ClinVar Miner

List of variants in gene CHMP2B, POU1F1 studied for behavioral variant of frontotemporal dementia

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000306.4(POU1F1):c.*140A>T rs33936108 0.33253
NM_014043.4(CHMP2B):c.*1589G>A rs1060241 0.22762
NM_000306.4(POU1F1):c.*139T>A rs4988463 0.14040
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_000306.4(POU1F1):c.666-6C>T rs201995103 0.00019
NC_000003.11:g.(?_87276673)_(87325612_?)del
NM_000306.4(POU1F1):c.*138T>A rs190287993
NM_000306.4(POU1F1):c.*139dup rs368061882
NM_000306.4(POU1F1):c.*213= rs6792500

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