ClinVar Miner

List of variants reported for Hereditary disease by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_022042.4(SLC26A1):c.*877C>T rs200911718 0.00276
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761 0.00016
NM_000486.6(AQP2):c.735T>C (p.Asp245=) rs201195539 0.00003
NM_000352.6(ABCC8):c.414C>T (p.Ala138=) rs372766371 0.00002
NM_000091.5(COL4A3):c.2712G>A (p.Gly904=) rs781672496 0.00001

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.