ClinVar Miner

List of variants studied for familial hypocalciuric hypercalcemia 1 by Institute of Human Genetics, Cologne University

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

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.1273T>C (p.Tyr425His)
NM_000388.4(CASR):c.1693T>C (p.Cys565Arg)	rs1559967708
NM_000388.4(CASR):c.2339C>A (p.Thr780Asn)	rs754332943
NM_000388.4(CASR):c.2637C>G (p.His879Gln)	rs1576878230
NM_000388.4(CASR):c.516A>T (p.Arg172Ser)	rs1114167368

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