ClinVar Miner

List of variants reported as likely benign 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: 82
Download table as spreadsheet
HGVS dbSNP
NM_005445.3(SMC3):c.*158G>A rs183542538
NM_005445.3(SMC3):c.*297T>A rs188322637
NM_005445.3(SMC3):c.*329C>T rs182524436
NM_005445.3(SMC3):c.*332A>G rs117538515
NM_005445.3(SMC3):c.-130G>A rs559499419
NM_005445.3(SMC3):c.-135G>A rs17127559
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.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.2329T>C (p.Leu777=) rs76625999
NM_005445.3(SMC3):c.2535+15T>G rs3818903
NM_005445.3(SMC3):c.255A>G (p.Ser85=) rs146433240
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.548-5_548-4dup rs199906378
NM_006306.3(SMC1A):c.*1239T>C rs782502306
NM_006306.3(SMC1A):c.*14C>T rs112727682
NM_006306.3(SMC1A):c.*2423G>A rs147324052
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.*2856A>T rs148128199
NM_006306.3(SMC1A):c.*2948G>T rs183355603
NM_006306.3(SMC1A):c.*2973C>T rs56110615
NM_006306.3(SMC1A):c.*3421G>T rs41304780
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.*41G>A rs782548345
NM_006306.3(SMC1A):c.*4645T>C rs150365487
NM_006306.3(SMC1A):c.*4952_*4953delAC rs782700101
NM_006306.3(SMC1A):c.*5016T>C rs17002602
NM_006306.3(SMC1A):c.*5197T>C rs782050365
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.*703G>T rs189126241
NM_006306.3(SMC1A):c.*96C>T rs139317060
NM_006306.3(SMC1A):c.1173G>A (p.Gln391=) rs147952638
NM_006306.3(SMC1A):c.1254+11G>C rs144354524
NM_006306.3(SMC1A):c.2197-5T>C rs2297104
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.*282_*285del rs535770794
NM_133433.4(NIPBL):c.*334G>A rs181989563
NM_133433.4(NIPBL):c.*84dup rs587783876
NM_133433.4(NIPBL):c.-243A>C rs544681871
NM_133433.4(NIPBL):c.-307C>T rs377354585
NM_133433.4(NIPBL):c.-312T>A rs540966156
NM_133433.4(NIPBL):c.-429del rs376839773
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446
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.2294G>A (p.Arg765Lys) rs185678374
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756
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.3541A>C (p.Arg1181=) rs35748854
NM_133433.4(NIPBL):c.4240-14T>G rs298972
NM_133433.4(NIPBL):c.4320+14A>G rs377381536
NM_133433.4(NIPBL):c.4421+7A>G rs76297333
NM_133433.4(NIPBL):c.4561-9T>A rs79924167
NM_133433.4(NIPBL):c.4776+12G>A rs199632698
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.6109-3T>C rs145778995
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.