ClinVar Miner

List of variants studied 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: 117
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.*16G>A rs2230578 0.73170
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_004560.4(ROR2):c.2088C>T (p.Tyr696=) rs10992063 0.43825
NM_004560.4(ROR2):c.98-15G>C rs7863557 0.22863
NM_004560.4(ROR2):c.498T>C (p.Asp166=) rs16907720 0.08673
NM_004560.4(ROR2):c.*712C>T rs1135150 0.06276
NM_004560.4(ROR2):c.*1016T>G rs1135169 0.05960
NM_004560.4(ROR2):c.2154C>T (p.Pro718=) rs2230577 0.05836
NM_004560.4(ROR2):c.276C>T (p.Asn92=) rs56227711 0.03061
NM_004560.4(ROR2):c.1710G>A (p.Pro570=) rs41277837 0.02804
NM_004560.4(ROR2):c.1045C>G (p.His349Asp) rs55983376 0.01689
NM_004560.4(ROR2):c.75G>A (p.Leu25=) rs148237260 0.01389
NM_004560.4(ROR2):c.*229C>T rs75004227 0.01182
NM_004560.4(ROR2):c.2727G>A (p.Val909=) rs56091954 0.01179
NM_004560.4(ROR2):c.1642C>T (p.Pro548Ser) rs35764413 0.01175
NM_004560.4(ROR2):c.-91G>A rs141262722 0.00854
NM_004560.4(ROR2):c.471G>A (p.Thr157=) rs78781083 0.00812
NM_004560.4(ROR2):c.*245A>G rs77664658 0.00732
NM_004560.4(ROR2):c.*736A>G rs73654047 0.00701
NM_004560.4(ROR2):c.*886G>T rs114078962 0.00602
NM_004560.4(ROR2):c.717C>T (p.Cys239=) rs56302651 0.00553
NM_004560.4(ROR2):c.-60G>T rs184095609 0.00434
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu) rs34491822 0.00357
NM_004560.4(ROR2):c.1686C>T (p.His562=) rs56048121 0.00351
NM_004560.4(ROR2):c.937+10C>T rs201083970 0.00310
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891 0.00250
NM_004560.4(ROR2):c.372C>T (p.Asp124=) rs145568368 0.00241
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) rs141235720 0.00178
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg) rs34431454 0.00174
NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln) rs35852786 0.00156
NM_004560.4(ROR2):c.*927C>T rs150568265 0.00138
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln) rs142215888 0.00108
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu) rs56099091 0.00098
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val) rs150610444 0.00092
NM_004560.4(ROR2):c.*553G>A rs769673512 0.00068
NM_004560.4(ROR2):c.1716G>A (p.Ser572=) rs139654946 0.00056
NM_004560.4(ROR2):c.*369G>C rs555728388 0.00048
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp) rs148340413 0.00044
NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly) rs149826387 0.00037
NM_004560.4(ROR2):c.*135G>T rs774621355 0.00029
NM_004560.4(ROR2):c.1491G>A (p.Pro497=) rs146347005 0.00029
NM_004560.4(ROR2):c.-121A>C rs555789981 0.00026
NM_004560.4(ROR2):c.751C>T (p.Leu251=) rs368471121 0.00026
NM_004560.4(ROR2):c.*520C>T rs367760102 0.00025
NM_004560.4(ROR2):c.1959G>A (p.Leu653=) rs144549032 0.00024
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala) rs34574788 0.00019
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn) rs371221714 0.00016
NM_004560.4(ROR2):c.1956G>A (p.Ser652=) rs374939956 0.00015
NM_004560.4(ROR2):c.-102G>T rs932588990 0.00014
NM_004560.4(ROR2):c.-36A>G rs756061621 0.00014
NM_004560.4(ROR2):c.1317G>A (p.Pro439=) rs150661792 0.00014
NM_004560.4(ROR2):c.*558C>T rs571058325 0.00013
NM_004560.4(ROR2):c.1307C>T (p.Ala436Val) rs149842671 0.00011
NM_004560.4(ROR2):c.2466C>T (p.Asn822=) rs146432734 0.00011
NM_004560.4(ROR2):c.*38G>A rs367597436 0.00010
NM_004560.4(ROR2):c.146G>T (p.Gly49Val) rs201991252 0.00010
NM_004560.4(ROR2):c.2190C>T (p.Asn730=) rs372509332 0.00010
NM_004560.4(ROR2):c.1596A>G (p.Gln532=) rs528393492 0.00009
NM_004560.4(ROR2):c.744G>A (p.Pro248=) rs757948078 0.00009
NM_004560.4(ROR2):c.1416G>A (p.Ala472=) rs201064212 0.00008
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln) rs767474960 0.00007
NM_004560.4(ROR2):c.155G>A (p.Gly52Asp) rs201425107 0.00007
NM_004560.4(ROR2):c.2034C>T (p.Tyr678=) rs199681534 0.00007
NM_004560.4(ROR2):c.935G>A (p.Arg312His) rs188376581 0.00007
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr) rs142386294 0.00006
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys) rs56231927 0.00006
NM_004560.4(ROR2):c.678C>T (p.Phe226=) rs202159869 0.00006
NM_004560.4(ROR2):c.760G>A (p.Asp254Asn) rs374492597 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.*521G>A rs147339603 0.00005
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) rs376970201 0.00005
NM_004560.4(ROR2):c.2382G>A (p.Pro794=) rs532042443 0.00005
NM_004560.4(ROR2):c.702C>T (p.Phe234=) rs559697443 0.00005
NM_004560.4(ROR2):c.*487C>G rs970063320 0.00004
NM_004560.4(ROR2):c.-90A>G rs1587871077 0.00004
NM_004560.4(ROR2):c.153C>T (p.Asp51=) rs572950289 0.00004
NM_004560.4(ROR2):c.2277G>A (p.Ala759=) rs369491865 0.00004
NM_004560.4(ROR2):c.2649G>A (p.Met883Ile) rs373037095 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.*106C>T rs531108921 0.00001
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.1184-10T>C rs184670366 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.179A>C (p.Tyr60Ser) rs768160554 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.1720G>T (p.Val574Leu) rs140579674
NM_004560.4(ROR2):c.1870T>A (p.Tyr624Asn) rs1836942190
NM_004560.4(ROR2):c.1995G>C (p.Met665Ile) rs763115397
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.2805C>G (p.Asp935Glu) rs41277835
NM_004560.4(ROR2):c.722C>A (p.Ala241Glu) rs771096772
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.