ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669
NM_000021.4(PSEN1):c.1248+8T>C rs362382
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) rs139863395
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
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.1227G>A (p.Thr409=) rs140298583
NM_002087.3(GRN):c.228C>T (p.Thr76=) rs144736470
NM_002087.3(GRN):c.264+7G>A rs60100877
NM_002087.3(GRN):c.350-50_350-47dup
NM_002087.3(GRN):c.42G>A (p.Leu14=) rs111435385
NM_002087.3(GRN):c.546G>A (p.Thr182=) rs138473783
NM_002087.3(GRN):c.835+7G>A rs72824736
NM_002087.4(GRN):c.*78C>T rs5848
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647
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_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
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
NM_016835.4(MAPT):c.1108C>T (p.Arg370Trp) rs17651549
NM_016835.4(MAPT):c.1339T>C (p.Ser447Pro) rs10445337
NM_016835.4(MAPT):c.1483G>A (p.Ala495Thr) rs63750612
NM_016835.4(MAPT):c.1507+2364C>T
NM_016835.4(MAPT):c.1507+2367C>G
NM_016835.4(MAPT):c.1749G>A (p.Leu583=) rs373081497
NM_016835.4(MAPT):c.1761G>A (p.Pro587=) rs11568305
NM_016835.4(MAPT):c.1866+29G>A rs63751443
NM_016835.4(MAPT):c.2181T>C (p.Asn727=)
NM_016835.4(MAPT):c.418C>T (p.Pro140Ser)
NM_016835.4(MAPT):c.637G>A (p.Gly213Arg) rs76375268
NM_016835.4(MAPT):c.687C>G (p.Pro229=)
NM_016835.4(MAPT):c.689A>G (p.Gln230Arg) rs63750072

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