ClinVar Miner

List of variants reported as likely benign 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: 98
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HGVS dbSNP gnomAD frequency
NM_014043.4(CHMP2B):c.*1503G>C rs1060238 0.03503
NM_014043.4(CHMP2B):c.*1190G>T rs115892684 0.02804
NM_007375.4(TARDBP):c.*208G>A rs148414479 0.02507
NM_007375.4(TARDBP):c.*2331A>G rs114897688 0.02160
NM_013444.4(UBQLN2):c.*1258C>T rs41306757 0.01401
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845 0.01301
NM_018834.6(MATR3):c.-56G>A rs59033177 0.01187
NM_001008212.2(OPTN):c.*562T>G rs148646641 0.00706
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_007126.5(VCP):c.*1001C>T rs192556285 0.00482
NM_006610.4(MASP2):c.*184C>T rs115750484 0.00452
NM_004960.3(FUS):c.*1992A>C rs146490489 0.00325
NM_004738.5(VAPB):c.*3118C>T rs56310716 0.00306
NM_004738.5(VAPB):c.*467G>A rs141496875 0.00301
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_004960.3(FUS):c.*1998T>C rs182437252 0.00272
NM_004738.5(VAPB):c.*375C>G rs540854828 0.00247
NM_007375.4(TARDBP):c.*1008T>G rs141412238 0.00145
NM_004738.5(VAPB):c.*3566A>T rs114038495 0.00142
NM_014043.4(CHMP2B):c.*899T>A rs186472338 0.00142
NM_004738.5(VAPB):c.*5790G>A rs192046748 0.00126
NM_004960.3(FUS):c.*2005G>T rs140979886 0.00123
NM_004738.5(VAPB):c.*3274C>T rs553170533 0.00122
NM_004738.5(VAPB):c.*6578T>G rs115932469 0.00121
NM_001097577.3(ANG):c.*139A>G rs542458460 0.00108
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_007126.5(VCP):c.*12C>T rs62544156 0.00088
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_004738.5(VAPB):c.*3725T>C rs574293455 0.00083
NM_004738.5(VAPB):c.*726A>G rs560832981 0.00083
NM_004960.3(FUS):c.*335G>T rs192206514 0.00076
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_004738.5(VAPB):c.-137C>T rs542349554 0.00062
NM_004738.5(VAPB):c.*1347A>G rs192710529 0.00059
NM_004960.3(FUS):c.*561C>T rs192705444 0.00058
NM_004960.4(FUS):c.404G>A (p.Ser135Asn) rs61732970 0.00056
NM_007375.3(TARDBP):c.-110C>T rs577981181 0.00053
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_007375.4(TARDBP):c.*1623T>A rs566657331 0.00051
NM_001008212.2(OPTN):c.147C>T (p.Thr49=) rs187734249 0.00045
NM_004738.5(VAPB):c.59-4A>G rs193136039 0.00044
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_007375.4(TARDBP):c.239-15G>A rs200066188 0.00034
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_002937.5(RNASE4):c.-18+11A>C rs184963428 0.00033
NM_007126.5(VCP):c.2406T>C (p.Asp802=) rs145508640 0.00032
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_007375.4(TARDBP):c.*2333C>T rs138320721 0.00026
NM_004738.5(VAPB):c.*3805G>C rs561048421 0.00025
NM_004960.3(FUS):c.*1089G>A rs184277413 0.00025
NM_004738.5(VAPB):c.*3764C>T rs376626781 0.00023
NM_004960.4(FUS):c.1080C>T (p.Ser360=) rs190724342 0.00022
NM_004738.5(VAPB):c.492C>T (p.Thr164=) rs139884809 0.00021
NM_000306.4(POU1F1):c.666-6C>T rs201995103 0.00019
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_004960.3(FUS):c.*1286C>G rs547623704 0.00016
NM_004960.4(FUS):c.687T>C (p.Gly229=) rs781445592 0.00014
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850 0.00014
NM_004738.5(VAPB):c.*5851C>A rs772661395 0.00013
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter) rs138886714 0.00013
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_004960.4(FUS):c.1169-11A>G rs181859716 0.00010
NM_000454.5(SOD1):c.-26A>G rs571199057 0.00009
NM_007375.4(TARDBP):c.945G>A (p.Ala315=) rs145364830 0.00009
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) rs551339249 0.00009
NM_018834.6(MATR3):c.2543A>G (p.Ter848=) rs200664940 0.00009
NM_004960.3(FUS):c.*1375C>T rs542241137 0.00007
NM_004738.5(VAPB):c.*4265G>A rs780267648 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 0.00006
NM_007126.5(VCP):c.*15C>T rs762559031 0.00004
NM_007375.4(TARDBP):c.720G>A (p.Ala240=) rs765175133 0.00004
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 0.00004
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser) rs201533156 0.00003
NM_001097577.3(ANG):c.441G>A (p.Pro147=) rs759928848 0.00002
NM_004738.5(VAPB):c.*2885G>C rs578172184 0.00002
NM_007126.5(VCP):c.812-7C>G rs764429197 0.00002
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 0.00001
NM_001097577.3(ANG):c.365C>T (p.Ala122Val) rs374766597 0.00001
NM_004960.3(FUS):c.*2348G>A rs775218493 0.00001
NM_018834.6(MATR3):c.15C>T (p.Phe5=) rs184609870 0.00001
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433 0.00001
NM_000306.4(POU1F1):c.*139dup rs368061882
NM_001008212.2(OPTN):c.-164+13A>G rs556917167
NM_001097577.3(ANG):c.*10C>T rs778543068
NM_001097577.3(ANG):c.99C>T (p.Phe33=) rs563139057
NM_004738.5(VAPB):c.*5479C>T rs554455751
NM_004738.5(VAPB):c.-150C>G rs572151788
NM_004960.3(FUS):c.*2955A>G rs149361851
NM_004960.3(FUS):c.*814T>C rs772679520
NM_004960.4(FUS):c.*132C>A rs565540429
NM_007375.4(TARDBP):c.-12-10_-12-9del rs575825467
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys) rs368217486

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