ClinVar Miner

List of variants studied for hereditary hyperparathyroidism by Suma Genomics

Included ClinVar conditions (12):

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 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004752.4(GCM2):c.1148T>C (p.Ile383Thr)	rs2113243235
NM_018646.6(TRPV6):c.1969G>A (p.Gly657Arg)
NM_018646.6(TRPV6):c.254G>A (p.Trp85Ter)

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