ClinVar Miner

List of variants reported as benign for Hawkinsinuria

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002150.3(HPD):c.97A>G (p.Thr33Ala) rs1154510 0.88222
NM_001171993.2(HPD):c.-115+47G>A rs3741591 0.31802
NM_002150.3(HPD):c.94-6A>T rs2707072 0.12768
NM_002150.3(HPD):c.338G>A (p.Arg113Gln) rs11833399 0.02263
NM_002150.3(HPD):c.1018G>T (p.Val340Leu) rs36023382 0.01235
NM_002150.3(HPD):c.345C>T (p.Ala115=) rs59741465 0.00670
NM_002150.3(HPD):c.15T>G (p.Ser5Arg) rs35849100 0.00625
NM_002150.3(HPD):c.414G>A (p.Thr138=) rs140788110 0.00479
NM_002150.3(HPD):c.498G>A (p.Met166Ile) rs149081239 0.00141
NM_002150.3(HPD):c.294C>T (p.Phe98=) rs117079110 0.00048
NM_002150.3(HPD):c.895C>T (p.Leu299=) rs144544907 0.00041
NM_002150.3(HPD):c.954+14A>C rs200866898 0.00039
NM_002150.3(HPD):c.836G>A (p.Arg279His) rs140144597 0.00005
NM_002150.3(HPD):c.93+9C>T rs542121054 0.00002
NM_002150.3(HPD):c.765T>C (p.Tyr255=) rs767720774 0.00001
NM_002150.3(HPD):c.543C>T (p.Ile181=) rs756242095

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.