List of variants in gene TBK1 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu)	rs756751089	0.00001
NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys)	rs748112833	0.00001
NM_013254.4(TBK1):c.1340+1G>A	rs767898276
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs)	rs876657404
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs)	rs876657405
NM_013254.4(TBK1):c.2138+2T>C	rs876657406
NM_013254.4(TBK1):c.958del (p.Thr320fs)	rs755950225

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