ClinVar Miner

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

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 164
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HGVS dbSNP
NM_001281463.1(SMC1A):c.*4952_*4953del rs782700101
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
NM_005445.3(SMC3):c.*158G>A rs183542538
NM_005445.3(SMC3):c.*17A>G rs199611616
NM_005445.3(SMC3):c.*297T>A rs188322637
NM_005445.3(SMC3):c.*298del rs886046697
NM_005445.3(SMC3):c.*329C>T rs182524436
NM_005445.3(SMC3):c.*332A>G rs117538515
NM_005445.3(SMC3):c.*77C>T rs886046696
NM_005445.3(SMC3):c.-115T>C rs886046691
NM_005445.3(SMC3):c.-130G>A rs559499419
NM_005445.3(SMC3):c.-135G>A rs17127559
NM_005445.3(SMC3):c.-65T>A rs886046692
NM_005445.3(SMC3):c.-74C>A rs376252081
NM_005445.3(SMC3):c.-92G>T rs558632292
NM_005445.3(SMC3):c.-99C>A rs148267784
NM_005445.3(SMC3):c.1092-8T>G rs79912955
NM_005445.3(SMC3):c.1280A>G (p.Lys427Arg) rs142524280
NM_005445.3(SMC3):c.1365T>C (p.Tyr455=) rs75323904
NM_005445.3(SMC3):c.1558C>A (p.Arg520Ser) rs768778247
NM_005445.3(SMC3):c.1670+6_1670+7insAAC rs766155607
NM_005445.3(SMC3):c.1671-4T>C rs201392611
NM_005445.3(SMC3):c.1671-6A>G rs200848781
NM_005445.3(SMC3):c.2007T>C (p.Tyr669=) rs147404470
NM_005445.3(SMC3):c.2062G>C (p.Glu688Gln) rs201162818
NM_005445.3(SMC3):c.2085G>A (p.Lys695=) rs886046694
NM_005445.3(SMC3):c.2268+13A>G rs755422141
NM_005445.3(SMC3):c.2329T>C (p.Leu777=) rs76625999
NM_005445.3(SMC3):c.2535+15T>G rs3818903
NM_005445.3(SMC3):c.2535+28del rs397847637
NM_005445.3(SMC3):c.2535+28dup rs397847637
NM_005445.3(SMC3):c.255A>G (p.Ser85=) rs146433240
NM_005445.3(SMC3):c.2645-8C>T rs886046695
NM_005445.3(SMC3):c.276T>C (p.Asp92=) rs199936534
NM_005445.3(SMC3):c.2934G>A (p.Lys978=) rs147463420
NM_005445.3(SMC3):c.3039A>G (p.Ser1013=) rs2419565
NM_005445.3(SMC3):c.3259G>A (p.Val1087Ile) rs147743879
NM_005445.3(SMC3):c.351-9T>C rs78663177
NM_005445.3(SMC3):c.369C>T (p.Asn123=) rs779773957
NM_005445.3(SMC3):c.548-5_548-4dup rs199906378
NM_005445.3(SMC3):c.723+4A>T rs886046693
NM_005445.3(SMC3):c.724-6dup rs11380915
NM_005445.3(SMC3):c.970-14T>C rs200511874
NM_005445.3(SMC3):c.970-8G>A rs11195199
NM_006306.3(SMC1A):c.*1028C>T rs1057515967
NM_006306.3(SMC1A):c.*1239T>C rs782502306
NM_006306.3(SMC1A):c.*1240A>G rs1057515966
NM_006306.3(SMC1A):c.*14C>T rs112727682
NM_006306.3(SMC1A):c.*1559G>A rs782736361
NM_006306.3(SMC1A):c.*1961C>T rs986586627
NM_006306.3(SMC1A):c.*2050T>C rs1057515964
NM_006306.3(SMC1A):c.*2225G>A rs1047323522
NM_006306.3(SMC1A):c.*2423G>A rs147324052
NM_006306.3(SMC1A):c.*2435T>G rs782650092
NM_006306.3(SMC1A):c.*2490T>C rs1057515962
NM_006306.3(SMC1A):c.*2540C>G rs182535846
NM_006306.3(SMC1A):c.*2589A>G rs782291666
NM_006306.3(SMC1A):c.*2609A>C rs192734396
NM_006306.3(SMC1A):c.*2663C>T rs1057515961
NM_006306.3(SMC1A):c.*2856A>T rs148128199
NM_006306.3(SMC1A):c.*2948G>T rs183355603
NM_006306.3(SMC1A):c.*2973C>T rs56110615
NM_006306.3(SMC1A):c.*3305A>G rs1057515960
NM_006306.3(SMC1A):c.*3421G>T rs41304780
NM_006306.3(SMC1A):c.*348C>T rs782700234
NM_006306.3(SMC1A):c.*3671C>T rs1057515959
NM_006306.3(SMC1A):c.*3777C>G rs41315082
NM_006306.3(SMC1A):c.*3807G>A rs1057515958
NM_006306.3(SMC1A):c.*381A>G rs184957599
NM_006306.3(SMC1A):c.*3838G>A rs144702614
NM_006306.3(SMC1A):c.*3851A>T rs782817464
NM_006306.3(SMC1A):c.*4087G>A rs1057515957
NM_006306.3(SMC1A):c.*41G>A rs782548345
NM_006306.3(SMC1A):c.*4382A>G rs906340789
NM_006306.3(SMC1A):c.*4443G>A rs782630117
NM_006306.3(SMC1A):c.*4581T>C rs1057515955
NM_006306.3(SMC1A):c.*4645T>C rs150365487
NM_006306.3(SMC1A):c.*5016T>C rs17002602
NM_006306.3(SMC1A):c.*5197T>C rs782050365
NM_006306.3(SMC1A):c.*5352C>T rs1057515953
NM_006306.3(SMC1A):c.*5355G>A rs782143840
NM_006306.3(SMC1A):c.*5380G>A rs186354950
NM_006306.3(SMC1A):c.*5444G>A rs181871602
NM_006306.3(SMC1A):c.*5481G>A rs147896900
NM_006306.3(SMC1A):c.*5692G>A rs1057515952
NM_006306.3(SMC1A):c.*5915T>C rs1057515951
NM_006306.3(SMC1A):c.*626A>G rs1057515970
NM_006306.3(SMC1A):c.*665A>G rs1057515969
NM_006306.3(SMC1A):c.*703G>T rs189126241
NM_006306.3(SMC1A):c.*821_*824delACAG rs1057515968
NM_006306.3(SMC1A):c.*96C>T rs139317060
NM_006306.3(SMC1A):c.-19C>T rs1264011
NM_006306.3(SMC1A):c.1173G>A (p.Gln391=) rs147952638
NM_006306.3(SMC1A):c.1254+11G>C rs144354524
NM_006306.3(SMC1A):c.3450C>T (p.Ala1150=) rs142611198
NM_006306.3(SMC1A):c.3591C>T (p.Ala1197=) rs146216425
NM_006306.3(SMC1A):c.412-10C>T rs149219651
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.*334G>A rs181989563
NM_133433.4(NIPBL):c.*460del rs768908921
NM_133433.4(NIPBL):c.*545A>G rs886060566
NM_133433.4(NIPBL):c.*551G>C rs760747084
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.-243A>C rs544681871
NM_133433.4(NIPBL):c.-265A>G rs879291582
NM_133433.4(NIPBL):c.-307C>T rs377354585
NM_133433.4(NIPBL):c.-312T>A rs540966156
NM_133433.4(NIPBL):c.-338C>T rs886060556
NM_133433.4(NIPBL):c.-379G>A rs886060555
NM_133433.4(NIPBL):c.-410C>T rs886060554
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.1151A>G (p.Asn384Ser) rs2291703
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg) rs150837768
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser) rs144289137
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln) rs757394370
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=) rs371566938
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val) rs749926228
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.4(NIPBL):c.3121+11T>G rs457583
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836
NM_133433.4(NIPBL):c.3487C>T (p.Pro1163Ser) rs761353689
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854
NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=) rs373206831
NM_133433.4(NIPBL):c.4240-14T>G rs298972
NM_133433.4(NIPBL):c.4320+14A>G rs377381536
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) rs749296628
NM_133433.4(NIPBL):c.4421+7A>G rs76297333
NM_133433.4(NIPBL):c.4561-9T>A rs79924167
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys) rs780708835
NM_133433.4(NIPBL):c.4776+12G>A rs199632698
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln) rs886060558
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
NM_133433.4(NIPBL):c.5709+4G>A rs370325589
NM_133433.4(NIPBL):c.5710-13C>T rs562131143
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951
NM_133433.4(NIPBL):c.7362C>T (p.Asp2454=) rs886060559
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu) rs886060560
NM_133433.4(NIPBL):c.8236G>A (p.Gly2746Ser) rs886060561

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