ClinVar Miner

List of variants studied for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions by Athena Diagnostics Inc

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_002087.3(GRN):c.1227G>A (p.Thr409=) rs140298583
NM_002087.3(GRN):c.264+7G>A rs60100877
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.1297C>T (p.Arg433Trp) rs63750412
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742

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