ClinVar Miner

List of variants reported as pathogenic for benign neoplasm of parathyroid gland by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (5):

Gastrointestinal stromal tumor; Parathyroid gland adenoma; Thyroid adenoma; Chronic diarrhea; Diabetes mellitus; Hypertensive disorder
Parathyroid gland adenoma
Parathyroid gland adenoma; Hypercalcemia; Hypertrophic cardiomyopathy; Hypocalciuria
Parathyroid gland adenoma; Hypophosphatemic rickets
Primary hyperparathyroidism; Medullary thyroid carcinoma; Parathyroid gland adenoma; Calcium nephrolithiasis; Pancreatic insulin-producing neuroendocrine tumor; Abnormal circulating calcium concentration

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001370259.2(MEN1):c.371_372del (p.Val124fs)	rs1555166368
NM_001370259.2(MEN1):c.654+1del	rs1057518903

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