ClinVar Miner

List of variants studied for familial hypocalciuric hypercalcemia by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (10):

Bartter disease type 3; Familial hypoparathyroidism; Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 2
Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2
Familial hypocalciuric hypercalcemia 3
Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
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
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.1786A>C (p.Thr596Pro)
NM_000388.4(CASR):c.190A>G (p.Asn64Asp)	rs2107627423
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)	rs193922433
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys)	rs397514498
NM_004069.6(AP2S1):c.44G>A (p.Arg15His)	rs397514499

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