ClinVar Miner

List of variants in gene CHMP2B studied for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_014043.3(CHMP2B):c.-259C>A rs538600777
NM_014043.4(CHMP2B):c.*1008_*1011del rs886058911
NM_014043.4(CHMP2B):c.*106dup rs368297778
NM_014043.4(CHMP2B):c.*1190G>T rs115892684
NM_014043.4(CHMP2B):c.*1503G>C rs1060238
NM_014043.4(CHMP2B):c.*1641A>C rs886058912
NM_014043.4(CHMP2B):c.*899T>A rs186472338
NM_014043.4(CHMP2B):c.*92dup rs886058906
NM_014043.4(CHMP2B):c.*955_*960del rs886058909

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