ClinVar Miner

List of variants reported as benign for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_006610.4(MASP2):c.*225T>C rs1033638 0.69325
NM_006610.4(MASP2):c.1479C>T (p.Ser493=) rs1782455 0.67756
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_002087.4(GRN):c.*78C>T rs5848 0.41298
NM_000306.4(POU1F1):c.*140A>T rs33936108 0.33253
NM_014043.4(CHMP2B):c.*1589G>A rs1060241 0.22762
NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His) rs2258689 0.21570
NM_002087.4(GRN):c.264+21G>A rs9897526 0.19972
NM_002087.4(GRN):c.-8+46G>T rs564341543 0.19681
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_000306.4(POU1F1):c.*139T>A rs4988463 0.14040
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_000021.3(PSEN1):c.-296C>T rs1800839 0.05747
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu) rs73314997 0.05622
NM_002087.4(GRN):c.835+7G>A rs72824736 0.04753
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=) rs11568305 0.03866
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.02616
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_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_001377265.1(MAPT):c.862G>A (p.Gly288Arg) rs76375268 0.01093
NM_002087.4(GRN):c.*280G>A rs116547342 0.01005
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_002087.3(GRN):c.-72G>T rs76783532 0.00635
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_002087.4(GRN):c.42G>A (p.Leu14=) rs111435385 0.00533
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00356
NM_000021.3(PSEN1):c.-528C>G rs34086577 0.00339
NM_002087.4(GRN):c.546G>A (p.Thr182=) rs138473783 0.00335
NM_002087.4(GRN):c.1227G>A (p.Thr409=) rs140298583 0.00326
NM_002087.4(GRN):c.-38T>C rs530686556 0.00325
NM_001377265.1(MAPT):c.896T>G (p.Val299Gly) rs141120474 0.00235
NM_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00213
NM_001377265.1(MAPT):c.1732+2364C>T rs187760483 0.00195
NM_001377265.1(MAPT):c.117G>A (p.Thr39=) rs63750529 0.00154
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) rs139863395 0.00150
NM_001377265.1(MAPT):c.912C>G (p.Pro304=) rs142327009 0.00112
NM_002087.4(GRN):c.228C>T (p.Thr76=) rs144736470 0.00086
NM_002087.4(GRN):c.708+8A>T rs370878457 0.00066
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669 0.00041
NM_001377265.1(MAPT):c.643C>T (p.Pro215Ser) rs151115928 0.00019
NM_001377265.1(MAPT):c.1732+2367C>G rs267604921 0.00013
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359 0.00011
NM_001377265.1(MAPT):c.2406T>C (p.Asn802=) rs115381139 0.00009
NM_002087.4(GRN):c.626C>T (p.Pro209Leu) rs368995988 0.00008
NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu) rs143138715 0.00006
NM_000021.4(PSEN1):c.138C>T (p.His46=) rs116882898 0.00003
NM_002087.4(GRN):c.267C>T (p.Ala89=) rs201699327 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_000306.4(POU1F1):c.*138T>A rs190287993
NM_000306.4(POU1F1):c.*213= rs6792500
NM_001377265.1(MAPT):c.1761C>T (p.Ser587=)
NM_001377265.1(MAPT):c.1974G>A (p.Leu658=) rs373081497
NM_002087.4(GRN):c.1180-3del
NM_002087.4(GRN):c.350-50_350-47dup rs34424835
NM_002087.4(GRN):c.414G>C (p.Thr138=) rs543344476
NM_002087.4(GRN):c.463-6dup rs780699082
NM_002087.4(GRN):c.933+11del
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_007375.4(TARDBP):c.*2294_*2295insGTTTT rs3059695

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