List of variants in gene TBK1 reported as likely pathogenic for anterior horn disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)	rs765106259
NM_013254.4(TBK1):c.1189+1G>A	rs2136078402
NM_013254.4(TBK1):c.1189+1G>T	rs2136078402
NM_013254.4(TBK1):c.1341-1G>C
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs)	rs876657405
NM_013254.4(TBK1):c.1443-1G>T
NM_013254.4(TBK1):c.1644-2A>T
NM_013254.4(TBK1):c.1863-1G>A
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del)	rs1402092579
NM_013254.4(TBK1):c.1960-2A>T
NM_013254.4(TBK1):c.1978C>T (p.Gln660Ter)	rs2136088954
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del)	rs748007618
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)	rs757203783
NM_013254.4(TBK1):c.352G>A (p.Asp118Asn)

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