ClinVar Miner

List of variants studied for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 122
Download table as spreadsheet
HGVS dbSNP
NM_000306.4(POU1F1):c.*138T>A rs190287993
NM_000306.4(POU1F1):c.*139T>A rs4988463
NM_000306.4(POU1F1):c.*139dup rs368061882
NM_000306.4(POU1F1):c.*140A>T rs33936108
NM_000306.4(POU1F1):c.*213= rs6792500
NM_000306.4(POU1F1):c.666-5G>A rs76296626
NM_000306.4(POU1F1):c.666-6C>T rs201995103
NM_002087.3(GRN):c.*280G>A rs116547342
NM_002087.3(GRN):c.-100A>G rs956983853
NM_002087.3(GRN):c.-173C>T rs886053004
NM_002087.3(GRN):c.-179G>C rs886053003
NM_002087.3(GRN):c.-212G>A rs886053002
NM_002087.3(GRN):c.-38T>C rs530686556
NM_002087.3(GRN):c.-45C>G rs563336550
NM_002087.3(GRN):c.-72G>T rs76783532
NM_002087.3(GRN):c.100C>G (p.Pro34Ala) rs748147151
NM_002087.3(GRN):c.1083_1084GA[2] (p.Asp363fs) rs1567887576
NM_002087.3(GRN):c.1120_1122TCC[1] (p.Ser375del) rs754862784
NM_002087.3(GRN):c.1179+6T>C rs765761482
NM_002087.3(GRN):c.139-3T>C rs371119011
NM_002087.3(GRN):c.1468G>A (p.Val490Met) rs886053006
NM_002087.3(GRN):c.1641C>T (p.Arg547=) rs149658268
NM_002087.3(GRN):c.1647C>T (p.Gly549=) rs745391227
NM_002087.3(GRN):c.228C>T (p.Thr76=) rs144736470
NM_002087.3(GRN):c.264+7G>A rs60100877
NM_002087.3(GRN):c.268G>A (p.Val90Met) rs200019356
NM_002087.3(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002087.3(GRN):c.497C>T (p.Pro166Leu) rs368705304
NM_002087.3(GRN):c.546G>A (p.Thr182=) rs138473783
NM_002087.3(GRN):c.835+7G>A rs72824736
NM_002087.4(GRN):c.*12G>T
NM_002087.4(GRN):c.*246A>G
NM_002087.4(GRN):c.*273C>T
NM_002087.4(GRN):c.*30G>A
NM_002087.4(GRN):c.*78C>T rs5848
NM_002087.4(GRN):c.-22C>T
NM_002087.4(GRN):c.-8+3A>C
NM_002087.4(GRN):c.1019A>T (p.His340Leu)
NM_002087.4(GRN):c.1180-8C>A
NM_002087.4(GRN):c.1180-8C>T
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg)
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu) rs63750537
NM_002087.4(GRN):c.1518C>T (p.Thr506=)
NM_002087.4(GRN):c.1521C>T (p.Phe507=)
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647
NM_002087.4(GRN):c.1548G>T (p.Val516=)
NM_002087.4(GRN):c.1560G>T (p.Glu520Asp)
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723
NM_002087.4(GRN):c.57G>T (p.Arg19=)
NM_002087.4(GRN):c.626C>T (p.Pro209Leu)
NM_002087.4(GRN):c.709-12G>C
NM_002087.4(GRN):c.835+14G>C
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142
NM_002087.4(GRN):c.933+15C>T
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541
NM_002087.4(GRN):c.99C>A (p.Asp33Glu)
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_006610.4(MASP2):c.*184C>T rs115750484
NM_006610.4(MASP2):c.*225T>C rs1033638
NM_006610.4(MASP2):c.1479C>T (p.Ser493=) rs1782455
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845
NM_007375.3(TARDBP):c.*1008T>G rs141412238
NM_007375.3(TARDBP):c.*1081C>T rs184303021
NM_007375.3(TARDBP):c.*1084A>T rs886045041
NM_007375.3(TARDBP):c.*129T>C rs886045036
NM_007375.3(TARDBP):c.*1597_*1600del rs748047297
NM_007375.3(TARDBP):c.*159A>C rs886045037
NM_007375.3(TARDBP):c.*1622A>T rs551513393
NM_007375.3(TARDBP):c.*1623T>A rs566657331
NM_007375.3(TARDBP):c.*1633del rs886045043
NM_007375.3(TARDBP):c.*1795A>G rs886045044
NM_007375.3(TARDBP):c.*2005T>C rs886045045
NM_007375.3(TARDBP):c.*2029C>T rs886045046
NM_007375.3(TARDBP):c.*2046T>G rs886045047
NM_007375.3(TARDBP):c.*208G>A rs148414479
NM_007375.3(TARDBP):c.*214T>C rs557787340
NM_007375.3(TARDBP):c.*2154G>T rs886045048
NM_007375.3(TARDBP):c.*2252A>G rs552057039
NM_007375.3(TARDBP):c.*2294_*2295insGTTTT rs3059695
NM_007375.3(TARDBP):c.*2331A>G rs114897688
NM_007375.3(TARDBP):c.*2334G>A rs182302907
NM_007375.3(TARDBP):c.*2360C>T rs886045049
NM_007375.3(TARDBP):c.*2538del rs886045050
NM_007375.3(TARDBP):c.*2740G>A rs566658679
NM_007375.3(TARDBP):c.*2750G>A rs779882516
NM_007375.3(TARDBP):c.*2773A>G rs187380325
NM_007375.3(TARDBP):c.*2829dup rs886045051
NM_007375.3(TARDBP):c.*505del rs886045038
NM_007375.3(TARDBP):c.*666G>A rs778834503
NM_007375.3(TARDBP):c.*842G>A rs886045039
NM_007375.3(TARDBP):c.*862G>T rs886045040
NM_007375.3(TARDBP):c.*963C>T rs751628760
NM_007375.3(TARDBP):c.-110C>T rs577981181
NM_007375.3(TARDBP):c.-117G>A rs886045031
NM_007375.3(TARDBP):c.-12-10_-12-9del rs575825467
NM_007375.3(TARDBP):c.-122G>A rs11121679
NM_007375.3(TARDBP):c.-126G>T rs886045030
NM_007375.3(TARDBP):c.-42C>T rs886045033
NM_007375.3(TARDBP):c.-77G>A rs886045032
NM_007375.3(TARDBP):c.1098C>G (p.Ala366=) rs148325203
NM_007375.3(TARDBP):c.198T>C (p.Ala66=) rs61730366
NM_007375.3(TARDBP):c.238+9C>T rs376560308
NM_007375.3(TARDBP):c.239-15G>A rs200066188
NM_007375.3(TARDBP):c.499A>G (p.Met167Val) rs886045035
NM_007375.3(TARDBP):c.675A>G (p.Pro225=) rs61741294
NM_007375.3(TARDBP):c.720G>A (p.Ala240=) rs765175133
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.*1190G>T rs115892684
NM_014043.4(CHMP2B):c.*1503G>C rs1060238
NM_014043.4(CHMP2B):c.*1589G>A rs1060241
NM_014043.4(CHMP2B):c.*1641A>C rs886058912
NM_014043.4(CHMP2B):c.*899T>A rs186472338
NM_014043.4(CHMP2B):c.*92dup rs886058906
NM_014043.4(CHMP2B):c.*955_*960del rs886058909

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.