup
NM_007375.4(TARDBP):c.239-18T>C
NM_007375.4(TARDBP):c.792C>T (p.His264=)
NM_013444.4(UBQLN2):c.1173C>T (p.Tyr391=)
NM_013444.4(UBQLN2):c.1464T>C (p.Ala488=)
NM_013444.4(UBQLN2):c.1491CATAGGCCC[1] (p.499GPI[1])
NM_013444.4(UBQLN2):c.1752A>C (p.Gln584His)
NM_013444.4(UBQLN2):c.327G>C (p.Gln109His)
NM_013444.4(UBQLN2):c.359G>C (p.Gly120Ala)
NM_013444.4(UBQLN2):c.405T>C (p.Pro135=)
NM_018834.6(MATR3):c.1603-17T>C rs199789148
NM_018834.6(MATR3):c.1778+19del rs753454728
NM_018834.6(MATR3):c.1779-20GT[2] rs779005896
NM_018834.6(MATR3):c.2494-12_2494-11del rs756391139

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