ClinVar Miner

List of variants reported as likely benign for Frontotemporal dementia by Illumina Laboratory Services, Illumina

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014043.4(CHMP2B):c.*1503G>C rs1060238 0.03503
NM_014043.4(CHMP2B):c.*1190G>T rs115892684 0.02804
NM_007375.4(TARDBP):c.*208G>A rs148414479 0.02507
NM_007375.4(TARDBP):c.*2331A>G rs114897688 0.02160
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845 0.01301
NM_006610.4(MASP2):c.*184C>T rs115750484 0.00452
NM_014043.4(CHMP2B):c.*899T>A rs186472338 0.00142
NM_000306.4(POU1F1):c.666-6C>T rs201995103 0.00019
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_000306.4(POU1F1):c.*139dup rs368061882
NM_007375.4(TARDBP):c.-12-10_-12-9del rs575825467

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