ClinVar Miner

List of variants reported as likely benign for Kleefstra syndrome by Mendelics

Included ClinVar conditions (6):

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_024757.5(EHMT1):c.737G>A (p.Arg246Gln)	rs144871446	0.00092
NM_024757.5(EHMT1):c.1553C>G (p.Pro518Arg)	rs1287556019
NM_024757.5(EHMT1):c.389_397del (p.Pro130_Leu132del)	rs1588328189

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