ClinVar Miner

List of variants reported as uncertain significance for 3M syndrome 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 139
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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_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_015311.3(OBSL1):c.762C>T (p.Thr254=) rs199929590 0.00138
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_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_015311.3(OBSL1):c.593C>A (p.Ala198Glu) rs186348476 0.00038
NM_015311.3(OBSL1):c.1035G>A (p.Arg345=) rs376475182 0.00036
NM_015311.3(OBSL1):c.3444C>T (p.Ala1148=) rs370898199 0.00033
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_015311.3(OBSL1):c.1443C>G (p.Ala481=) rs373882420 0.00017
NM_015311.3(OBSL1):c.2887G>A (p.Glu963Lys) rs199584687 0.00016
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_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_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_015311.3(OBSL1):c.1158C>T (p.Tyr386=) rs369829562 0.00007
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_015311.3(OBSL1):c.4610-6G>A rs373972208 0.00005
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_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_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_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_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.-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

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