ClinVar Miner

List of variants in gene ROR2 studied for autosomal recessive Robinow syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 225
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.175+17A>G rs372392835 0.00243
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.*553G>A rs769673512 0.00068
NM_004560.4(ROR2):c.1716G>A (p.Ser572=) rs139654946 0.00056
NM_004560.4(ROR2):c.494+17C>T rs201549038 0.00053
NM_004560.4(ROR2):c.*369G>C rs555728388 0.00048
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.721G>A (p.Ala241Thr) rs141577636 0.00032
NM_004560.4(ROR2):c.1491G>A (p.Pro497=) rs146347005 0.00029
NM_004560.4(ROR2):c.*135G>T rs774621355 0.00026
NM_004560.4(ROR2):c.-121A>C rs555789981 0.00026
NM_004560.4(ROR2):c.751C>T (p.Leu251=) rs368471121 0.00025
NM_004560.4(ROR2):c.1572G>A (p.Glu524=) rs138666116 0.00024
NM_004560.4(ROR2):c.1959G>A (p.Leu653=) rs144549032 0.00024
NM_004560.4(ROR2):c.-102G>T rs932588990 0.00022
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala) rs34574788 0.00019
NM_004560.4(ROR2):c.871A>G (p.Met291Val) rs150364724 0.00019
NM_004560.4(ROR2):c.2274G>A (p.Ser758=) rs139915017 0.00016
NM_004560.4(ROR2):c.525G>A (p.Gln175=) rs147616624 0.00016
NM_004560.4(ROR2):c.1956G>A (p.Ser652=) rs374939956 0.00015
NM_004560.4(ROR2):c.2613A>C (p.Thr871=) rs751280391 0.00015
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.1524G>A (p.Thr508=) rs114395148 0.00013
NM_004560.4(ROR2):c.1601C>A (p.Pro534His) rs762554351 0.00013
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.1885G>A (p.Val629Met) rs148844963 0.00011
NM_004560.4(ROR2):c.1940A>G (p.Lys647Arg) rs369059394 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.2586C>T (p.His862=) rs56158629 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.1624G>A (p.Val542Met) rs140213020 0.00010
NM_004560.4(ROR2):c.1746G>A (p.Thr582=) rs201241207 0.00010
NM_004560.4(ROR2):c.97+7T>C rs377341845 0.00010
NM_004560.4(ROR2):c.155G>A (p.Gly52Asp) rs201425107 0.00009
NM_004560.4(ROR2):c.2782G>C (p.Asp928His) rs199855010 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.1490C>T (p.Pro497Leu) rs772631240 0.00008
NM_004560.4(ROR2):c.1240A>G (p.Ile414Val) rs145023692 0.00007
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln) rs767474960 0.00007
NM_004560.4(ROR2):c.2604C>T (p.Ser868=) rs369150056 0.00007
NM_004560.4(ROR2):c.485A>G (p.His162Arg) rs569718323 0.00007
NM_004560.4(ROR2):c.935G>A (p.Arg312His) rs188376581 0.00007
NM_004560.4(ROR2):c.1105G>A (p.Gly369Arg) rs151187583 0.00006
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr) rs142386294 0.00006
NM_004560.4(ROR2):c.1863G>A (p.Val621=) rs778321761 0.00006
NM_004560.4(ROR2):c.1997A>G (p.Tyr666Cys) rs1463489541 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.37C>G (p.Leu13Val) rs1053014086 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.*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.2521C>G (p.Gln841Glu) rs771461100 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.153C>T (p.Asp51=) rs572950289 0.00004
NM_004560.4(ROR2):c.1553G>A (p.Arg518Gln) rs373544528 0.00004
NM_004560.4(ROR2):c.1596A>G (p.Gln532=) rs528393492 0.00004
NM_004560.4(ROR2):c.1630A>G (p.Thr544Ala) rs374811924 0.00004
NM_004560.4(ROR2):c.1732G>A (p.Asp578Asn) rs139802697 0.00004
NM_004560.4(ROR2):c.175+3G>T rs557936422 0.00004
NM_004560.4(ROR2):c.1913G>A (p.Arg638Gln) rs765278167 0.00004
NM_004560.4(ROR2):c.1998C>T (p.Tyr666=) rs773389306 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.2724C>T (p.Thr908=) rs374824850 0.00004
NM_004560.4(ROR2):c.281G>A (p.Arg94Gln) rs367829411 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.888C>T (p.Asp296=) rs755825636 0.00004
NM_004560.4(ROR2):c.1552C>T (p.Arg518Trp) rs148896640 0.00003
NM_004560.4(ROR2):c.1799C>T (p.Ala600Val) rs143738026 0.00003
NM_004560.4(ROR2):c.1873G>A (p.Asp625Asn) rs754476697 0.00003
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg) rs142386992 0.00003
NM_004560.4(ROR2):c.2451C>T (p.Leu817=) rs200396791 0.00003
NM_004560.4(ROR2):c.1154G>A (p.Arg385His) rs755135206 0.00002
NM_004560.4(ROR2):c.1184-10T>C rs184670366 0.00002
NM_004560.4(ROR2):c.1399G>C (p.Glu467Gln) rs780576494 0.00002
NM_004560.4(ROR2):c.1771G>A (p.Asp591Asn) rs768175141 0.00002
NM_004560.4(ROR2):c.2206C>T (p.Arg736Trp) rs1329621652 0.00002
NM_004560.4(ROR2):c.2354G>A (p.Arg785His) rs368059807 0.00002
NM_004560.4(ROR2):c.2478G>A (p.Pro826=) rs145213893 0.00002
NM_004560.4(ROR2):c.954C>T (p.Asn318=) rs553026289 0.00002
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.1322G>A (p.Arg441Gln) rs142993413 0.00001
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter) rs267607016 0.00001
NM_004560.4(ROR2):c.1502C>A (p.Thr501Asn) rs142047260 0.00001
NM_004560.4(ROR2):c.1566G>T (p.Arg522=) rs755724416 0.00001
NM_004560.4(ROR2):c.1605C>T (p.Asn535=) rs769352677 0.00001
NM_004560.4(ROR2):c.1639C>A (p.Gln547Lys) rs1489863862 0.00001
NM_004560.4(ROR2):c.1687G>A (p.Glu563Lys) rs186571882 0.00001
NM_004560.4(ROR2):c.175+1G>A rs753069829 0.00001
NM_004560.4(ROR2):c.1820C>T (p.Ser607Phe) rs769849104 0.00001
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552 0.00001
NM_004560.4(ROR2):c.2155G>A (p.Ala719Thr) rs375448033 0.00001
NM_004560.4(ROR2):c.2239C>T (p.Arg747Ter) rs374646337 0.00001
NM_004560.4(ROR2):c.2382G>A (p.Pro794=) rs532042443 0.00001
NM_004560.4(ROR2):c.2458C>G (p.Pro820Ala) rs1253369894 0.00001
NM_004560.4(ROR2):c.302C>T (p.Pro101Leu) rs370882834 0.00001
NM_004560.4(ROR2):c.334C>T (p.Arg112Trp) rs868585233 0.00001
NM_004560.4(ROR2):c.457C>T (p.Arg153Trp) rs745695427 0.00001
NM_004560.4(ROR2):c.533G>A (p.Arg178Gln) rs746562213 0.00001
NM_004560.4(ROR2):c.768C>T (p.Cys256=) rs772113008 0.00001
NM_004560.4(ROR2):c.769G>A (p.Glu257Lys) rs543118807 0.00001
NM_004560.4(ROR2):c.904C>T (p.Arg302Cys) rs767372181 0.00001
NM_004560.4(ROR2):c.950A>G (p.Tyr317Cys) rs756479236 0.00001
GRCh37/hg19 9q22.31(chr9:94499721-94518293)x1
NM_004560.4(ROR2):c.*106C>T rs531108921
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.1086C>G (p.His362Gln)
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp) rs2118683688
NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile) rs2118683614
NM_004560.4(ROR2):c.1103C>G (p.Pro368Arg) rs1716064320
NM_004560.4(ROR2):c.1104C>T (p.Pro368=) rs200675570
NM_004560.4(ROR2):c.1133T>C (p.Phe378Ser)
NM_004560.4(ROR2):c.1184-1G>T rs2118645585
NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter) rs1308509155
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.1353_1360del (p.Met452fs) rs1365019676
NM_004560.4(ROR2):c.1412C>T (p.Ser471Phe) rs1564230209
NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter) rs121909083
NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe) rs2118626297
NM_004560.4(ROR2):c.1565_1569delinsTGTA (p.Arg522fs) rs1587655016
NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter) rs1448877786
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.179A>C (p.Tyr60Ser) rs768160554
NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser) rs1489361512
NM_004560.4(ROR2):c.1856G>A (p.Arg619His)
NM_004560.4(ROR2):c.1870T>A (p.Tyr624Asn) rs1836942190
NM_004560.4(ROR2):c.1937_1943del (p.Tyr646fs) rs863223291
NM_004560.4(ROR2):c.1995G>C (p.Met665Ile) rs763115397
NM_004560.4(ROR2):c.2014G>A (p.Asp672Asn) rs55651110
NM_004560.4(ROR2):c.2014G>T (p.Asp672Tyr) rs55651110
NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr) rs2118616453
NM_004560.4(ROR2):c.2160G>A (p.Trp720Ter) rs121909085
NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln) rs980417569
NM_004560.4(ROR2):c.2208G>T (p.Arg736=) rs1587653081
NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu) rs767802430
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.2358C>G (p.Tyr786Ter)
NM_004560.4(ROR2):c.2442G>A (p.Pro814=) rs185808139
NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr) rs1434209233
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.2T>G (p.Met1Arg) rs2118126851
NM_004560.4(ROR2):c.323G>A (p.Arg108Gln) rs1587690611
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter) rs121909087
NM_004560.4(ROR2):c.362G>A (p.Arg121Gln) rs1377209414
NM_004560.4(ROR2):c.494+4_494+7del rs2118839436
NM_004560.4(ROR2):c.550C>T (p.Arg184Cys) rs121909084
NM_004560.4(ROR2):c.613C>T (p.Arg205Ter) rs121909086
NM_004560.4(ROR2):c.622+762_1184-1036del
NM_004560.4(ROR2):c.623-11G>A rs1350375399
NM_004560.4(ROR2):c.640G>C (p.Gly214Arg)
NM_004560.4(ROR2):c.675del (p.Gln225fs) rs2118702517
NM_004560.4(ROR2):c.717C>A (p.Cys239Ter) rs56302651
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.79_80del (p.Ser29fs) rs2118125646
NM_004560.4(ROR2):c.854A>G (p.Lys285Arg)
NM_004560.4(ROR2):c.886G>A (p.Asp296Asn) rs867038828
NM_004560.4(ROR2):c.899G>T (p.Cys300Phe) rs2118699409
NM_004560.4(ROR2):c.938-15G>A rs1837231210
NM_004560.4(ROR2):c.989C>T (p.Thr330Ile) rs1837228232
NM_004560.4(ROR2):c.990del (p.Thr331fs) rs1837228121

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