ClinVar Miner

List of variants reported as likely pathogenic for fetal akinesia deformation sequence by Pediatrics Genetics, Post Graduate Institute of Medical Education and Research

Included ClinVar conditions (14):

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

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001367561.1(DOCK7):c.1511_1513del (p.Pro504_Ile505delinsLeu)

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