ClinVar Miner

List of variants reported as likely benign for Menke-Hennekam syndrome 2 by 3billion

Included ClinVar conditions (4):

Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Menke-Hennekam syndrome 2

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)	rs143660871
NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)	rs2517817737
NM_001429.4(EP300):c.4756G>T (p.Ala1586Ser)	rs1480723806

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