ClinVar Miner

List of variants studied for hyperparathyroidism by GenomeConnect, ClinGen

Included ClinVar conditions (16):

Bartter disease type 3; Familial hypoparathyroidism; Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1
Familial isolated hyperparathyroidism
Hyperparathyroidism
Hyperparathyroidism 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 4
Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2
Hyperparathyroidism, transient neonatal
Multiple endocrine neoplasia, type 1
Neonatal severe primary hyperparathyroidism
Neonatal severe primary hyperparathyroidism; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Bartter syndrome with hypocalcemia
Primary hyperparathyroidism
Primary hyperparathyroidism; Medullary thyroid carcinoma; Parathyroid gland adenoma; Calcium nephrolithiasis; Pancreatic insulin-producing neuroendocrine tumor; Abnormal circulating calcium concentration
Slender long bone; Hyperparathyroidism; Embryonic calcium dysregulation; Metaphyseal fractures

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)	rs607969	0.01309
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)	rs794728620

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