ClinVar Miner

List of variants in gene GRN reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.25del (p.Ala9fs) rs2048347685
NM_002087.4(GRN):c.599-2A>G rs1191556044
NM_002087.4(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.4(GRN):c.78C>A (p.Cys26Ter) rs2143325486

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