ClinVar Miner

List of variants studied for Frontotemporal dementia by Human Genetics Group at Institute of Prion Diseases London, University College London

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002087.4(GRN):c.1446C>A (p.Cys482Ter) rs1567888461 0.00001
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala) rs1566630811
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr) rs1566630884
NM_001377265.1(MAPT):c.2228A>G (p.Gln743Arg) rs1568339821
NM_002087.4(GRN):c.1179G>A (p.Glu393=) rs1567887777
NM_002087.4(GRN):c.232dup (p.Ser78fs) rs1567885658
NM_002087.4(GRN):c.385dup (p.Ser129fs) rs1567886206
NM_002087.4(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.4(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs) rs1567886445
NM_002087.4(GRN):c.560del (p.Leu187fs) rs1567886478
NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer) rs63751035
NM_002087.4(GRN):c.759_760dup (p.Asp254fs) rs63751035
NM_002087.4(GRN):c.776dup (p.Cys260fs) rs1567887015
NP_002078.1(GRN):p.Ser449_Thr455del

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