ClinVar Miner

List of variants studied for secondary avascular necrosis by Genome-Nilou Lab

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1225-34C>A rs3115534 0.94932
NM_000412.5(HRG):c.1478A>T (p.Asn493Ile) rs1042464 0.56222
NM_000488.4(SERPINC1):c.1011A>G (p.Gln337=) rs5878 0.48194
NM_000488.4(SERPINC1):c.981A>G (p.Val327=) rs5877 0.48114
NM_000412.5(HRG):c.610C>T (p.Pro204Ser) rs9898 0.42606
NM_000157.4(GBA1):c.454+47G>A rs2075569 0.41024
NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) rs1042445 0.27106
NM_000488.4(SERPINC1):c.1218+27G>C rs677 0.09086
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile) rs149487315 0.00091
NM_000157.4(GBA1):c.1224G>A (p.Thr408=) rs138498426 0.00022
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000157.4(GBA1):c.168C>T (p.Val56=) rs145773486 0.00011
NM_000157.4(GBA1):c.1455A>G (p.Ala485=) rs199928507 0.00004
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met) rs757930613 0.00002
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.1474G>A (p.Asp492Asn) rs779958429
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu) rs369068553
NM_000157.4(GBA1):c.533del (p.Pro178fs) rs397518434
NM_000157.4(GBA1):c.898G>A (p.Ala300Thr) rs1671824775

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.