ClinVar Miner

List of variants studied for partial deletion of the short arm of chromosome 16 by Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ

Included ClinVar conditions (6):

16p13.11 microdeletion syndrome
Chromosome 16p12.1 deletion syndrome, 520kb
Chromosome 16p12.2-p11.2 deletion syndrome
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1

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