ClinVar Miner

List of variants studied for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions by Human Genetics Group at Institute of Prion Diseases London,University College London

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala) rs1566630811
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr) rs1566630884
NM_002087.3(GRN):c.1179G>A (p.Glu393=) rs1567887777
NM_002087.3(GRN):c.1446C>A (p.Cys482Ter) rs1567888461
NM_002087.3(GRN):c.232dup (p.Ser78fs) rs1567885658
NM_002087.3(GRN):c.385dup (p.Ser129fs) rs1567886206
NM_002087.3(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.3(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs) rs1567886445
NM_002087.3(GRN):c.560del (p.Leu187fs) rs1567886478
NM_002087.3(GRN):c.753_754TG[3] (p.Cys253_Asp254delinsTer) rs63751035
NM_002087.3(GRN):c.753_754TG[5] (p.Asp254fs) rs63751035
NM_002087.3(GRN):c.776dup (p.Cys260fs) rs1567887015
NM_016835.4(MAPT):c.2003A>G (p.Gln668Arg) rs1568339821
NP_002078.1(GRN):p.Ser449_Thr455del

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