ClinVar Miner

List of variants reported as benign for brachydactyly type B1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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.494+25G>A rs12683181 0.68697
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_004560.4(ROR2):c.2088C>T (p.Tyr696=) rs10992063 0.44353
NM_004560.4(ROR2):c.98-15G>C rs7863557 0.22863
NM_004560.4(ROR2):c.498T>C (p.Asp166=) rs16907720 0.09084
NM_004560.4(ROR2):c.*1016T>G rs1135169 0.05960
NM_004560.4(ROR2):c.*712C>T rs1135150 0.05951
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 0.01251
NM_004560.4(ROR2):c.2727G>A (p.Val909=) rs56091954 0.01249
NM_004560.4(ROR2):c.1642C>T (p.Pro548Ser) rs35764413 0.01175
NM_004560.4(ROR2):c.-91G>A rs141262722 0.00898
NM_004560.4(ROR2):c.471G>A (p.Thr157=) rs78781083 0.00812
NM_004560.4(ROR2):c.*245A>G rs77664658 0.00775
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 0.00597
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.937+10C>T rs201083970 0.00310
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891 0.00261
NM_004560.4(ROR2):c.372C>T (p.Asp124=) rs145568368 0.00241
NM_004560.4(ROR2):c.1686C>T (p.His562=) rs56048121 0.00232
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg) rs34431454 0.00174
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) rs141235720 0.00173
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.937+16C>T rs112054737 0.00101
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.2684A>G (p.Asp895Gly) rs149826387 0.00038
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp) rs148340413 0.00035
NM_004560.4(ROR2):c.1491G>A (p.Pro497=) rs146347005 0.00029
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.1317G>A (p.Pro439=) rs150661792 0.00014
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn) rs371221714 0.00013
NM_004560.4(ROR2):c.1307C>T (p.Ala436Val) rs149842671 0.00011
NM_004560.4(ROR2):c.2190C>T (p.Asn730=) rs372509332 0.00011
NM_004560.4(ROR2):c.2466C>T (p.Asn822=) rs146432734 0.00011
NM_004560.4(ROR2):c.146G>T (p.Gly49Val) rs201991252 0.00010
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln) rs767474960 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.2034C>T (p.Tyr678=) rs199681534 0.00006
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys) rs56231927 0.00006
NM_004560.4(ROR2):c.760G>A (p.Asp254Asn) rs374492597 0.00006
NM_004560.4(ROR2):c.*520C>T rs367760102 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.1596A>G (p.Gln532=) rs528393492 0.00004
NM_004560.4(ROR2):c.2277G>A (p.Ala759=) rs369491865 0.00004
NM_004560.4(ROR2):c.2382G>A (p.Pro794=) rs532042443 0.00001
NM_004560.4(ROR2):c.*106C>T rs531108921
NM_004560.4(ROR2):c.1720G>T (p.Val574Leu) rs140579674
NM_004560.4(ROR2):c.1995G>C (p.Met665Ile) rs763115397
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835

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.