List of variants reported as pathogenic for Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.166G>T (p.Glu56Ter)	rs1358793834	0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His)	rs773146939	0.00001
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)	rs104893708
NM_000388.4(CASR):c.380A>C (p.Glu127Ala)	rs121909260
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	rs104893689
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)	rs1482119762
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)	rs397514728
NM_000388.4(CASR):c.679C>T (p.Arg227Ter)	rs1085307984
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)	rs28936684

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.