List of variants in gene CLCN7 reported as uncertain significance for Autosomal recessive osteopetrosis 4

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

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001287.6(CLCN7):c.1534G>A (p.Gly512Arg)	rs763164345	0.00001
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser)	rs367567630	0.00001
NM_001287.6(CLCN7):c.913G>A (p.Val305Met)	rs558354107	0.00001
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg)	rs1555465003
NM_001287.6(CLCN7):c.1208G>A (p.Arg403Gln)	rs765444328
NM_001287.6(CLCN7):c.1637A>G (p.Lys546Arg)	rs2505816613
NM_001287.6(CLCN7):c.1810A>G (p.Met604Val)
NM_001287.6(CLCN7):c.202C>T (p.Leu68Phe)	rs926749321
NM_001287.6(CLCN7):c.436_438del (p.Ile146del)	rs2505845500
NM_001287.6(CLCN7):c.608G>A (p.Gly203Asp)	rs2505840413
NM_001287.6(CLCN7):c.629A>G (p.Lys210Arg)	rs2505840341

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.