ClinVar Miner

List of variants studied for Cornelia de Lange syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 277
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.3039A>G (p.Ser1013=) rs2419565 0.98861
NM_006306.4(SMC1A):c.-19C>T rs1264011 0.42752
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200 0.13068
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471 0.12117
NM_005445.4(SMC3):c.970-8G>A rs11195199 0.11151
NM_005445.4(SMC3):c.351-9T>C rs78663177 0.06159
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=) rs75323904 0.06157
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756 0.03533
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445 0.03530
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_133433.4(NIPBL):c.4240-14T>G rs298972 0.01903
NM_006306.4(SMC1A):c.*5481G>A rs147896900 0.01746
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425 0.01529
NM_006306.4(SMC1A):c.412-10C>T rs149219651 0.01511
NM_006306.4(SMC1A):c.*96C>T rs139317060 0.01188
NM_006306.4(SMC1A):c.*3838G>A rs144702614 0.01053
NM_006306.4(SMC1A):c.*2973C>T rs56110615 0.01037
NM_005445.4(SMC3):c.*158G>A rs183542538 0.01009
NM_006306.4(SMC1A):c.*2423G>A rs147324052 0.00991
NM_005445.4(SMC3):c.1092-8T>G rs79912955 0.00975
NM_133433.4(NIPBL):c.3121+11T>G rs457583 0.00941
NM_006306.4(SMC1A):c.*5016T>C rs17002602 0.00919
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854 0.00882
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_006306.4(SMC1A):c.*2389G>T rs114329529 0.00775
NM_006306.4(SMC1A):c.*5380G>A rs186354950 0.00739
NM_006306.4(SMC1A):c.*4645T>C rs150365487 0.00678
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=) rs75817442 0.00402
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_005445.4(SMC3):c.*332A>G rs117538515 0.00334
NM_006306.4(SMC1A):c.*4952_*4953del rs782700101 0.00325
NM_006306.4(SMC1A):c.*4887T>C rs142173620 0.00318
NM_006306.4(SMC1A):c.*3421G>T rs41304780 0.00288
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_133433.4(NIPBL):c.-312T>A rs540966156 0.00284
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_006306.4(SMC1A):c.*1542T>C rs781783328 0.00263
NM_006306.4(SMC1A):c.1254+11G>C rs144354524 0.00258
NM_133433.4(NIPBL):c.4320+14A>G rs377381536 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_005445.4(SMC3):c.*297T>A rs188322637 0.00157
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_005445.4(SMC3):c.2934G>A (p.Lys978=) rs147463420 0.00135
NM_005445.4(SMC3):c.2329T>C (p.Leu777=) rs76625999 0.00132
NM_005445.4(SMC3):c.1671-6A>G rs200848781 0.00124
NM_005445.4(SMC3):c.*329C>T rs182524436 0.00123
NM_005445.4(SMC3):c.-74C>A rs376252081 0.00122
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_006306.4(SMC1A):c.*2609A>C rs192734396 0.00092
NM_005445.4(SMC3):c.276T>C (p.Asp92=) rs199936534 0.00073
NM_006306.4(SMC1A):c.*2435T>G rs782650092 0.00062
NM_006306.4(SMC1A):c.*488A>G rs956422392 0.00061
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_133433.4(NIPBL):c.-243A>C rs544681871 0.00057
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=) rs148542094 0.00056
NM_006306.4(SMC1A):c.*4382A>G rs906340789 0.00055
NM_006306.4(SMC1A):c.*5444G>A rs181871602 0.00055
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=) rs145952190 0.00051
NM_006306.4(SMC1A):c.*4443G>A rs782630117 0.00050
NM_006306.4(SMC1A):c.*5355G>A rs782143840 0.00050
NM_133433.4(NIPBL):c.5709+4G>A rs370325589 0.00050
NM_006306.4(SMC1A):c.*2948G>T rs183355603 0.00049
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_005445.4(SMC3):c.2535+15T>G rs3818903 0.00040
NM_006306.4(SMC1A):c.*5489G>T rs1007398058 0.00040
NM_133433.4(NIPBL):c.*334G>A rs181989563 0.00040
NM_133433.4(NIPBL):c.5011-13A>G rs13177643 0.00038
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_006306.4(SMC1A):c.*1961C>T rs986586627 0.00036
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_005445.4(SMC3):c.*304T>G rs755315364 0.00035
NM_005445.4(SMC3):c.*17A>G rs199611616 0.00032
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile) rs147743879 0.00032
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446 0.00029
NM_006306.4(SMC1A):c.*578C>T rs782042924 0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_006306.4(SMC1A):c.*1239T>C rs782502306 0.00023
NM_006306.4(SMC1A):c.*3851A>T rs782817464 0.00023
NM_006306.4(SMC1A):c.*5946C>T rs972532010 0.00021
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=) rs116049172 0.00019
NM_006306.4(SMC1A):c.*2856A>T rs148128199 0.00018
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=) rs376637245 0.00016
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=) rs139177541 0.00014
NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln) rs201162818 0.00013
NM_006306.4(SMC1A):c.*3777C>G rs41315082 0.00013
NM_133433.4(NIPBL):c.-307C>T rs377354585 0.00013
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951 0.00013
NM_005445.4(SMC3):c.2782C>A (p.Arg928=) rs202034783 0.00011
NM_006306.4(SMC1A):c.*381A>G rs184957599 0.00011
NM_133433.4(NIPBL):c.-265A>G rs879291582 0.00011
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_006306.4(SMC1A):c.*1914A>G rs964056946 0.00010
NM_006306.4(SMC1A):c.*3025C>T rs782139355 0.00010
NM_006306.4(SMC1A):c.*348C>T rs782700234 0.00010
NM_133433.4(NIPBL):c.4776+12G>A rs199632698 0.00010
NM_005445.4(SMC3):c.970-14T>C rs200511874 0.00009
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703 0.00009
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) rs749296628 0.00009
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=) rs147865925 0.00008
NM_006306.4(SMC1A):c.*2540C>G rs182535846 0.00007
NM_006306.4(SMC1A):c.*2589A>G rs782291666 0.00007
NM_005445.4(SMC3):c.-115T>C rs886046691 0.00006
NM_005445.4(SMC3):c.1670+6_1670+7insAAC rs766155607 0.00006
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324 0.00006
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=) rs376448686 0.00006
NM_133433.4(NIPBL):c.7047T>C (p.Tyr2349=) rs398124470 0.00006
NM_006306.4(SMC1A):c.*1040G>A rs79382603 0.00005
NM_006306.4(SMC1A):c.*2050T>C rs1057515964 0.00005
NM_006306.4(SMC1A):c.*2225G>A rs1047323522 0.00005
NM_006306.4(SMC1A):c.*4998T>C rs899071356 0.00005
NM_133433.4(NIPBL):c.*551G>C rs760747084 0.00005
NM_133433.4(NIPBL):c.2137A>G (p.Thr713Ala) rs773534683 0.00005
NM_005445.4(SMC3):c.2268+4C>T rs587784426 0.00004
NM_006306.4(SMC1A):c.*2663C>T rs1057515961 0.00004
NM_006306.4(SMC1A):c.*4156A>G rs999754790 0.00004
NM_006306.4(SMC1A):c.*703G>T rs189126241 0.00004
NM_133433.4(NIPBL):c.-410C>T rs886060554 0.00004
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg) rs150837768 0.00004
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val) rs749926228 0.00004
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) rs587783913 0.00004
NM_133433.4(NIPBL):c.689A>G (p.Asn230Ser) rs369282785 0.00004
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys) rs587784058 0.00004
NM_005445.3(SMC3):c.-135G>A rs17127559 0.00003
NM_005445.4(SMC3):c.198+7G>A rs765985488 0.00003
NM_005445.4(SMC3):c.2589A>G (p.Thr863=) rs768482776 0.00003
NM_006306.4(SMC1A):c.*4087G>A rs1057515957 0.00003
NM_006306.4(SMC1A):c.*4581T>C rs1057515955 0.00003
NM_006306.4(SMC1A):c.*675A>G rs1415804526 0.00003
NM_133433.4(NIPBL):c.*32A>T rs758539444 0.00003
NM_133433.4(NIPBL):c.*545A>G rs886060566 0.00003
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152 0.00003
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=) rs371566938 0.00003
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln) rs61755039 0.00003
NM_133433.4(NIPBL):c.8139T>C (p.Ile2713=) rs1187325987 0.00003
NM_005445.3(SMC3):c.-130G>A rs559499419 0.00002
NM_005445.4(SMC3):c.*327G>C rs1030439322 0.00002
NM_005445.4(SMC3):c.-65T>A rs886046692 0.00002
NM_005445.4(SMC3):c.2656T>G (p.Ser886Ala) rs775665831 0.00002
NM_005445.4(SMC3):c.369C>T (p.Asn123=) rs779773957 0.00002
NM_006306.4(SMC1A):c.*1934T>C rs1311438037 0.00002
NM_006306.4(SMC1A):c.*3484G>A rs1215730078 0.00002
NM_006306.4(SMC1A):c.*4367T>C rs1003358509 0.00002
NM_006306.4(SMC1A):c.*5197T>C rs782050365 0.00002
NM_006306.4(SMC1A):c.-7G>A rs1368401429 0.00002
NM_133433.4(NIPBL):c.1228A>G (p.Ile410Val) rs141010980 0.00002
NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=) rs373206831 0.00002
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys) rs780708835 0.00002
NM_005445.4(SMC3):c.*228C>T rs1486030712 0.00001
NM_005445.4(SMC3):c.-90G>A rs1333533101 0.00001
NM_005445.4(SMC3):c.1671-4T>C rs201392611 0.00001
NM_005445.4(SMC3):c.1998G>C (p.Gly666=) rs142669130 0.00001
NM_005445.4(SMC3):c.2163C>T (p.Ile721=) rs1193209124 0.00001
NM_005445.4(SMC3):c.2645-8C>T rs886046695 0.00001
NM_005445.4(SMC3):c.3321T>C (p.Gly1107=) rs184870066 0.00001
NM_006306.4(SMC1A):c.*2086T>C rs1173339282 0.00001
NM_006306.4(SMC1A):c.*3596C>T rs2075560234 0.00001
NM_006306.4(SMC1A):c.*3671C>T rs1057515959 0.00001
NM_006306.4(SMC1A):c.*41G>A rs782548345 0.00001
NM_006306.4(SMC1A):c.*5251G>T rs188308804 0.00001
NM_006306.4(SMC1A):c.*5451A>G rs782308559 0.00001
NM_006306.4(SMC1A):c.*5692G>A rs1057515952 0.00001
NM_006306.4(SMC1A):c.*5855G>T rs1289923605 0.00001
NM_006306.4(SMC1A):c.*931A>G rs782237045 0.00001
NM_006306.4(SMC1A):c.1917G>A (p.Val639=) rs782292864 0.00001
NM_133433.4(NIPBL):c.*351G>A rs185780527 0.00001
NM_133433.4(NIPBL):c.-379G>A rs886060555 0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 0.00001
NM_133433.4(NIPBL):c.1593G>A (p.Thr531=) rs760769176 0.00001
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser) rs144289137 0.00001
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln) rs757394370 0.00001
NM_133433.4(NIPBL):c.3102A>G (p.Lys1034=) rs765887558 0.00001
NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp) rs376768802 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_133433.4(NIPBL):c.3487C>T (p.Pro1163Ser) rs761353689 0.00001
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=) rs143252734 0.00001
NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile) rs775077572 0.00001
NM_133433.4(NIPBL):c.7362C>T (p.Asp2454=) rs886060559 0.00001
NM_133433.4(NIPBL):c.7411-15G>A rs374348403 0.00001
NM_001281463.1(SMC1A):c.-275G>T rs1026058160
NM_005445.3(SMC3):c.-136A>G rs994198170
NM_005445.4(SMC3):c.*12T>A rs1861435243
NM_005445.4(SMC3):c.*298del rs886046697
NM_005445.4(SMC3):c.*36A>G rs1861435668
NM_005445.4(SMC3):c.*50C>G rs368890227
NM_005445.4(SMC3):c.*77C>T rs886046696
NM_005445.4(SMC3):c.-92G>T rs558632292
NM_005445.4(SMC3):c.-99C>A rs148267784
NM_005445.4(SMC3):c.1330G>A (p.Val444Ile) rs1861177028
NM_005445.4(SMC3):c.1419G>C (p.Trp473Cys) rs1861180589
NM_005445.4(SMC3):c.1558C>A (p.Arg520Ser) rs768778247
NM_005445.4(SMC3):c.1890T>A (p.Thr630=) rs79046607
NM_005445.4(SMC3):c.198+3G>A rs533706811
NM_005445.4(SMC3):c.2085G>A (p.Lys695=) rs886046694
NM_005445.4(SMC3):c.2268+13A>G rs755422141
NM_005445.4(SMC3):c.2406T>C (p.Asp802=) rs934660926
NM_005445.4(SMC3):c.2472T>C (p.Ile824=) rs1861369074
NM_005445.4(SMC3):c.2535+28del rs397847637
NM_005445.4(SMC3):c.2535+28dup rs397847637
NM_005445.4(SMC3):c.2892+9T>C rs1861393233
NM_005445.4(SMC3):c.3147T>C (p.Pro1049=) rs1861402400
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005445.4(SMC3):c.723+4A>T rs886046693
NM_005445.4(SMC3):c.724-6dup rs11380915
NM_005445.4(SMC3):c.929A>G (p.Lys310Arg) rs1861062802
NM_006265.3(RAD21):c.233_234del (p.Asp77_Cys78insTer) rs2130479407
NM_006265.3(RAD21):c.850G>A (p.Val284Ile) rs760261220
NM_006306.4(SMC1A):c.*1028C>T rs1057515967
NM_006306.4(SMC1A):c.*1240A>G rs1057515966
NM_006306.4(SMC1A):c.*1559G>A rs782736361
NM_006306.4(SMC1A):c.*1967C>T rs2075567451
NM_006306.4(SMC1A):c.*2490T>C rs1057515962
NM_006306.4(SMC1A):c.*2936C>T rs782494133
NM_006306.4(SMC1A):c.*3087G>A rs782024964
NM_006306.4(SMC1A):c.*3305A>G rs1057515960
NM_006306.4(SMC1A):c.*3392T>C rs2075561045
NM_006306.4(SMC1A):c.*3807G>A rs1057515958
NM_006306.4(SMC1A):c.*5051G>T rs2075555081
NM_006306.4(SMC1A):c.*5352C>T rs1057515953
NM_006306.4(SMC1A):c.*5443C>G rs375348750
NM_006306.4(SMC1A):c.*5506A>T rs2075553176
NM_006306.4(SMC1A):c.*5722A>T rs2075552232
NM_006306.4(SMC1A):c.*5853A>G rs2075551728
NM_006306.4(SMC1A):c.*5915T>C rs1057515951
NM_006306.4(SMC1A):c.*626A>G rs1057515970
NM_006306.4(SMC1A):c.*665A>G rs1057515969
NM_006306.4(SMC1A):c.*817ACAG[1] rs1057515968
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=) rs2075703211
NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe) rs2075687166
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=) rs2075686281
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=) rs186510389
NM_006306.4(SMC1A):c.3131-13T>G rs1273874101
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His) rs2075586377
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=) rs782763816
NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu) rs370671274
NM_018486.3(HDAC8):c.296-13T>G
NM_133433.4(NIPBL):c.*142G>C rs886060562
NM_133433.4(NIPBL):c.*265_*266del rs886060563
NM_133433.4(NIPBL):c.*282_*285del rs535770794
NM_133433.4(NIPBL):c.*354T>C rs1755262500
NM_133433.4(NIPBL):c.*460del rs768908921
NM_133433.4(NIPBL):c.*742_*743del rs886060567
NM_133433.4(NIPBL):c.*84dup rs587783876
NM_133433.4(NIPBL):c.-153dup rs567891305
NM_133433.4(NIPBL):c.-338C>T rs886060556
NM_133433.4(NIPBL):c.-416dup rs886060553
NM_133433.4(NIPBL):c.-424T>C rs886060552
NM_133433.4(NIPBL):c.-428G>C rs886060551
NM_133433.4(NIPBL):c.-429del rs376839773
NM_133433.4(NIPBL):c.-80+11G>C rs1257470313
NM_133433.4(NIPBL):c.1058A>G (p.Lys353Arg) rs1743395526
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu) rs80358365
NM_133433.4(NIPBL):c.2864A>C (p.Asn955Thr) rs1744758389
NM_133433.4(NIPBL):c.3949A>G (p.Ile1317Val) rs1747443386
NM_133433.4(NIPBL):c.407G>A (p.Ser136Asn) rs1741623090
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln) rs886060558
NM_133433.4(NIPBL):c.5710-13C>T rs562131143
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=) rs761030463
NM_133433.4(NIPBL):c.6369A>T (p.Gln2123His) rs369295272
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133433.4(NIPBL):c.7465G>A (p.Glu2489Lys) rs1561224805
NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu) rs886060560
NM_133433.4(NIPBL):c.8236G>A (p.Gly2746Ser) rs886060561
NM_133433.4(NIPBL):c.873A>C (p.Ser291=) rs1743370604

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