ClinVar Miner

List of variants reported as likely pathogenic 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: 5
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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_016835.4(MAPT):c.2003A>G (p.Gln668Arg) rs1568339821
NP_002078.1(GRN):p.Ser449_Thr455del

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