ClinVar Miner

List of variants studied for cardiofaciocutaneous syndrome 1 by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (6):

Cardiofaciocutaneous syndrome 1
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer
Cardiofaciocutaneous syndrome 1; Lung carcinoma; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7
Cardiofaciocutaneous syndrome 1; Noonan syndrome 1
Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn)	rs397507476
NM_004333.6(BRAF):c.1749T>G (p.Phe583Leu)	rs397507482
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	rs180177042

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