ClinVar Miner

List of variants reported as benign 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: 17
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HGVS dbSNP
NM_000306.4(POU1F1):c.*138T>A rs190287993
NM_000306.4(POU1F1):c.*139T>A rs4988463
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_002087.3(GRN):c.*280G>A rs116547342
NM_002087.3(GRN):c.-38T>C rs530686556
NM_002087.3(GRN):c.835+7G>A rs72824736
NM_002087.4(GRN):c.*78C>T rs5848
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.626C>T (p.Pro209Leu)
NM_006610.4(MASP2):c.*225T>C rs1033638
NM_006610.4(MASP2):c.1479C>T (p.Ser493=) rs1782455
NM_007375.3(TARDBP):c.*2294_*2295insGTTTT rs3059695
NM_007375.3(TARDBP):c.-122G>A rs11121679
NM_014043.4(CHMP2B):c.*1589G>A rs1060241

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