ClinVar Miner

List of variants in gene RAD21 studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (870):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 260
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HGVS dbSNP gnomAD frequency
NM_006265.3(RAD21):c.1440T>C (p.Ala480=) rs1050838 0.13137
NM_006265.3(RAD21):c.688+8G>A rs2921787 0.11506
NM_006265.3(RAD21):c.1242T>G (p.Asp414Glu) rs75160167 0.00623
NM_006265.3(RAD21):c.938-11T>C rs200333487 0.00417
NM_006265.3(RAD21):c.786C>T (p.Asp262=) rs34653007 0.00300
NM_006265.3(RAD21):c.1515C>G (p.Pro505=) rs9297560 0.00298
NM_006265.3(RAD21):c.-32-1G>A rs16889042 0.00127
NM_006265.3(RAD21):c.1471-11A>G rs112473657 0.00068
NM_006265.3(RAD21):c.468A>G (p.Gln156=) rs530697556 0.00045
NM_006265.3(RAD21):c.1617A>G (p.Glu539=) rs138040512 0.00042
NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg) rs144953114 0.00034
NM_006265.3(RAD21):c.1705-12G>A rs189362023 0.00034
NM_006265.3(RAD21):c.735C>T (p.Pro245=) rs199767556 0.00029
NM_006265.3(RAD21):c.1185G>A (p.Pro395=) rs138247094 0.00026
NM_006265.3(RAD21):c.1503T>G (p.Pro501=) rs150935041 0.00017
NM_006265.3(RAD21):c.159A>G (p.Leu53=) rs186566723 0.00011
NM_006265.3(RAD21):c.645T>C (p.Tyr215=) rs143910582 0.00010
NM_006265.3(RAD21):c.1479G>C (p.Gln493His) rs759030507 0.00009
NM_006265.3(RAD21):c.1711C>T (p.Leu571Phe) rs139935751 0.00009
NM_006265.3(RAD21):c.450G>A (p.Gly150=) rs188711205 0.00009
NM_006265.3(RAD21):c.1471-16T>C rs202211817 0.00008
NM_006265.3(RAD21):c.582G>A (p.Glu194=) rs201468757 0.00008
NM_006265.3(RAD21):c.540C>T (p.Asp180=) rs761693720 0.00006
NM_006265.3(RAD21):c.1221A>G (p.Gly407=) rs147090806 0.00004
NM_006265.3(RAD21):c.1471-3A>G rs202098276 0.00004
NM_006265.3(RAD21):c.393G>A (p.Gln131=) rs759582860 0.00004
NM_006265.3(RAD21):c.640C>G (p.Gln214Glu) rs767342502 0.00004
NM_006265.3(RAD21):c.807T>C (p.Asn269=) rs372221161 0.00004
NM_006265.3(RAD21):c.892C>G (p.Pro298Ala) rs148308569 0.00004
NM_006265.3(RAD21):c.999T>C (p.Asp333=) rs768725843 0.00004
NM_006265.3(RAD21):c.1237T>C (p.Leu413=) rs201779352 0.00003
NM_006265.3(RAD21):c.1400C>T (p.Ala467Val) rs1445148501 0.00003
NM_006265.3(RAD21):c.1757G>A (p.Arg586Gln) rs780692465 0.00003
NM_006265.3(RAD21):c.1782C>T (p.Ala594=) rs61737172 0.00003
NM_006265.3(RAD21):c.363G>C (p.Leu121=) rs959964243 0.00003
NM_006265.3(RAD21):c.741C>G (p.Ala247=) rs141798668 0.00003
NM_006265.3(RAD21):c.849C>T (p.Pro283=) rs369661655 0.00003
NM_006265.3(RAD21):c.1364T>C (p.Val455Ala) rs373625369 0.00002
NM_006265.3(RAD21):c.145-4A>G rs752213732 0.00002
NM_006265.3(RAD21):c.1471-9T>C rs763912364 0.00002
NM_006265.3(RAD21):c.1576G>C (p.Glu526Gln) rs373026310 0.00002
NM_006265.3(RAD21):c.1629T>C (p.Asp543=) rs377080076 0.00002
NM_006265.3(RAD21):c.717C>T (p.Gly239=) rs1293278125 0.00002
NM_006265.3(RAD21):c.1065G>A (p.Pro355=) rs202233096 0.00001
NM_006265.3(RAD21):c.1068C>T (p.Pro356=) rs1348606480 0.00001
NM_006265.3(RAD21):c.1189G>A (p.Val397Ile) rs371948457 0.00001
NM_006265.3(RAD21):c.1251C>T (p.Leu417=) rs1184536083 0.00001
NM_006265.3(RAD21):c.1320C>T (p.Ile440=) rs776397992 0.00001
NM_006265.3(RAD21):c.1349G>A (p.Arg450His) rs1051321465 0.00001
NM_006265.3(RAD21):c.1446A>T (p.Gln482His) rs756283022 0.00001
NM_006265.3(RAD21):c.1470+9G>A rs1450007910 0.00001
NM_006265.3(RAD21):c.1724G>C (p.Gly575Ala) rs762827934 0.00001
NM_006265.3(RAD21):c.1848G>A (p.Pro616=) rs761965871 0.00001
NM_006265.3(RAD21):c.687A>C (p.Leu229Phe) rs774987531 0.00001
NM_006265.3(RAD21):c.745T>C (p.Ser249Pro) rs138762840 0.00001
NC_000008.10:g.(?_117859739)_(117861288_?)dup
NC_000008.10:g.(?_117859739)_(117866727_?)dup
NC_000008.11:g.(?_116857267)_(116863259_?)del
NM_006265.3(RAD21):c.1045dup (p.Thr349fs)
NM_006265.3(RAD21):c.1048A>G (p.Thr350Ala)
NM_006265.3(RAD21):c.1050T>A (p.Thr350=)
NM_006265.3(RAD21):c.1071C>T (p.Thr357=)
NM_006265.3(RAD21):c.1101A>T (p.Gly367=)
NM_006265.3(RAD21):c.1120T>C (p.Ser374Pro)
NM_006265.3(RAD21):c.1127C>G (p.Pro376Arg) rs387907212
NM_006265.3(RAD21):c.1130C>T (p.Ala377Val)
NM_006265.3(RAD21):c.1131T>C (p.Ala377=)
NM_006265.3(RAD21):c.1137T>G (p.Pro379=)
NM_006265.3(RAD21):c.1143G>C (p.Trp381Cys) rs2130462808
NM_006265.3(RAD21):c.1153C>G (p.Leu385Val)
NM_006265.3(RAD21):c.1161+1G>A rs1563689416
NM_006265.3(RAD21):c.1161+5T>C
NM_006265.3(RAD21):c.1162-20_1162-18del
NM_006265.3(RAD21):c.1183C>G (p.Pro395Ala)
NM_006265.3(RAD21):c.1186C>T (p.Leu396Phe)
NM_006265.3(RAD21):c.1211G>A (p.Arg404Lys)
NM_006265.3(RAD21):c.1214G>A (p.Arg405Lys)
NM_006265.3(RAD21):c.1217_1224del (p.Lys406fs) rs1812376090
NM_006265.3(RAD21):c.1228G>T (p.Ala410Ser)
NM_006265.3(RAD21):c.1235A>G (p.Asn412Ser)
NM_006265.3(RAD21):c.1273G>A (p.Val425Ile)
NM_006265.3(RAD21):c.1276C>T (p.Pro426Ser)
NM_006265.3(RAD21):c.1293A>G (p.Gln431=)
NM_006265.3(RAD21):c.1296GCA[1] (p.Gln433del) rs2130459649
NM_006265.3(RAD21):c.1298A>G (p.Gln433Arg)
NM_006265.3(RAD21):c.12A>C (p.Ala4=)
NM_006265.3(RAD21):c.1306C>T (p.Gln436Ter) rs1563688680
NM_006265.3(RAD21):c.1309C>T (p.Arg437Cys)
NM_006265.3(RAD21):c.1315G>A (p.Val439Ile)
NM_006265.3(RAD21):c.1317T>C (p.Val439=)
NM_006265.3(RAD21):c.1322-14A>G
NM_006265.3(RAD21):c.1322-5T>G
NM_006265.3(RAD21):c.1322-6T>C
NM_006265.3(RAD21):c.1329C>G (p.Pro443=) rs765533095
NM_006265.3(RAD21):c.1353C>T (p.Leu451=)
NM_006265.3(RAD21):c.1359_1360delinsTC (p.Glu453_Ser454delinsAspPro)
NM_006265.3(RAD21):c.1375A>C (p.Ser459Arg)
NM_006265.3(RAD21):c.1382_1384del (p.Thr461del)
NM_006265.3(RAD21):c.1390G>C (p.Asp464His)
NM_006265.3(RAD21):c.1402A>G (p.Met468Val)
NM_006265.3(RAD21):c.1417C>T (p.Pro473Ser)
NM_006265.3(RAD21):c.1420C>G (p.Gln474Glu)
NM_006265.3(RAD21):c.1425A>T (p.Gly475=)
NM_006265.3(RAD21):c.1432C>T (p.Arg478Ter) rs748575266
NM_006265.3(RAD21):c.144+12G>A
NM_006265.3(RAD21):c.144+1G>A rs1586275911
NM_006265.3(RAD21):c.144+5G>A
NM_006265.3(RAD21):c.1460C>T (p.Pro487Leu)
NM_006265.3(RAD21):c.1468C>T (p.Pro490Ser)
NM_006265.3(RAD21):c.1470+13A>G
NM_006265.3(RAD21):c.1470+20C>T
NM_006265.3(RAD21):c.1471-13G>A
NM_006265.3(RAD21):c.1489A>G (p.Met497Val)
NM_006265.3(RAD21):c.1500A>G (p.Pro500=)
NM_006265.3(RAD21):c.1513C>G (p.Pro505Ala)
NM_006265.3(RAD21):c.1517C>G (p.Pro506Arg)
NM_006265.3(RAD21):c.1528C>G (p.Pro510Ala)
NM_006265.3(RAD21):c.1532A>G (p.Asn511Ser) rs1202371552
NM_006265.3(RAD21):c.1538G>C (p.Cys513Ser)
NM_006265.3(RAD21):c.1543C>G (p.Leu515Val)
NM_006265.3(RAD21):c.1548delinsTC (p.Glu518fs) rs1812331711
NM_006265.3(RAD21):c.1549C>T (p.Pro517Ser)
NM_006265.3(RAD21):c.1550dup (p.Glu518fs) rs1563687901
NM_006265.3(RAD21):c.1560_1583dup (p.Glu528_Lys529insLeuLeuProGluLysGluLysGlu)
NM_006265.3(RAD21):c.1564C>G (p.Leu522Val)
NM_006265.3(RAD21):c.1578G>A (p.Glu526=)
NM_006265.3(RAD21):c.1579_1581del (p.Lys527del)
NM_006265.3(RAD21):c.1592A>G (p.Lys531Arg)
NM_006265.3(RAD21):c.1602A>T (p.Glu534Asp)
NM_006265.3(RAD21):c.1608_1613del (p.Asp536_Glu537del)
NM_006265.3(RAD21):c.1620+11_1620+14del
NM_006265.3(RAD21):c.1620G>A (p.Glu540=)
NM_006265.3(RAD21):c.1621-12A>T
NM_006265.3(RAD21):c.1621-13C>T
NM_006265.3(RAD21):c.1621-384_1704+199del
NM_006265.3(RAD21):c.1631C>T (p.Ala544Val)
NM_006265.3(RAD21):c.1635del (p.Gly547fs)
NM_006265.3(RAD21):c.1641C>T (p.Gly547=)
NM_006265.3(RAD21):c.165A>G (p.Thr55=)
NM_006265.3(RAD21):c.1694A>G (p.His565Arg)
NM_006265.3(RAD21):c.1705-15T>C
NM_006265.3(RAD21):c.1705-2A>G
NM_006265.3(RAD21):c.1706G>A (p.Arg569His)
NM_006265.3(RAD21):c.1717A>G (p.Lys573Glu)
NM_006265.3(RAD21):c.1719A>G (p.Lys573=)
NM_006265.3(RAD21):c.1727C>T (p.Ala576Val)
NM_006265.3(RAD21):c.1729G>A (p.Glu577Lys)
NM_006265.3(RAD21):c.1742T>C (p.Leu581Ser) rs2130450108
NM_006265.3(RAD21):c.1744C>A (p.Leu582Ile)
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg) rs387907213
NM_006265.3(RAD21):c.1764G>A (p.Thr588=) rs200021994
NM_006265.3(RAD21):c.1774_1776del (p.Gln592del) rs1563686762
NM_006265.3(RAD21):c.1801T>C (p.Leu601=)
NM_006265.3(RAD21):c.1806T>A (p.Val602=)
NM_006265.3(RAD21):c.1808T>C (p.Leu603Pro) rs863224910
NM_006265.3(RAD21):c.1811A>G (p.Lys604Arg)
NM_006265.3(RAD21):c.1815G>C (p.Lys605Asn)
NM_006265.3(RAD21):c.181_182dup (p.Gly62fs) rs1554612096
NM_006265.3(RAD21):c.1824T>G (p.Ala608=)
NM_006265.3(RAD21):c.1843G>T (p.Glu615Ter) rs1425483905
NM_006265.3(RAD21):c.1845A>G (p.Glu615=)
NM_006265.3(RAD21):c.1852A>G (p.Ser618Gly) rs1554610467
NM_006265.3(RAD21):c.1858A>T (p.Ile620Phe) rs764118613
NM_006265.3(RAD21):c.1863C>G (p.Ile621Met) rs763059424
NM_006265.3(RAD21):c.1863C>T (p.Ile621=)
NM_006265.3(RAD21):c.1888A>G (p.Ile630Val)
NM_006265.3(RAD21):c.1890T>G (p.Ile630Met)
NM_006265.3(RAD21):c.1895A>G (p.Ter632=)
NM_006265.3(RAD21):c.193C>T (p.Arg65Ter)
NM_006265.3(RAD21):c.208A>T (p.Lys70Ter) rs1554612093
NM_006265.3(RAD21):c.228A>T (p.Ala76=) rs2130479411
NM_006265.3(RAD21):c.233_234del (p.Asp77_Cys78insTer) rs2130479407
NM_006265.3(RAD21):c.273A>G (p.Pro91=) rs1812624997
NM_006265.3(RAD21):c.274+26GTT[5] rs112562183
NM_006265.3(RAD21):c.275-3_275-2dup
NM_006265.3(RAD21):c.351T>C (p.Phe117=)
NM_006265.3(RAD21):c.374+13T>C
NM_006265.3(RAD21):c.374+9C>A
NM_006265.3(RAD21):c.375-12C>T
NM_006265.3(RAD21):c.375-3A>C
NM_006265.3(RAD21):c.375-9C>T
NM_006265.3(RAD21):c.375-9_375-7del
NM_006265.3(RAD21):c.378C>T (p.Asp126=)
NM_006265.3(RAD21):c.381C>A (p.Ile127=)
NM_006265.3(RAD21):c.381C>T (p.Ile127=)
NM_006265.3(RAD21):c.3G>A (p.Met1Ile) rs1586276006
NM_006265.3(RAD21):c.42G>C (p.Leu14=)
NM_006265.3(RAD21):c.431C>T (p.Thr144Ile)
NM_006265.3(RAD21):c.464del (p.Leu155fs)
NM_006265.3(RAD21):c.466C>T (p.Gln156Ter) rs1812515682
NM_006265.3(RAD21):c.481+8A>C
NM_006265.3(RAD21):c.482-15_482-11del rs750504354
NM_006265.3(RAD21):c.482-19C>T
NM_006265.3(RAD21):c.482-20A>G
NM_006265.3(RAD21):c.482-3del rs1217367738
NM_006265.3(RAD21):c.482G>A (p.Gly161Asp)
NM_006265.3(RAD21):c.497A>G (p.Asp166Gly) rs1586268625
NM_006265.3(RAD21):c.513G>A (p.Met171Ile)
NM_006265.3(RAD21):c.548T>G (p.Leu183Ter)
NM_006265.3(RAD21):c.564T>G (p.Thr188=)
NM_006265.3(RAD21):c.56_62del (p.Leu19fs) rs797045907
NM_006265.3(RAD21):c.576A>G (p.Leu192=)
NM_006265.3(RAD21):c.579dup (p.Glu194fs) rs797045908
NM_006265.3(RAD21):c.583T>C (p.Ser195Pro)
NM_006265.3(RAD21):c.589C>T (p.Gln197Ter) rs1352385210
NM_006265.3(RAD21):c.592_593dup (p.Ser198fs) rs797045909
NM_006265.3(RAD21):c.593dup (p.Ser198fs) rs2130469261
NM_006265.3(RAD21):c.623A>G (p.His208Arg)
NM_006265.3(RAD21):c.63C>T (p.Ala21=)
NM_006265.3(RAD21):c.660del (p.Phe220fs)
NM_006265.3(RAD21):c.676G>A (p.Gly226Ser)
NM_006265.3(RAD21):c.683del (p.Ile228fs)
NM_006265.3(RAD21):c.686T>C (p.Leu229Ser)
NM_006265.3(RAD21):c.689-15C>A
NM_006265.3(RAD21):c.689-15C>T
NM_006265.3(RAD21):c.689-16dup rs773593714
NM_006265.3(RAD21):c.689-17del
NM_006265.3(RAD21):c.689-4del
NM_006265.3(RAD21):c.68G>A (p.Trp23Ter)
NM_006265.3(RAD21):c.699T>C (p.Leu233=)
NM_006265.3(RAD21):c.704del (p.Ser235fs) rs1812478613
NM_006265.3(RAD21):c.714T>C (p.Asp238=)
NM_006265.3(RAD21):c.741C>A (p.Ala247=)
NM_006265.3(RAD21):c.744C>T (p.Leu248=)
NM_006265.3(RAD21):c.767C>T (p.Pro256Leu)
NM_006265.3(RAD21):c.769G>C (p.Glu257Gln)
NM_006265.3(RAD21):c.789T>A (p.Asp263Glu)
NM_006265.3(RAD21):c.808G>A (p.Val270Ile)
NM_006265.3(RAD21):c.814+15T>C
NM_006265.3(RAD21):c.814+2T>C
NM_006265.3(RAD21):c.814+6C>G
NM_006265.3(RAD21):c.815-10_815-5del rs35902828
NM_006265.3(RAD21):c.815-12T>A
NM_006265.3(RAD21):c.815-15_815-5del
NM_006265.3(RAD21):c.815-17_815-5del rs35902828
NM_006265.3(RAD21):c.815-27dup rs35902828
NM_006265.3(RAD21):c.815-5_815-4dup
NM_006265.3(RAD21):c.815-5del rs35902828
NM_006265.3(RAD21):c.815-6T>A
NM_006265.3(RAD21):c.815-6_815-5del rs35902828
NM_006265.3(RAD21):c.81A>C (p.Leu27=)
NM_006265.3(RAD21):c.822G>T (p.Gly274=)
NM_006265.3(RAD21):c.838T>A (p.Ser280Thr)
NM_006265.3(RAD21):c.839C>G (p.Ser280Ter)
NM_006265.3(RAD21):c.850G>A (p.Val284Ile) rs760261220
NM_006265.3(RAD21):c.85delinsCCT (p.Lys29fs) rs1812700165
NM_006265.3(RAD21):c.865A>G (p.Thr289Ala)
NM_006265.3(RAD21):c.868A>G (p.Met290Val)
NM_006265.3(RAD21):c.871A>G (p.Thr291Ala)
NM_006265.3(RAD21):c.877C>T (p.Gln293Ter)
NM_006265.3(RAD21):c.879A>C (p.Gln293His)
NM_006265.3(RAD21):c.925A>G (p.Ile309Val)
NM_006265.3(RAD21):c.937+10T>C
NM_006265.3(RAD21):c.937+6C>T
NM_006265.3(RAD21):c.937+7A>G
NM_006265.3(RAD21):c.938-14del
NM_006265.3(RAD21):c.938-14dup
NM_006265.3(RAD21):c.943_946del (p.Glu315fs) rs2130463115
NM_006265.3(RAD21):c.948A>G (p.Thr316=)
NM_006265.3(RAD21):c.9C>T (p.Tyr3=)

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