ClinVar Miner

List of variants reported as uncertain significance for craniolenticulosutural dysplasia by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006364.4(SEC23A):c.2104A>G (p.Met702Val) rs138568622 0.00034
NM_006364.4(SEC23A):c.2038A>G (p.Asn680Asp) rs200050093 0.00010
NM_006364.4(SEC23A):c.1460A>G (p.His487Arg) rs770112771 0.00001
NM_006364.4(SEC23A):c.1495A>G (p.Ile499Val) rs767175510 0.00001
NM_006364.4(SEC23A):c.1864A>G (p.Ile622Val) rs767767591 0.00001
NM_006364.4(SEC23A):c.2208+6T>A rs1421920689 0.00001
NM_006364.4(SEC23A):c.995A>G (p.Glu332Gly) rs749846887 0.00001
NM_006364.4(SEC23A):c.115G>A (p.Ala39Thr) rs2139298560
NM_006364.4(SEC23A):c.1274C>G (p.Ser425Ter)
NM_006364.4(SEC23A):c.1294T>C (p.Cys432Arg) rs1886605183
NM_006364.4(SEC23A):c.1349_1350inv (p.Gly450Val)
NM_006364.4(SEC23A):c.1427G>A (p.Arg476His)
NM_006364.4(SEC23A):c.147_155del (p.Asp50_Pro52del) rs1887873306
NM_006364.4(SEC23A):c.1483C>T (p.Arg495Ter)
NM_006364.4(SEC23A):c.1504A>C (p.Asn502His)
NM_006364.4(SEC23A):c.1694del (p.Pro565fs)
NM_006364.4(SEC23A):c.1718C>A (p.Thr573Asn) rs2139199749
NM_006364.4(SEC23A):c.175G>A (p.Val59Ile) rs1887872116
NM_006364.4(SEC23A):c.1784A>G (p.Asn595Ser)
NM_006364.4(SEC23A):c.178_179del (p.Leu60fs) rs2139298318
NM_006364.4(SEC23A):c.2261del (p.Asp754fs)
NM_006364.4(SEC23A):c.227T>C (p.Val76Ala)
NM_006364.4(SEC23A):c.281T>C (p.Phe94Ser)
NM_006364.4(SEC23A):c.284C>T (p.Pro95Leu)
NM_006364.4(SEC23A):c.371G>T (p.Gly124Val)
NM_006364.4(SEC23A):c.478C>T (p.Pro160Ser) rs1887666757
NM_006364.4(SEC23A):c.481A>G (p.Thr161Ala)
NM_006364.4(SEC23A):c.487T>G (p.Leu163Val) rs777434049
NM_006364.4(SEC23A):c.489G>C (p.Leu163Phe)
NM_006364.4(SEC23A):c.516G>C (p.Met172Ile)
NM_006364.4(SEC23A):c.539G>A (p.Cys180Tyr)
NM_006364.4(SEC23A):c.545G>A (p.Gly182Asp) rs765405316
NM_006364.4(SEC23A):c.629C>T (p.Pro210Leu)
NM_006364.4(SEC23A):c.631C>A (p.Leu211Ile) rs8018720
NM_006364.4(SEC23A):c.661C>G (p.Gln221Glu)
NM_006364.4(SEC23A):c.674C>T (p.Pro225Leu)
NM_006364.4(SEC23A):c.745C>G (p.Arg249Gly)
NM_006364.4(SEC23A):c.808A>G (p.Ile270Val)
NM_006364.4(SEC23A):c.82C>T (p.Arg28Ter)
NM_006364.4(SEC23A):c.877C>G (p.Pro293Ala)

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.