ClinVar Miner

List of variants studied for capillary hemangioma by OMIM

Included ClinVar conditions (10):

Capillary hemangioma
Capillary infantile hemangioma
Capillary infantile hemangioma; Hereditary lymphedema type I; Congenital heart defects, multiple types, 7
Cerebellar hemangioblastoma; Pancreatic cysts; Retinal capillary hemangioma; Spinal hemangioblastoma
Epicanthus; Atrial septal defect; Inguinal hernia; Hydronephrosis; Hirsutism; Large earlobe; Abnormal facial shape; Short nose; Single transverse palmar crease; Synophrys; Thin vermilion border; Micropenis; Horseshoe kidney; Entropion; Reduced tendon reflexes; Umbilical hernia; Abnormal nail morphology; Mitral regurgitation; Aortic regurgitation; Capillary hemangioma; 2-3 toe cutaneous syndactyly; Hypotonia; Patent ductus arteriosus
Global developmental delay; Polymicrogyria; Macrocephaly; Capillary hemangioma
Kaposiform hemangioendothelioma; Congenital tufted angioma; Pyogenic granuloma
Pyogenic granuloma
Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangioma; Congenital talipes calcaneovalgus
Von Hippel-Lindau syndrome; Cerebellar hemangioblastoma; Papillary renal cell carcinoma type 1; Skin adenoma

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg)	rs34231037	0.02299
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser)	rs34255532	0.00275
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser)	rs121917766	0.00003
NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr)	rs119475040	0.00001

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