ClinVar Miner

List of variants in gene NPC1 reported as likely benign by PreventionGenetics,PreventionGenetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val) rs774588125
NM_000271.5(NPC1):c.1170G>A (p.Leu390=) rs369109734
NM_000271.5(NPC1):c.1947+13_1947+14insT rs1555634643
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2100C>T (p.Asp700=) rs372517881
NM_000271.5(NPC1):c.2397C>T (p.Cys799=) rs769196521
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.5(NPC1):c.3477+15A>G rs369049242
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3592-42G>C rs149111199
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.5(NPC1):c.881+37C>G rs142700149
NM_000271.5(NPC1):c.956-11C>T rs780491021

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.