ClinVar Miner

List of variants studied for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions by Translational Genetics in Neurodegenerative disease,Karolinska Institutet

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_002087.3(GRN):c.1212C>A (p.Cys404Ter) rs193026789
NM_002087.3(GRN):c.1246dup (p.Cys416fs) rs794729671
NM_002087.3(GRN):c.462+1G>C rs794729669
NM_002087.3(GRN):c.708+1G>A rs63749817
NM_002087.3(GRN):c.87dup (p.Cys30fs) rs794729672
NM_002087.3(GRN):c.882T>G (p.Tyr294Ter) rs794729670

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