ClinVar Miner

List of variants reported as uncertain significance for Three M syndrome by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 135
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HGVS dbSNP
NM_014780.4(CUL7):c.*57A>G rs565386041
NM_014780.4(CUL7):c.*71A>G rs547477552
NM_014780.4(CUL7):c.-236G>A rs886061423
NM_014780.4(CUL7):c.-269A>G rs377101095
NM_014780.4(CUL7):c.-272C>T rs754072990
NM_014780.4(CUL7):c.-298C>G rs369727378
NM_014780.4(CUL7):c.-300G>C rs80311039
NM_014780.4(CUL7):c.1030G>A (p.Ala344Thr) rs183119565
NM_014780.4(CUL7):c.1215C>T (p.Asn405=) rs755095253
NM_014780.4(CUL7):c.1265G>T (p.Trp422Leu) rs886061420
NM_014780.4(CUL7):c.1513G>A (p.Asp505Asn) rs886061419
NM_014780.4(CUL7):c.1542G>T (p.Gln514His) rs146808129
NM_014780.4(CUL7):c.1590A>C (p.Leu530=) rs552325363
NM_014780.4(CUL7):c.161G>T (p.Gly54Val) rs886061422
NM_014780.4(CUL7):c.1664C>T (p.Ala555Val) rs747565596
NM_014780.4(CUL7):c.1716C>G (p.Ala572=) rs150213603
NM_014780.4(CUL7):c.1780G>A (p.Ala594Thr) rs141065679
NM_014780.4(CUL7):c.2115C>T (p.His705=) rs143128153
NM_014780.4(CUL7):c.2146C>T (p.Arg716Trp) rs753407734
NM_014780.4(CUL7):c.2169+5C>T rs886061418
NM_014780.4(CUL7):c.2287C>A (p.Leu763Met) rs776878896
NM_014780.4(CUL7):c.249C>T (p.Gly83=) rs764168236
NM_014780.4(CUL7):c.2563A>G (p.Lys855Glu) rs140218677
NM_014780.4(CUL7):c.2603A>G (p.Asn868Ser) rs149360738
NM_014780.4(CUL7):c.2693C>G (p.Ser898Trp) rs141829168
NM_014780.4(CUL7):c.2720T>C (p.Val907Ala) rs886061417
NM_014780.4(CUL7):c.2767-14C>T rs754969453
NM_014780.4(CUL7):c.2789G>A (p.Ser930Asn) rs61750321
NM_014780.4(CUL7):c.2803C>T (p.Leu935=) rs146309619
NM_014780.4(CUL7):c.3027C>T (p.His1009=) rs886061416
NM_014780.4(CUL7):c.3332C>T (p.Pro1111Leu) rs760768495
NM_014780.4(CUL7):c.3416T>C (p.Ile1139Thr) rs77965460
NM_014780.4(CUL7):c.3432G>A (p.Thr1144=) rs144556973
NM_014780.4(CUL7):c.3463-10T>C rs527664718
NM_014780.4(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654
NM_014780.4(CUL7):c.384T>C (p.Cys128=) rs886061421
NM_014780.4(CUL7):c.3876C>T (p.Ile1292=) rs147056081
NM_014780.4(CUL7):c.4131T>C (p.Asn1377=) rs767470504
NM_014780.4(CUL7):c.4295-14C>A rs144154816
NM_014780.4(CUL7):c.4323C>T (p.Gly1441=) rs148472550
NM_014780.4(CUL7):c.4346C>T (p.Thr1449Met) rs144111004
NM_014780.4(CUL7):c.4443G>A (p.Ala1481=) rs572367422
NM_014780.4(CUL7):c.4463T>C (p.Leu1488Pro) rs41274912
NM_014780.4(CUL7):c.4625G>A (p.Arg1542Gln) rs189054608
NM_014780.4(CUL7):c.465A>T (p.Gly155=) rs150212051
NM_014780.4(CUL7):c.4683G>A (p.Glu1561=) rs886061415
NM_014780.4(CUL7):c.4690C>T (p.Arg1564Trp) rs761970375
NM_014780.4(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246
NM_014780.4(CUL7):c.4876C>G (p.Leu1626Val) rs750060978
NM_014780.4(CUL7):c.4935C>T (p.Ser1645=) rs116910528
NM_014780.4(CUL7):c.5041C>T (p.Arg1681Trp) rs375165020
NM_014780.4(CUL7):c.5072C>T (p.Thr1691Ile) rs140092102
NM_014780.4(CUL7):c.533G>T (p.Arg178Leu) rs183865568
NM_014780.4(CUL7):c.587G>A (p.Arg196Gln) rs761377936
NM_014780.4(CUL7):c.733-12T>G rs755447863
NM_014780.4(CUL7):c.841G>A (p.Ala281Thr) rs374438135
NM_014780.4(CUL7):c.861G>A (p.Gly287=) rs61750322
NM_014780.4(CUL7):c.88G>A (p.Val30Met) rs752077507
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.-208G>C rs567328066
NM_015311.3(OBSL1):c.-209C>G rs529852516
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.-97A>G rs886055671
NM_015311.3(OBSL1):c.1035G>A (p.Arg345=) rs376475182
NM_015311.3(OBSL1):c.1075G>A (p.Val359Met) rs763498145
NM_015311.3(OBSL1):c.1151G>A (p.Arg384His) rs199678301
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=) rs61732788
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys) rs79295927
NM_015311.3(OBSL1):c.1317C>T (p.Asp439=) rs201913713
NM_015311.3(OBSL1):c.1390G>T (p.Asp464Tyr) rs886055666
NM_015311.3(OBSL1):c.1404G>A (p.Leu468=) rs886055665
NM_015311.3(OBSL1):c.1590C>T (p.His530=) rs145850612
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.1887C>T (p.Asp629=) rs377378051
NM_015311.3(OBSL1):c.189C>G (p.Asp63Glu) rs886055668
NM_015311.3(OBSL1):c.1912G>A (p.Asp638Asn) rs150250100
NM_015311.3(OBSL1):c.2077G>T (p.Ala693Ser) rs774620411
NM_015311.3(OBSL1):c.2085C>T (p.Val695=) rs762452921
NM_015311.3(OBSL1):c.2101G>A (p.Gly701Ser) rs200180548
NM_015311.3(OBSL1):c.2188A>C (p.Thr730Pro) rs200676512
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) rs142650279
NM_015311.3(OBSL1):c.2261A>G (p.Gln754Arg) rs886055663
NM_015311.3(OBSL1):c.2587C>T (p.Arg863Cys) rs765280401
NM_015311.3(OBSL1):c.2656G>A (p.Ala886Thr) rs750124482
NM_015311.3(OBSL1):c.2690C>T (p.Ser897Leu) rs748312907
NM_015311.3(OBSL1):c.2721T>C (p.Tyr907=) rs752289812
NM_015311.3(OBSL1):c.2817G>A (p.Val939=) rs558191826
NM_015311.3(OBSL1):c.2887G>A (p.Glu963Lys) rs199584687
NM_015311.3(OBSL1):c.3242T>C (p.Ile1081Thr) rs780996145
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr) rs186692362
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510
NM_015311.3(OBSL1):c.3680G>A (p.Arg1227His) rs753490289
NM_015311.3(OBSL1):c.3684A>G (p.Arg1228=) rs886055662
NM_015311.3(OBSL1):c.3752C>T (p.Pro1251Leu) rs145485683
NM_015311.3(OBSL1):c.3852C>T (p.Gly1284=) rs533142740
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876
NM_015311.3(OBSL1):c.4005C>A (p.Asp1335Glu) rs375716830
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=) rs375716830
NM_015311.3(OBSL1):c.4024G>A (p.Asp1342Asn) rs557890380
NM_015311.3(OBSL1):c.4067-12C>T rs144059707
NM_015311.3(OBSL1):c.4128T>C (p.Asp1376=) rs886055661
NM_015311.3(OBSL1):c.4147G>A (p.Val1383Ile) rs752693871
NM_015311.3(OBSL1):c.4181G>A (p.Arg1394His) rs769302847
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583
NM_015311.3(OBSL1):c.4285G>A (p.Val1429Met) rs375101491
NM_015311.3(OBSL1):c.4334G>A (p.Arg1445Gln) rs372036582
NM_015311.3(OBSL1):c.4363T>C (p.Leu1455=) rs78420199
NM_015311.3(OBSL1):c.4441G>A (p.Val1481Met) rs749067992
NM_015311.3(OBSL1):c.4454G>A (p.Arg1485Gln) rs548462567
NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn) rs201032988
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) rs201893489
NM_015311.3(OBSL1):c.4778G>A (p.Arg1593His) rs183413469
NM_015311.3(OBSL1):c.4829C>A (p.Ser1610Tyr) rs886055660
NM_015311.3(OBSL1):c.4877-15C>G rs774710450
NM_015311.3(OBSL1):c.4941G>T (p.Thr1647=) rs375870998
NM_015311.3(OBSL1):c.5101G>A (p.Ala1701Thr) rs886055659
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) rs181520135
NM_015311.3(OBSL1):c.5270C>T (p.Pro1757Leu) rs886055658
NM_015311.3(OBSL1):c.5400A>T (p.Leu1800=) rs886055657
NM_015311.3(OBSL1):c.557A>G (p.Asp186Gly) rs886055667
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.593C>A (p.Ala198Glu) rs186348476
NM_015311.3(OBSL1):c.600G>A (p.Arg200=) rs373739744
NM_015311.3(OBSL1):c.660G>C (p.Ala220=) rs746864661
NM_015311.3(OBSL1):c.729G>A (p.Pro243=) rs200417841
NM_015311.3(OBSL1):c.750C>T (p.Cys250=) rs368349283
NM_015311.3(OBSL1):c.762C>T (p.Thr254=) rs199929590
NM_015311.3(OBSL1):c.82G>C (p.Glu28Gln) rs555031073
NM_015311.3(OBSL1):c.851G>A (p.Arg284His) rs200780633

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