ClinVar Miner

List of variants in gene SOS2 studied for Noonan syndrome 1

Included ClinVar conditions (11):

Autosomal recessive multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome
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
Melorheostosis; Noonan syndrome 1; Cardiofaciocutaneous syndrome 3
Noonan syndrome 1
Noonan syndrome 1; Cardiofaciocutaneous syndrome 3
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1
Noonan syndrome 1; LEOPARD syndrome 1
Noonan syndrome 1; Metachondromatosis; LEOPARD syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu)	rs773672997	0.00002
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)	rs869320687

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