ClinVar Miner

List of variants studied 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: 338
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HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=) rs10932813 0.98738
NM_014780.5(CUL7):c.2439A>G (p.Gln813=) rs9394939 0.97892
NM_014780.5(CUL7):c.2438A>G (p.Gln813Arg) rs9381231 0.97891
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.5309-4C>G rs34490902 0.45189
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) rs59332477 0.43789
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) rs1061399 0.35689
NM_014780.5(CUL7):c.3993G>A (p.Leu1331=) rs2273917 0.27596
NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=) rs3087971 0.26702
NM_014780.5(CUL7):c.339C>T (p.Asp113=) rs4711738 0.22523
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_014780.5(CUL7):c.-168C>T rs3737186 0.09184
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
NM_014780.5(CUL7):c.4794G>A (p.Lys1598=) rs61437700 0.02584
NM_014780.5(CUL7):c.2555G>A (p.Arg852Gln) rs34574340 0.02119
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_014780.5(CUL7):c.2612C>T (p.Ala871Val) rs61732148 0.01767
NM_015311.3(OBSL1):c.1884C>T (p.Tyr628=) rs115194510 0.01551
NM_014780.5(CUL7):c.1202G>A (p.Arg401Gln) rs73733791 0.01429
NM_014780.5(CUL7):c.1027C>T (p.Pro343Ser) rs113845886 0.01387
NM_014780.5(CUL7):c.3096C>T (p.Asp1032=) rs138276478 0.01292
NM_014780.5(CUL7):c.1846A>G (p.Ser616Gly) rs7774330 0.01270
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_014780.5(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246 0.00727
NM_014780.5(CUL7):c.1780G>A (p.Ala594Thr) rs141065679 0.00707
NM_014780.5(CUL7):c.4463T>C (p.Leu1488Pro) rs41274912 0.00688
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_014780.5(CUL7):c.5088C>T (p.Thr1696=) rs73733789 0.00426
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_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_015311.3(OBSL1):c.1912G>A (p.Asp638Asn) rs150250100 0.00145
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_014780.4(CUL7):c.-300G>C rs80311039 0.00120
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_015311.3(OBSL1):c.96G>A (p.Lys32=) rs200451309 0.00108
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=) rs139243761 0.00107
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654 0.00102
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_014780.5(CUL7):c.465A>T (p.Gly155=) rs150212051 0.00094
NM_014780.5(CUL7):c.2803C>T (p.Leu935=) rs146309619 0.00091
NM_014780.5(CUL7):c.3695G>A (p.Arg1232Gln) rs36004037 0.00089
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_014780.5(CUL7):c.1982G>A (p.Arg661Gln) rs139887350 0.00068
NM_014780.5(CUL7):c.4323C>T (p.Gly1441=) rs148472550 0.00066
NM_014780.5(CUL7):c.4898C>T (p.Thr1633Met) rs139249497 0.00063
NM_015311.3(OBSL1):c.2981G>A (p.Arg994His) rs139713392 0.00054
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) rs140218677 0.00053
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_014780.5(CUL7):c.4935C>T (p.Ser1645=) rs116910528 0.00049
NM_014780.5(CUL7):c.3876C>T (p.Ile1292=) rs147056081 0.00046
NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr) rs183119565 0.00042
NM_015311.3(OBSL1):c.593C>A (p.Ala198Glu) rs186348476 0.00038
NM_014780.4(CUL7):c.-269A>G rs377101095 0.00037
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) rs200040003 0.00037
NM_014780.5(CUL7):c.1542G>T (p.Gln514His) rs146808129 0.00036
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_014780.5(CUL7):c.3416T>C (p.Ile1139Thr) rs77965460 0.00034
NM_014780.4(CUL7):c.-272C>T rs754072990 0.00033
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_014780.5(CUL7):c.*71A>G rs547477552 0.00027
NM_014780.5(CUL7):c.2789G>A (p.Ser930Asn) rs61750321 0.00027
NM_015311.3(OBSL1):c.3604G>A (p.Ala1202Thr) rs201887372 0.00027
NM_014780.4(CUL7):c.-298C>G rs369727378 0.00026
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_014780.5(CUL7):c.4261A>G (p.Thr1421Ala) rs191578513 0.00024
NM_015311.3(OBSL1):c.729G>A (p.Pro243=) rs200417841 0.00024
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_015311.3(OBSL1):c.2188A>C (p.Thr730Pro) rs200676512 0.00018
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_015311.3(OBSL1):c.2012G>A (p.Arg671His) rs147793515 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_015311.3(OBSL1):c.5308+12T>G rs377219196 0.00015
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_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser) rs74589174 0.00014
NM_014780.5(CUL7):c.-236G>A rs886061423 0.00013
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.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_014780.5(CUL7):c.5041C>T (p.Arg1681Trp) rs375165020 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_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.3937G>A (p.Gly1313Arg) rs766548555 0.00008
NM_015311.3(OBSL1):c.397G>C (p.Gly133Arg) rs556207267 0.00008
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser) rs149360738 0.00007
NM_015311.3(OBSL1):c.-12T>C rs781320979 0.00007
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.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.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.3304C>T (p.Arg1102Cys) rs562419349 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.600G>A (p.Arg200=) rs373739744 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.4295-14C>A rs144154816
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.-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.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.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.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.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.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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