ClinVar Miner

List of variants studied for Noonan syndrome 3 by Baylor Genetics

Included ClinVar conditions (6):

Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Noonan syndrome 3
Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Noonan syndrome 3; Cardiofaciocutaneous syndrome 2
Noonan syndrome 3; Linear nevus sebaceous syndrome; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2

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

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe)	rs1026930115	0.00009
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)	rs104894366
NM_004985.5(KRAS):c.202A>T (p.Arg68Trp)
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)	rs104894365
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	rs104894360
NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu)	rs1848438761
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)	rs730880471

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