List of variants in gene TBCK reported as pathogenic by Undiagnosed Diseases Network, NIH

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: 5

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HGVS	dbSNP	gnomAD frequency
NC_000004.12:g.106168703_106217941del
NM_001163435.3(TBCK):c.1860+1G>A	rs1303851095
NM_001163435.3(TBCK):c.2060-6793_2235+427del
NM_001163435.3(TBCK):c.2060_2235+1del	rs1560755661
NM_001163435.3(TBCK):c.659-1G>A	rs1579391376

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