ClinVar Miner

List of variants reported as benign for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions by Illumina Laboratory Services, Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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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_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_000306.4(POU1F1):c.*139T>A rs4988463 0.14040
NM_002087.4(GRN):c.835+7G>A rs72824736 0.04753
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_002087.4(GRN):c.*280G>A rs116547342 0.01005
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00356
NM_002087.4(GRN):c.-38T>C rs530686556 0.00325
NM_002087.4(GRN):c.626C>T (p.Pro209Leu) rs368995988 0.00008
NM_000306.4(POU1F1):c.*138T>A rs190287993
NM_000306.4(POU1F1):c.*213= rs6792500
NM_007375.4(TARDBP):c.*2294_*2295insGTTTT rs3059695

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