ClinVar Miner

List of variants reported as pathogenic for Clark-Baraitser syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):

Clark-Baraitser syndrome

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter)	rs1553636520
NM_001348323.3(TRIP12):c.3869del (p.Leu1290fs)
NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs)	rs2154256586

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