List of variants reported as likely benign 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: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)	rs62269092	0.00163
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)	rs76327999	0.00034
NM_000388.4(CASR):c.27C>T (p.Val9=)	rs141880581	0.00016
NM_000388.4(CASR):c.1788C>T (p.Thr596=)	rs142778221	0.00009
NM_000388.4(CASR):c.2844G>A (p.Leu948=)	rs140586950	0.00009
NM_000388.4(CASR):c.825T>C (p.Asp275=)	rs199836910	0.00007
NM_000388.4(CASR):c.1554A>G (p.Gly518=)	rs138099808	0.00006
NM_000388.4(CASR):c.1377+17T>C	rs200650843	0.00002
NM_000388.4(CASR):c.675A>G (p.Lys225=)	rs202226622	0.00002
NM_000388.4(CASR):c.909C>G (p.Ser303=)	rs375005541	0.00002
NM_000388.4(CASR):c.1452C>T (p.Asp484=)	rs776775141	0.00001
NM_000388.4(CASR):c.1887T>C (p.Phe629=)	rs750220557	0.00001
NM_000388.4(CASR):c.2046G>A (p.Pro682=)	rs760450976	0.00001
NM_000388.4(CASR):c.2139C>T (p.Ser713=)	rs200384325	0.00001
NM_000388.4(CASR):c.2994G>A (p.Leu998=)	rs200260696	0.00001
NM_000388.4(CASR):c.3018G>A (p.Thr1006=)	rs748637478	0.00001
NM_000388.4(CASR):c.537A>G (p.Gln179=)	rs200129212	0.00001
NM_000388.4(CASR):c.738C>T (p.Tyr246=)	rs895337411	0.00001
NM_000388.4(CASR):c.813C>A (p.Ser271=)	rs759939185	0.00001
NM_000388.4(CASR):c.1116C>T (p.Thr372=)	rs539867627
NM_000388.4(CASR):c.1164G>A (p.Ser388=)	rs200898785
NM_000388.4(CASR):c.2439C>T (p.Ile813=)	rs1228810304
NM_000388.4(CASR):c.3234A>G (p.Ser1078=)	rs556263764
NM_000388.4(CASR):c.493-12G>T	rs199514129
NM_000388.4(CASR):c.54T>G (p.Ser18=)	rs558522564
NM_000388.4(CASR):c.876C>T (p.Ile292=)	rs772232871

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.