ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome 5 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):

Cornelia de Lange syndrome 5

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: 4

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_71681834)_(71715138_?)dup
NM_018486.3(HDAC8):c.1005+2T>C	rs2148039062
NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser)	rs1555949010
NM_018486.3(HDAC8):c.738-2A>G

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