ClinVar Miner

List of variants studied for Menke-Hennekam syndrome by Genome-Nilou Lab

Included ClinVar conditions (6):

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.2053+8G>T	rs6002267	0.96326
NM_001429.4(EP300):c.3183T>A (p.Thr1061=)	rs20552	0.59984
NM_001429.4(EP300):c.4453-23T>C	rs2076577	0.51146
NM_001429.4(EP300):c.4452+20C>T	rs6002271	0.24366
NM_001429.4(EP300):c.2989A>G (p.Ile997Val)	rs20551	0.22427

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