ClinVar Miner

List of variants reported as likely benign for benign neoplasm of eye

Included ClinVar conditions (9):

Cerebellar hemangioblastoma; Pancreatic cysts; Retinal capillary hemangioma; Spinal hemangioblastoma
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
Hypertelorism; Congenital cleft nose; Low-set ears; Tessier cleft; Facial asymmetry; Upper eyelid coloboma; Limbal dermoid; Pericallosal lipoma; Skin tags; Abnormal frontal bone morphology
Large congenital melanocytic nevus; Linear nevus sebaceous syndrome; Malignant tumor of urinary bladder; Costello syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2
Large congenital melanocytic nevus; Neurocutaneous melanocytosis; Linear nevus sebaceous syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type 4; Colorectal cancer
Linear nevus sebaceous syndrome
Linear nevus sebaceous syndrome; Costello syndrome
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
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_005343.4(HRAS):c.357C>T (p.Asp119=)	rs111352454	0.00121
NM_033360.4(KRAS):c.5-18A>G	rs200189105	0.00100
NM_004985.5(KRAS):c.24A>G (p.Val8=)	rs147406419	0.00025
NM_005343.4(HRAS):c.330C>T (p.Pro110=)	rs200747280	0.00011
NM_033360.4(KRAS):c.90C>T (p.Asp30=)	rs113623140	0.00011
NM_033360.4(KRAS):c.4+5G>A	rs201789109	0.00006
NM_004985.5(KRAS):c.451-5652C>T	rs727505314	0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)	rs397517144	0.00004
NM_004985.5(KRAS):c.112-9C>T	rs727504298
NM_005343.4(HRAS):c.291-6T>G	rs766909143

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