ClinVar Miner

List of variants in gene EBP reported as pathogenic for X-linked chondrodysplasia punctata

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_006579.3(EBP):c.141G>T (p.Trp47Cys) rs587783599
NM_006579.3(EBP):c.182G>A (p.Trp61Ter) rs587783600
NM_006579.3(EBP):c.187C>T (p.Arg63Ter) rs104894799
NM_006579.3(EBP):c.203G>A (p.Trp68Ter)
NM_006579.3(EBP):c.225dup (p.His76fs) rs797045543
NM_006579.3(EBP):c.238G>A (p.Glu80Lys) rs104894800
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter) rs145509273
NM_006579.3(EBP):c.292_296del (p.Ser98fs) rs587783604
NM_006579.3(EBP):c.301+2T>A rs587783606
NM_006579.3(EBP):c.304A>T (p.Lys102Ter) rs587783608
NM_006579.3(EBP):c.310T>C (p.Tyr104His) rs587783609
NM_006579.3(EBP):c.328C>T (p.Arg110Ter) rs587783613
NM_006579.3(EBP):c.329G>A (p.Arg110Gln) rs1602090481
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter) rs797045544
NM_006579.3(EBP):c.338+1G>T rs1569479885
NM_006579.3(EBP):c.386G>A (p.Trp129Ter) rs104894792
NM_006579.3(EBP):c.390del (p.Pro131fs) rs1569479901
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs) rs797045546
NM_006579.3(EBP):c.440G>A (p.Arg147His) rs28935174
NM_006579.3(EBP):c.464_465del (p.Ser155fs) rs587783615
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter) rs587783616
NM_006579.3(EBP):c.484dup (p.Asp162fs) rs797045547
NM_006579.3(EBP):c.506_507del (p.Glu169fs) rs1602091152
NM_006579.3(EBP):c.523C>T (p.Gln175Ter) rs104894793
NM_006579.3(EBP):c.586_587insA (p.Trp196Ter) rs1569480016
NM_006579.3(EBP):c.587G>A (p.Trp196Ter) rs104894794
NM_006579.3(EBP):c.87G>A (p.Trp29Ter) rs104894798

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.