ClinVar Miner

List of variants studied for Seizure; Feeding difficulties; Muscle weakness; EEG abnormality; Tapered finger; Absent speech; Open mouth; Macrocephaly; Decreased fetal movement; Cerebral cortical atrophy; Downturned corners of mouth; Recurrent fractures; Arthrogryposis multiplex congenita; Muscular atrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)	rs1064795760

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