Variants in gene CASQ2 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status:		Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely benign) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)	rs28730716	0.02511
NM_001232.4(CASQ2):c.226G>A (p.Val76Met)	rs10801999	0.01289
NM_001232.4(CASQ2):c.198G>A (p.Thr66=)	rs74114618	0.00243
NM_001232.4(CASQ2):c.421-14G>A	rs139281637	0.00159
NM_001232.4(CASQ2):c.861C>A (p.Ile287=)	rs143718767	0.00028
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)	rs72554056	0.00006
NM_001232.4(CASQ2):c.421-7A>T	rs776008006	0.00003
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)	rs397516641
NM_001232.4(CASQ2):c.421-15C>G	rs199939582
NM_001232.4(CASQ2):c.738-12_738-5del	rs56889721
NM_001232.4(CASQ2):c.738-6_738-5del	rs56889721
NM_001232.4(CASQ2):c.738-7_738-5del	rs56889721
NM_001232.4(CASQ2):c.738-8_738-5del	rs56889721

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.