ClinVar Miner

List of variants studied for Lymphatic malformation 9

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378328.1(CELSR1):c.1592C>G (p.Ser531Trp)
NM_001378328.1(CELSR1):c.1849G>T (p.Ala617Ser)
NM_001378328.1(CELSR1):c.3169C>T (p.Arg1057Cys)
NM_001378328.1(CELSR1):c.3968G>A (p.Arg1323Gln)
NM_001378328.1(CELSR1):c.4270G>A (p.Gly1424Ser)
NM_001378328.1(CELSR1):c.4366C>T (p.Arg1456Trp)
NM_001378328.1(CELSR1):c.4552G>C (p.Val1518Leu)
NM_001378328.1(CELSR1):c.4903G>A (p.Gly1635Arg)
NM_001378328.1(CELSR1):c.4928G>A (p.Arg1643Gln)
NM_001378328.1(CELSR1):c.5121dup (p.Ile1708fs) rs2147324428
NM_001378328.1(CELSR1):c.5226+2T>A rs1569141899
NM_001378328.1(CELSR1):c.5501G>A (p.Arg1834His)
NM_001378328.1(CELSR1):c.5512C>T (p.Arg1838Ter)
NM_001378328.1(CELSR1):c.5871G>A (p.Trp1957Ter) rs2147265140
NM_001378328.1(CELSR1):c.6010G>A (p.Asp2004Asn)
NM_001378328.1(CELSR1):c.6160G>T (p.Gly2054Cys)
NM_001378328.1(CELSR1):c.6371C>T (p.Thr2124Met)
NM_001378328.1(CELSR1):c.6463A>G (p.Thr2155Ala)
NM_001378328.1(CELSR1):c.6514G>A (p.Gly2172Ser)
NM_001378328.1(CELSR1):c.6544G>A (p.Asp2182Asn)
NM_001378328.1(CELSR1):c.6739+1G>A rs1569124017
NM_001378328.1(CELSR1):c.692G>T (p.Arg231Leu)
NM_001378328.1(CELSR1):c.7256C>T (p.Ala2419Val)
NM_001378328.1(CELSR1):c.7387G>A (p.Gly2463Arg)
NM_001378328.1(CELSR1):c.7492T>C (p.Ser2498Pro)
NM_001378328.1(CELSR1):c.7554C>A (p.Phe2518Leu) rs116079347
NM_001378328.1(CELSR1):c.7640C>T (p.Ala2547Val) rs2147187765
NM_001378328.1(CELSR1):c.7715G>A (p.Arg2572Gln)
NM_001378328.1(CELSR1):c.7792G>A (p.Gly2598Arg)
NM_001378328.1(CELSR1):c.7797C>A (p.Asn2599Lys)
NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter) rs1569227576
NM_001378328.1(CELSR1):c.8863G>A (p.Ala2955Thr)

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.