ClinVar Miner

List of variants reported as uncertain significance for brachydactyly type B1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.*553G>A rs769673512 0.00068
NM_004560.4(ROR2):c.*369G>C rs555728388 0.00048
NM_004560.4(ROR2):c.*135G>T rs774621355 0.00026
NM_004560.4(ROR2):c.-102G>T rs932588990 0.00022
NM_004560.4(ROR2):c.-36A>G rs756061621 0.00014
NM_004560.4(ROR2):c.*38G>A rs367597436 0.00010
NM_004560.4(ROR2):c.678C>T (p.Phe226=) rs202159869 0.00006
NM_004560.4(ROR2):c.*433C>T rs919431237 0.00005
NM_004560.4(ROR2):c.*46C>T rs759105926 0.00005
NM_004560.4(ROR2):c.*487C>G rs970063320 0.00004
NM_004560.4(ROR2):c.*558C>T rs571058325 0.00004
NM_004560.4(ROR2):c.702C>T (p.Phe234=) rs559697443 0.00004
NM_004560.4(ROR2):c.864G>A (p.Ala288=) rs142926399 0.00004
NM_004560.4(ROR2):c.1552C>T (p.Arg518Trp) rs148896640 0.00003
NM_004560.4(ROR2):c.-154G>C rs1057515684 0.00001
NM_004560.4(ROR2):c.-66G>T rs1463989966 0.00001
NM_004560.4(ROR2):c.-90A>G rs1587871077 0.00001
NM_004560.4(ROR2):c.1279A>G (p.Met427Val) rs148390451 0.00001
NM_004560.4(ROR2):c.1300G>A (p.Ala434Thr) rs144447132 0.00001
NM_004560.4(ROR2):c.1566G>T (p.Arg522=) rs755724416 0.00001
NM_004560.4(ROR2):c.1820C>T (p.Ser607Phe) rs769849104 0.00001
NM_004560.4(ROR2):c.2458C>G (p.Pro820Ala) rs1253369894 0.00001
NM_004560.4(ROR2):c.*107G>C rs189697737
NM_004560.4(ROR2):c.*125C>A rs1836869944
NM_004560.4(ROR2):c.*180C>A rs542396423
NM_004560.4(ROR2):c.*398G>C rs941756148
NM_004560.4(ROR2):c.*571G>C rs1836854224
NM_004560.4(ROR2):c.*682C>G rs1057515678
NM_004560.4(ROR2):c.-118C>T rs1832134851
NM_004560.4(ROR2):c.-135G>C rs1057515683
NM_004560.4(ROR2):c.1103C>G (p.Pro368Arg) rs1716064320
NM_004560.4(ROR2):c.1234A>G (p.Ile412Val) rs1057515681
NM_004560.4(ROR2):c.1347C>G (p.Ser449Arg) rs1837043278
NM_004560.4(ROR2):c.1644C>A (p.Pro548=) rs1836960066
NM_004560.4(ROR2):c.179A>C (p.Tyr60Ser) rs768160554
NM_004560.4(ROR2):c.1870T>A (p.Tyr624Asn) rs1836942190
NM_004560.4(ROR2):c.2208G>T (p.Arg736=) rs1587653081
NM_004560.4(ROR2):c.2242G>T (p.Ala748Ser) rs1836916256
NM_004560.4(ROR2):c.2314T>A (p.Ser772Thr) rs1057515680
NM_004560.4(ROR2):c.2782G>A (p.Asp928Asn) rs199855010
NM_004560.4(ROR2):c.731G>A (p.Arg244Gln) rs55737262
NM_004560.4(ROR2):c.886G>A (p.Asp296Asn) rs867038828
NM_004560.4(ROR2):c.938-15G>A rs1837231210
NM_004560.4(ROR2):c.989C>T (p.Thr330Ile) rs1837228232

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.