ClinVar Miner

List of variants reported as uncertain significance for cardiofaciocutaneous syndrome 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004333.6(BRAF):c.1146G>C (p.Leu382Phe)	rs1801519948
NM_004333.6(BRAF):c.67A>G (p.Met23Val)	rs1818671266
NM_004333.6(BRAF):c.712-221T>C	rs1803141356
NM_004333.6(BRAF):c.789_790del (p.Cys264fs)	rs1803104915

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