ClinVar Miner

List of variants in gene OBSL1 studied for 3-M syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=) rs10932813 0.98738
NM_015311.3(OBSL1):c.5413+31T>A rs4672933 0.98019
NM_015311.3(OBSL1):c.4395T>C (p.Asp1465=) rs10932816 0.96819
NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg) rs10932814 0.96074
NM_015311.3(OBSL1):c.2168G>A (p.Arg723Lys) rs1039898 0.81697
NM_015311.3(OBSL1):c.921T>C (p.Leu307=) rs10180675 0.80936
NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp) rs1983210 0.69535
NM_015311.3(OBSL1):c.3561T>C (p.Pro1187=) rs2278201 0.47513
NM_015311.3(OBSL1):c.5309-29G>A rs4672934 0.46336
NM_015311.3(OBSL1):c.5309-4C>G rs34490902 0.45189
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) rs59332477 0.43789
NM_015311.3(OBSL1):c.1283-18T>A rs2292360 0.36635
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) rs1061399 0.35689
NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=) rs3087971 0.26702
NM_015311.3(OBSL1):c.4067-34T>C rs13010015 0.26103
NM_015311.3(OBSL1):c.2681-33del rs55904205 0.21002
NM_015311.3(OBSL1):c.2682C>T (p.Asp894=) rs3183099 0.20573
NM_015311.3(OBSL1):c.2055C>A (p.Ala685=) rs1043537 0.18910
NM_015311.3(OBSL1):c.1818C>T (p.Phe606=) rs61732787 0.18850
NM_015311.3(OBSL1):c.-42del rs757193063 0.13587
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
NM_015311.3(OBSL1):c.-42T>C rs879691022 0.01980
NM_015311.3(OBSL1):c.4117G>A (p.Glu1373Lys) rs140214067 0.01955
NM_015311.3(OBSL1):c.4032C>G (p.Pro1344=) rs112751766 0.01798
NM_015311.3(OBSL1):c.1884C>T (p.Tyr628=) rs115194510 0.01551
NM_015311.3(OBSL1):c.3752C>T (p.Pro1251Leu) rs145485683 0.01074
NM_015311.3(OBSL1):c.1512C>T (p.Thr504=) rs138262993 0.00857
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) rs181520135 0.00757
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876 0.00740
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_015311.3(OBSL1):c.4363T>C (p.Leu1455=) rs78420199 0.00600
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583 0.00466
NM_015311.3(OBSL1):c.5280C>T (p.Pro1760=) rs373081802 0.00398
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr) rs186692362 0.00388
NM_015311.3(OBSL1):c.3399G>A (p.Gly1133=) rs115915650 0.00387
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=) rs61732788 0.00371
NM_015311.3(OBSL1):c.569C>G (p.Ala190Gly) rs148433261 0.00361
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) rs116131367 0.00337
NM_015311.3(OBSL1):c.4067-12C>T rs144059707 0.00336
NM_015311.3(OBSL1):c.3390T>C (p.Gly1130=) rs200777549 0.00327
NM_015311.3(OBSL1):c.3159C>T (p.Pro1053=) rs115417324 0.00317
NM_015311.3(OBSL1):c.3816C>T (p.Pro1272=) rs200349173 0.00270
NM_015311.3(OBSL1):c.1734G>A (p.Pro578=) rs181182663 0.00256
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) rs142650279 0.00255
NM_015311.3(OBSL1):c.4440C>T (p.Ala1480=) rs200341414 0.00230
NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn) rs201032988 0.00210
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 0.00182
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.1912G>A (p.Asp638Asn) rs150250100 0.00145
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.96G>A (p.Lys32=) rs200451309 0.00108
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.5676G>A (p.Leu1892=) rs3795991 0.00087
NM_015311.3(OBSL1):c.4941G>T (p.Thr1647=) rs375870998 0.00076
NM_015311.3(OBSL1):c.75T>G (p.Ser25Arg) rs376818200 0.00055
NM_015311.3(OBSL1):c.2981G>A (p.Arg994His) rs139713392 0.00054
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=) rs141559295 0.00052
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser) rs117788171 0.00052
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.1599G>A (p.Thr533=) rs149009269 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.3604G>A (p.Ala1202Thr) rs201887372 0.00027
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.851G>A (p.Arg284His) rs200780633 0.00026
NM_015311.3(OBSL1):c.3127C>T (p.Arg1043Cys) rs199941785 0.00025
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) rs79796143 0.00024
NM_015311.3(OBSL1):c.729G>A (p.Pro243=) rs200417841 0.00024
NM_015311.3(OBSL1):c.1443C>G (p.Ala481=) rs373882420 0.00017
NM_015311.3(OBSL1):c.2012G>A (p.Arg671His) rs147793515 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.3850G>A (p.Gly1284Ser) rs74589174 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.1273dup (p.Thr425fs) rs762334954 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.3839G>A (p.Arg1280Gln) rs77287119 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.397G>C (p.Gly133Arg) rs556207267 0.00008
NM_015311.3(OBSL1):c.-12T>C rs781320979 0.00007
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.4420C>T (p.Arg1474Ter) rs764560783 0.00005
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.3292C>T (p.Arg1098Cys) rs768636811 0.00004
NM_015311.3(OBSL1):c.3304C>T (p.Arg1102Cys) rs562419349 0.00004
NM_015311.3(OBSL1):c.3994C>T (p.Arg1332Trp) rs200837976 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.2327C>G (p.Pro776Arg) rs371579379 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.3955C>T (p.Gln1319Ter) rs1057518717 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.600G>A (p.Arg200=) rs373739744 0.00001
NM_015311.3(OBSL1):c.907G>A (p.Val303Met) rs776142005 0.00001
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.-35C>A rs1038778819
NM_015311.3(OBSL1):c.-43_-42del rs1491488448
NM_015311.3(OBSL1):c.-43del rs747020402
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.1068_1075dup (p.Val359fs) rs2106102918
NM_015311.3(OBSL1):c.1077G>A (p.Val359=) rs1697069983
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter) rs1559155954
NM_015311.3(OBSL1):c.1149C>A (p.Cys383Ter) rs121918215
NM_015311.3(OBSL1):c.1151G>C (p.Arg384Pro) rs199678301
NM_015311.3(OBSL1):c.1187G>A (p.Arg396His) rs1559155800
NM_015311.3(OBSL1):c.1256_1265del (p.Arg419fs) rs1335171880
NM_015311.3(OBSL1):c.1260dup (p.Val421fs)
NM_015311.3(OBSL1):c.1277_1282+5del rs760929207
NM_015311.3(OBSL1):c.1296G>A (p.Lys432=) rs1349541795
NM_015311.3(OBSL1):c.1359dup (p.Glu454fs)
NM_015311.3(OBSL1):c.1390G>T (p.Asp464Tyr) rs886055666
NM_015311.3(OBSL1):c.1465C>T (p.Arg489Ter) rs121918216
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
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.1941G>T (p.Trp647Cys)
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.2135-7CA[2] rs140112967
NM_015311.3(OBSL1):c.2164del (p.Asp722fs) rs1696816233
NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)
NM_015311.3(OBSL1):c.2261A>G (p.Gln754Arg) rs886055663
NM_015311.3(OBSL1):c.2292_2320dup (p.Ile774delinsArgArgTrpMetGlyAlaAsnThrValTer)
NM_015311.3(OBSL1):c.2349T>A (p.Ser783Arg) rs778526652
NM_015311.3(OBSL1):c.2408-32T>A rs2303543
NM_015311.3(OBSL1):c.2474del (p.Val825fs) rs1057518716
NM_015311.3(OBSL1):c.2577_2578delinsTT (p.Pro860Ser) rs2106073376
NM_015311.3(OBSL1):c.2635del (p.Cys879fs) rs1696644780
NM_015311.3(OBSL1):c.2730C>A (p.Ala910=) rs10804275
NM_015311.3(OBSL1):c.2826dup (p.Ala943fs) rs759648512
NM_015311.3(OBSL1):c.3575T>C (p.Val1192Ala) rs1696162949
NM_015311.3(OBSL1):c.35dup (p.Cys13fs) rs752401295
NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs)
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.3892G>A (p.Gly1298Ser)
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.4018C>T (p.Leu1340=) rs1174786385
NM_015311.3(OBSL1):c.4024G>A (p.Asp1342Asn) rs557890380
NM_015311.3(OBSL1):c.4067-11G>A rs1983211
NM_015311.3(OBSL1):c.4067-11G>T rs1983211
NM_015311.3(OBSL1):c.4085del (p.Leu1362fs) rs2106028466
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.427dup (p.Ala143fs)
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.457_458delinsT (p.Gly153fs) rs1559160379
NM_015311.3(OBSL1):c.458dup (p.Leu154fs) rs767237510
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.5556_5557insTC (p.Lys1853fs)
NM_015311.3(OBSL1):c.5657G>A (p.Ser1886Asn) rs886055656
NM_015311.3(OBSL1):c.5684-37TC[2] rs146790993
NM_015311.3(OBSL1):c.56G>A (p.Arg19Gln) rs886055669
NM_015311.3(OBSL1):c.690dup (p.Glu231fs) rs1553538488
NM_015311.3(OBSL1):c.82G>C (p.Glu28Gln) rs555031073
NM_015311.3(OBSL1):c.848del (p.Gly283fs) rs773698181
NM_015311.3(OBSL1):c.921delinsCC (p.Tyr308fs)
NM_015311.3(OBSL1):c.993C>T (p.Ala331=) rs771686909
NM_015311.3(OBSL1):c.[1273dup;836G>A]
NM_015311.3(OBSL1):c.[1273dup];[35dup]

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