ClinVar Miner

List of variants in gene GRN reported as benign for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002087.4(GRN):c.*78C>T rs5848 0.40636
NM_002087.4(GRN):c.-8+46G>T rs564341543 0.23611
NM_002087.4(GRN):c.835+7G>A rs72824736 0.04551
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.03192
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_002087.3(GRN):c.-72G>T rs76783532 0.00635
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00514
NM_002087.4(GRN):c.42G>A (p.Leu14=) rs111435385 0.00511
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00327
NM_002087.4(GRN):c.1227G>A (p.Thr409=) rs140298583 0.00326
NM_002087.4(GRN):c.546G>A (p.Thr182=) rs138473783 0.00310
NM_002087.4(GRN):c.228C>T (p.Thr76=) rs144736470 0.00086
NM_002087.4(GRN):c.267C>T (p.Ala89=) rs201699327 0.00015
NM_002087.4(GRN):c.1180-3del rs777453246
NM_002087.4(GRN):c.414G>C (p.Thr138=) rs543344476
NM_002087.4(GRN):c.463-6dup rs780699082
NM_002087.4(GRN):c.933+11del rs766099642
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742

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