ClinVar Miner

List of variants reported as uncertain significance for 3-M syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 235
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.569C>G (p.Ala190Gly) rs148433261 0.00361
NM_015311.3(OBSL1):c.4440C>T (p.Ala1480=) rs200341414 0.00230
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser) rs61750320 0.00170
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys) rs79295927 0.00155
NM_015311.3(OBSL1):c.1663C>T (p.Arg555Trp) rs199991707 0.00155
NM_015311.3(OBSL1):c.4202C>T (p.Pro1401Leu) rs202141932 0.00154
NM_014780.5(CUL7):c.861G>A (p.Gly287=) rs61750322 0.00140
NM_015311.3(OBSL1):c.762C>T (p.Thr254=) rs199929590 0.00138
NM_014780.5(CUL7):c.1457G>A (p.Cys486Tyr) rs151021564 0.00128
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr) rs199936876 0.00114
NM_015311.3(OBSL1):c.4778G>A (p.Arg1593His) rs183413469 0.00111
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp) rs141692693 0.00108
NM_014780.5(CUL7):c.2115C>T (p.His705=) rs143128153 0.00098
NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser) rs200543358 0.00098
NM_015311.3(OBSL1):c.2407+11A>G rs62191613 0.00096
NM_015311.3(OBSL1):c.4941G>T (p.Thr1647=) rs375870998 0.00076
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) rs140218677 0.00053
NM_015311.3(OBSL1):c.593C>A (p.Ala198Glu) rs186348476 0.00038
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) rs200040003 0.00037
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=) rs144556973 0.00036
NM_015311.3(OBSL1):c.1035G>A (p.Arg345=) rs376475182 0.00036
NM_014780.5(CUL7):c.*57A>G rs565386041 0.00034
NM_015311.3(OBSL1):c.3444C>T (p.Ala1148=) rs370898199 0.00033
NM_014780.5(CUL7):c.*71A>G rs547477552 0.00032
NM_014780.5(CUL7):c.-236G>A rs886061423 0.00029
NM_015311.3(OBSL1):c.4484G>A (p.Arg1495His) rs374911539 0.00029
NM_015311.3(OBSL1):c.1722C>T (p.Ala574=) rs377614503 0.00028
NM_015311.3(OBSL1):c.2392G>A (p.Gly798Ser) rs201462216 0.00026
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) rs201893489 0.00026
NM_015311.3(OBSL1):c.5229G>T (p.Ser1743=) rs371141615 0.00026
NM_015311.3(OBSL1):c.3127C>T (p.Arg1043Cys) rs199941785 0.00025
NM_014780.5(CUL7):c.1716C>G (p.Ala572=) rs150213603 0.00023
NM_014780.5(CUL7):c.3283C>T (p.Arg1095Cys) rs150015706 0.00023
NM_014780.5(CUL7):c.2789G>A (p.Ser930Asn) rs61750321 0.00022
NM_014780.5(CUL7):c.2819G>A (p.Arg940His) rs201130952 0.00017
NM_014780.5(CUL7):c.5093G>A (p.Arg1698Gln) rs541161018 0.00017
NM_015311.3(OBSL1):c.1443C>G (p.Ala481=) rs373882420 0.00017
NM_014780.5(CUL7):c.2693C>G (p.Ser898Trp) rs141829168 0.00016
NM_015311.3(OBSL1):c.2887G>A (p.Glu963Lys) rs199584687 0.00016
NM_014780.5(CUL7):c.4346C>T (p.Thr1449Met) rs144111004 0.00014
NM_015311.3(OBSL1):c.2103C>T (p.Gly701=) rs368538357 0.00014
NM_015311.3(OBSL1):c.2619C>T (p.Asp873=) rs769179933 0.00014
NM_014780.5(CUL7):c.767G>A (p.Arg256Gln) rs151210822 0.00013
NM_015311.3(OBSL1):c.1151G>A (p.Arg384His) rs199678301 0.00013
NM_015311.3(OBSL1):c.2188A>C (p.Thr730Pro) rs200676512 0.00013
NM_015311.3(OBSL1):c.2104G>A (p.Val702Met) rs199890334 0.00011
NM_015311.3(OBSL1):c.4285G>A (p.Val1429Met) rs375101491 0.00011
NM_014780.5(CUL7):c.4443G>A (p.Ala1481=) rs572367422 0.00010
NM_014780.5(CUL7):c.5072C>T (p.Thr1691Ile) rs140092102 0.00010
NM_014780.5(CUL7):c.3284G>A (p.Arg1095His) rs188419107 0.00009
NM_014780.5(CUL7):c.3915G>A (p.Leu1305=) rs376630030 0.00009
NM_015311.3(OBSL1):c.1887C>T (p.Asp629=) rs377378051 0.00009
NM_015311.3(OBSL1):c.2706C>T (p.Pro902=) rs747837754 0.00009
NM_015311.3(OBSL1):c.367T>C (p.Ser123Pro) rs748291209 0.00009
NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln) rs560822587 0.00009
NM_015311.3(OBSL1):c.4133C>T (p.Thr1378Met) rs200449388 0.00009
NM_015311.3(OBSL1):c.4454G>A (p.Arg1485Gln) rs548462567 0.00009
NM_015311.3(OBSL1):c.5245G>A (p.Gly1749Arg) rs549049375 0.00009
NM_014780.5(CUL7):c.-206A>G rs1281399761 0.00008
NM_014780.5(CUL7):c.426C>T (p.His142=) rs138730481 0.00008
NM_015311.3(OBSL1):c.1158C>T (p.Tyr386=) rs369829562 0.00007
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=) rs141211365 0.00006
NM_014780.5(CUL7):c.4625G>A (p.Arg1542Gln) rs189054608 0.00006
NM_014780.5(CUL7):c.5041C>T (p.Arg1681Trp) rs375165020 0.00006
NM_014780.5(CUL7):c.509T>G (p.Leu170Trp) rs138430226 0.00006
NM_015311.3(OBSL1):c.1268A>G (p.Asn423Ser) rs374200326 0.00006
NM_015311.3(OBSL1):c.268G>A (p.Ala90Thr) rs1438844681 0.00006
NM_015311.3(OBSL1):c.3937G>A (p.Gly1313Arg) rs766548555 0.00006
NM_015311.3(OBSL1):c.4609+12G>A rs367810594 0.00006
NM_015311.3(OBSL1):c.660G>C (p.Ala220=) rs746864661 0.00006
NM_014780.5(CUL7):c.1867C>T (p.Arg623Cys) rs147775109 0.00005
NM_014780.5(CUL7):c.4823G>A (p.Ser1608Asn) rs181823275 0.00005
NM_014780.5(CUL7):c.587G>A (p.Arg196Gln) rs761377936 0.00005
NM_015311.3(OBSL1):c.4610-6G>A rs373972208 0.00005
NM_014780.5(CUL7):c.1749A>G (p.Leu583=) rs775748613 0.00004
NM_014780.5(CUL7):c.2146C>T (p.Arg716Trp) rs753407734 0.00004
NM_014780.5(CUL7):c.2767-14C>T rs754969453 0.00004
NM_014780.5(CUL7):c.2885G>A (p.Arg962Gln) rs761386869 0.00004
NM_014780.5(CUL7):c.3463-10T>C rs527664718 0.00004
NM_014780.5(CUL7):c.3463-15G>T rs757487546 0.00004
NM_014780.5(CUL7):c.3491G>A (p.Arg1164Gln) rs764000209 0.00004
NM_014780.5(CUL7):c.3605C>T (p.Ala1202Val) rs762601845 0.00004
NM_014780.5(CUL7):c.4417C>T (p.Leu1473=) rs201386557 0.00004
NM_014780.5(CUL7):c.4607C>T (p.Ser1536Leu) rs765173994 0.00004
NM_014780.5(CUL7):c.4876C>G (p.Leu1626Val) rs750060978 0.00004
NM_014780.5(CUL7):c.4972G>A (p.Glu1658Lys) rs143717016 0.00004
NM_015311.3(OBSL1):c.-21T>C rs946779356 0.00004
NM_015311.3(OBSL1):c.-59C>T rs994579179 0.00004
NM_015311.3(OBSL1):c.1195A>G (p.Ile399Val) rs756996265 0.00004
NM_015311.3(OBSL1):c.1237G>A (p.Glu413Lys) rs2292359 0.00004
NM_015311.3(OBSL1):c.1733C>T (p.Pro578Leu) rs373150189 0.00004
NM_015311.3(OBSL1):c.2791T>G (p.Trp931Gly) rs778567613 0.00004
NM_015311.3(OBSL1):c.2858G>A (p.Arg953His) rs377679865 0.00004
NM_015311.3(OBSL1):c.2896G>A (p.Gly966Ser) rs374693718 0.00004
NM_015311.3(OBSL1):c.3275A>G (p.His1092Arg) rs755507712 0.00004
NM_015311.3(OBSL1):c.4147G>A (p.Val1383Ile) rs752693871 0.00004
NM_015311.3(OBSL1):c.4181G>A (p.Arg1394His) rs769302847 0.00004
NM_015311.3(OBSL1):c.5243C>T (p.Thr1748Met) rs755217589 0.00004
NM_015311.3(OBSL1):c.557A>G (p.Asp186Gly) rs886055667 0.00004
NM_014780.5(CUL7):c.1590A>C (p.Leu530=) rs552325363 0.00003
NM_014780.5(CUL7):c.1664C>T (p.Ala555Val) rs747565596 0.00003
NM_014780.5(CUL7):c.2360G>A (p.Arg787His) rs200899810 0.00003
NM_014780.5(CUL7):c.2586G>T (p.Lys862Asn) rs749595977 0.00003
NM_014780.5(CUL7):c.268G>A (p.Gly90Arg) rs370127154 0.00003
NM_014780.5(CUL7):c.88G>A (p.Val30Met) rs752077507 0.00003
NM_015311.3(OBSL1):c.1075G>A (p.Val359Met) rs763498145 0.00003
NM_015311.3(OBSL1):c.1136G>A (p.Arg379Gln) rs756906456 0.00003
NM_015311.3(OBSL1):c.202G>A (p.Gly68Ser) rs762604451 0.00003
NM_015311.3(OBSL1):c.2638G>A (p.Val880Ile) rs781481635 0.00003
NM_015311.3(OBSL1):c.2690C>T (p.Ser897Leu) rs748312907 0.00003
NM_015311.3(OBSL1):c.3078G>C (p.Gly1026=) rs190405420 0.00003
NM_015311.3(OBSL1):c.4441G>A (p.Val1481Met) rs749067992 0.00003
NM_014780.5(CUL7):c.1689T>C (p.His563=) rs753550369 0.00002
NM_014780.5(CUL7):c.1823A>G (p.Glu608Gly) rs199819170 0.00002
NM_014780.5(CUL7):c.2818C>T (p.Arg940Cys) rs150327473 0.00002
NM_014780.5(CUL7):c.3080G>A (p.Arg1027His) rs142250046 0.00002
NM_014780.5(CUL7):c.3332C>T (p.Pro1111Leu) rs760768495 0.00002
NM_014780.5(CUL7):c.4059C>T (p.Ser1353=) rs748157885 0.00002
NM_014780.5(CUL7):c.866G>C (p.Arg289Thr) rs753386800 0.00002
NM_015311.3(OBSL1):c.1167C>T (p.Ile389=) rs771196625 0.00002
NM_015311.3(OBSL1):c.1317C>T (p.Asp439=) rs201913713 0.00002
NM_015311.3(OBSL1):c.2101G>A (p.Gly701Ser) rs200180548 0.00002
NM_015311.3(OBSL1):c.2587C>T (p.Arg863Cys) rs765280401 0.00002
NM_015311.3(OBSL1):c.2817G>A (p.Val939=) rs558191826 0.00002
NM_015311.3(OBSL1):c.3680G>A (p.Arg1227His) rs753490289 0.00002
NM_015311.3(OBSL1):c.4152C>T (p.Ser1384=) rs957696912 0.00002
NM_015311.3(OBSL1):c.4334G>A (p.Arg1445Gln) rs372036582 0.00002
NM_015311.3(OBSL1):c.463C>T (p.Pro155Ser) rs547450690 0.00002
NM_015311.3(OBSL1):c.750C>T (p.Cys250=) rs368349283 0.00002
NM_015311.3(OBSL1):c.765C>T (p.Phe255=) rs751927713 0.00002
NM_014780.5(CUL7):c.1005G>A (p.Leu335=) rs201310376 0.00001
NM_014780.5(CUL7):c.1165T>C (p.Tyr389His) rs201953649 0.00001
NM_014780.5(CUL7):c.1215C>T (p.Asn405=) rs755095253 0.00001
NM_014780.5(CUL7):c.1265G>T (p.Trp422Leu) rs886061420 0.00001
NM_014780.5(CUL7):c.161G>T (p.Gly54Val) rs886061422 0.00001
NM_014780.5(CUL7):c.1753G>A (p.Ala585Thr) rs770077329 0.00001
NM_014780.5(CUL7):c.2287C>A (p.Leu763Met) rs776878896 0.00001
NM_014780.5(CUL7):c.249C>T (p.Gly83=) rs764168236 0.00001
NM_014780.5(CUL7):c.2720T>C (p.Val907Ala) rs886061417 0.00001
NM_014780.5(CUL7):c.3184A>G (p.Ile1062Val) rs748818384 0.00001
NM_014780.5(CUL7):c.384T>C (p.Cys128=) rs886061421 0.00001
NM_014780.5(CUL7):c.4035G>A (p.Gly1345=) rs758986941 0.00001
NM_014780.5(CUL7):c.4069G>A (p.Glu1357Lys) rs78682787 0.00001
NM_014780.5(CUL7):c.4131T>C (p.Asn1377=) rs767470504 0.00001
NM_014780.5(CUL7):c.4440+13C>T rs144245050 0.00001
NM_014780.5(CUL7):c.4570G>A (p.Val1524Ile) rs369045809 0.00001
NM_014780.5(CUL7):c.4605G>A (p.Arg1535=) rs1363062305 0.00001
NM_014780.5(CUL7):c.4690C>T (p.Arg1564Trp) rs761970375 0.00001
NM_014780.5(CUL7):c.841G>A (p.Ala281Thr) rs374438135 0.00001
NM_015311.3(OBSL1):c.-97A>G rs886055671 0.00001
NM_015311.3(OBSL1):c.1228T>C (p.Tyr410His) rs563580301 0.00001
NM_015311.3(OBSL1):c.1298G>A (p.Arg433His) rs763001564 0.00001
NM_015311.3(OBSL1):c.1311G>T (p.Lys437Asn) rs771801313 0.00001
NM_015311.3(OBSL1):c.1404G>A (p.Leu468=) rs886055665 0.00001
NM_015311.3(OBSL1):c.142G>A (p.Gly48Ser) rs994677442 0.00001
NM_015311.3(OBSL1):c.1590C>T (p.His530=) rs145850612 0.00001
NM_015311.3(OBSL1):c.2085C>T (p.Val695=) rs762452921 0.00001
NM_015311.3(OBSL1):c.2498G>A (p.Arg833Gln) rs754132672 0.00001
NM_015311.3(OBSL1):c.2656G>A (p.Ala886Thr) rs750124482 0.00001
NM_015311.3(OBSL1):c.2721T>C (p.Tyr907=) rs752289812 0.00001
NM_015311.3(OBSL1):c.2731G>A (p.Val911Met) rs772500074 0.00001
NM_015311.3(OBSL1):c.2977C>T (p.Pro993Ser) rs1292400698 0.00001
NM_015311.3(OBSL1):c.3242T>C (p.Ile1081Thr) rs780996145 0.00001
NM_015311.3(OBSL1):c.3355C>T (p.Leu1119=) rs750782462 0.00001
NM_015311.3(OBSL1):c.3415A>C (p.Thr1139Pro) rs748797002 0.00001
NM_015311.3(OBSL1):c.3591G>C (p.Leu1197=) rs748453233 0.00001
NM_015311.3(OBSL1):c.3852C>T (p.Gly1284=) rs533142740 0.00001
NM_015311.3(OBSL1):c.3853G>A (p.Gly1285Arg) rs570704076 0.00001
NM_015311.3(OBSL1):c.4183A>G (p.Asn1395Asp) rs760052544 0.00001
NM_015311.3(OBSL1):c.46C>A (p.Arg16Ser) rs1395696695 0.00001
NM_015311.3(OBSL1):c.4829C>A (p.Ser1610Tyr) rs886055660 0.00001
NM_015311.3(OBSL1):c.4950C>T (p.Cys1650=) rs556686718 0.00001
NM_015311.3(OBSL1):c.5270C>T (p.Pro1757Leu) rs886055658 0.00001
NM_015311.3(OBSL1):c.5593C>T (p.Leu1865=) rs370898052 0.00001
NM_015311.3(OBSL1):c.907G>A (p.Val303Met) rs776142005 0.00001
NM_014780.4(CUL7):c.2767_2789delGTGAATGTGATGCCCTCTGCCAG
NM_014780.5(CUL7):c.-186A>C rs1159816166
NM_014780.5(CUL7):c.1101T>C (p.Asn367=) rs1764361426
NM_014780.5(CUL7):c.140G>T (p.Arg47Leu) rs535734678
NM_014780.5(CUL7):c.1417G>A (p.Val473Met) rs1764269879
NM_014780.5(CUL7):c.1513G>A (p.Asp505Asn) rs886061419
NM_014780.5(CUL7):c.213G>C (p.Lys71Asn) rs1764513779
NM_014780.5(CUL7):c.2169+5C>T rs886061418
NM_014780.5(CUL7):c.2581C>T (p.Pro861Ser) rs147452416
NM_014780.5(CUL7):c.2583C>G (p.Pro861=) rs1763899878
NM_014780.5(CUL7):c.2754G>T (p.Thr918=) rs138777262
NM_014780.5(CUL7):c.3027C>T (p.His1009=) rs886061416
NM_014780.5(CUL7):c.4683G>A (p.Glu1561=) rs886061415
NM_014780.5(CUL7):c.533G>T (p.Arg178Leu) rs183865568
NM_014780.5(CUL7):c.60C>T (p.Ala20=) rs1764530830
NM_014780.5(CUL7):c.733-12T>G rs755447863
NM_014780.5(CUL7):c.922G>T (p.Val308Leu) rs1064795325
NM_015311.3(OBSL1):c.*102_*103insTA rs538538342
NM_015311.3(OBSL1):c.-165G>C rs886055672
NM_015311.3(OBSL1):c.-190C>T rs886055673
NM_015311.3(OBSL1):c.-209C>G rs529852516
NM_015311.3(OBSL1):c.-35C>A rs1038778819
NM_015311.3(OBSL1):c.-43_-42del rs1491488448
NM_015311.3(OBSL1):c.-43dup rs747020402
NM_015311.3(OBSL1):c.-51A>C rs796511004
NM_015311.3(OBSL1):c.-51A>T rs796511004
NM_015311.3(OBSL1):c.-73C>T rs1005228764
NM_015311.3(OBSL1):c.1077G>A (p.Val359=) rs1697069983
NM_015311.3(OBSL1):c.1151G>C (p.Arg384Pro) rs199678301
NM_015311.3(OBSL1):c.1296G>A (p.Lys432=) rs1349541795
NM_015311.3(OBSL1):c.1390G>T (p.Asp464Tyr) rs886055666
NM_015311.3(OBSL1):c.1787G>A (p.Ser596Asn) rs886055664
NM_015311.3(OBSL1):c.1850G>A (p.Arg617His) rs369705959
NM_015311.3(OBSL1):c.1850G>T (p.Arg617Leu) rs369705959
NM_015311.3(OBSL1):c.189C>G (p.Asp63Glu) rs886055668
NM_015311.3(OBSL1):c.1911C>G (p.Leu637=) rs1431657167
NM_015311.3(OBSL1):c.1966A>G (p.Ser656Gly) rs757444299
NM_015311.3(OBSL1):c.2077G>T (p.Ala693Ser) rs774620411
NM_015311.3(OBSL1):c.2261A>G (p.Gln754Arg) rs886055663
NM_015311.3(OBSL1):c.2349T>A (p.Ser783Arg) rs778526652
NM_015311.3(OBSL1):c.2826dup (p.Ala943fs) rs759648512
NM_015311.3(OBSL1):c.3575T>C (p.Val1192Ala) rs1696162949
NM_015311.3(OBSL1):c.3682C>G (p.Arg1228Gly) rs766007675
NM_015311.3(OBSL1):c.3684A>G (p.Arg1228=) rs886055662
NM_015311.3(OBSL1):c.4005C>A (p.Asp1335Glu) rs375716830
NM_015311.3(OBSL1):c.4018C>T (p.Leu1340=) rs1174786385
NM_015311.3(OBSL1):c.4128T>C (p.Asp1376=) rs886055661
NM_015311.3(OBSL1):c.4194C>A (p.Val1398=) rs772150568
NM_015311.3(OBSL1):c.4419C>T (p.Gly1473=) rs752057894
NM_015311.3(OBSL1):c.4448G>A (p.Trp1483Ter) rs769517574
NM_015311.3(OBSL1):c.4850G>A (p.Arg1617His) rs375418681
NM_015311.3(OBSL1):c.4877-15C>G rs774710450
NM_015311.3(OBSL1):c.5101G>A (p.Ala1701Thr) rs886055659
NM_015311.3(OBSL1):c.5210C>A (p.Thr1737Lys) rs199594182
NM_015311.3(OBSL1):c.5400A>T (p.Leu1800=) rs886055657
NM_015311.3(OBSL1):c.5487G>A (p.Glu1829=) rs201113762
NM_015311.3(OBSL1):c.5657G>A (p.Ser1886Asn) rs886055656
NM_015311.3(OBSL1):c.56G>A (p.Arg19Gln) rs886055669
NM_015311.3(OBSL1):c.82G>C (p.Glu28Gln) rs555031073
NM_015311.3(OBSL1):c.993C>T (p.Ala331=) rs771686909

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.