ClinVar Miner

List of variants reported as pathogenic for Norum disease

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
LCAT, 1-BP INS, EX1
NM_000229.1(LCAT):c.1034C>T (p.Thr345Met) rs28940888
NM_000229.1(LCAT):c.1210A>G (p.Met404Val) rs779114194
NM_000229.1(LCAT):c.321C>A (p.Tyr107Ter) rs121908055
NM_000229.1(LCAT):c.475C>T (p.Arg159Trp) rs28940887
NM_000229.1(LCAT):c.492_493insGGC (p.Arg164_Ala165insGly) rs794726662
NM_000229.1(LCAT):c.508T>C (p.Trp170Arg) rs267607211
NM_000229.1(LCAT):c.698T>C (p.Leu233Pro) rs28942087
NM_000229.1(LCAT):c.756C>A (p.Asn252Lys) rs121908049
NM_000229.1(LCAT):c.827T>A (p.Met276Lys) rs121908054
NM_000229.1(LCAT):c.951G>A (p.Met317Ile) rs121908048
NM_000229.1(LCAT):c.997G>A (p.Val333Met) rs776035233
NM_000229.1(LCAT):c.[349G>A;544C>T]
NM_000229.2(LCAT):c.1197dup (p.Gln400Thrfs) rs794726663

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.