ClinVar Miner

List of variants reported as uncertain significance for aortic valve disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
NM_000501.4(ELN):c.*1062dup rs574934142
NM_000501.4(ELN):c.*1145dup rs886062436
NM_000501.4(ELN):c.*251C>T rs886062430
NM_000501.4(ELN):c.*458C>T rs886062431
NM_000501.4(ELN):c.*489G>T rs886062432
NM_000501.4(ELN):c.*570G>A rs565400803
NM_000501.4(ELN):c.*629T>C rs776424755
NM_000501.4(ELN):c.*663C>T rs886062433
NM_000501.4(ELN):c.*794C>T rs185988110
NM_000501.4(ELN):c.*997G>T rs886062434
NM_000501.4(ELN):c.1096+12TG[18] rs10579871
NM_000501.4(ELN):c.1096+12TG[20] rs10579871
NM_000501.4(ELN):c.1096+12TG[21] rs10579871
NM_000501.4(ELN):c.1096+12TG[22] rs10579871
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795
NM_000501.4(ELN):c.1281C>T (p.Pro427=) rs376496267
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) rs139335797
NM_000501.4(ELN):c.163+13A>G rs782388951
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888
NM_001278918.1(ELN):c.-70G>C rs537200597

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.