ClinVar Miner

List of variants reported as pathogenic for familial hypocalciuric hypercalcemia by Molecular Genetics Laboratory, Biobizkaia Health Research Institute

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.121C>A (p.His41Asn)
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)	rs104893716
NM_000388.4(CASR):c.164C>T (p.Pro55Leu)	rs886041154
NM_000388.4(CASR):c.1711G>T (p.Gly571Trp)
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)	rs104893705
NM_000388.4(CASR):c.659G>A (p.Arg220Gln)	rs1202110240
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys)	rs397514498
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu)	rs397514499

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