ClinVar Miner

List of variants in gene DOK7 reported as likely pathogenic by Hadassah Hebrew University Medical Center

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_173660.5(DOK7):c.773-2_773-1del	rs770163440	0.00002
NM_173660.5(DOK7):c.439del (p.Ala147fs)	rs1577153029

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