ClinVar Miner

List of variants reported as other by Centre for Genomic and Experimental Medicine, University of Edinburgh

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter) rs202115635 0.00006
NM_001199397.3(NEK1):c.214+1G>A rs1049502301 0.00002
NM_001199397.3(NEK1):c.1948del (p.Gln650fs) rs1131690774 0.00001
NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter) rs142030898 0.00001
NM_013254.4(TBK1):c.1432del (p.Thr478fs) rs1131690783
NM_013254.4(TBK1):c.2115_2127del (p.Glu706fs) rs1131690784

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