ClinVar Miner

List of variants reported as likely pathogenic for Type IV short rib polydactyly syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_001199397.2(NEK1):c.418G>A (p.Gly140Arg) rs1301705612
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230
NM_020800.3(IFT80):c.487_490del (p.Leu163fs) rs1553764834
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) rs759086770
NM_025132.4(WDR19):c.3484-2A>C rs1553918403
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn) rs1451698951
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710

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.