ClinVar Miner

List of variants reported as pathogenic for familial hypocalciuric hypercalcemia 1 by Mendelics

Included ClinVar conditions (4):

Bartter disease type 3; Familial hypoparathyroidism; Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Autosomal dominant hypocalcemia 1
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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.206G>A (p.Arg69His)	rs193922432	0.00001
NM_000388.4(CASR):c.139A>G (p.Lys47Glu)	rs2107624989

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