ClinVar Miner

List of variants reported as likely pathogenic for capillary malformation by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_000020.2(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn)
NM_000020.3(ACVRL1):c.773-3C>G rs1592223964
NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg)
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe)

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.