ClinVar Miner

List of variants reported as likely benign 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: 57
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
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_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_006306.4(SMC1A):c.*5380G>A rs186354950 0.00739
NM_006306.4(SMC1A):c.*4645T>C rs150365487 0.00678
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_006306.4(SMC1A):c.*4952_*4953del rs782700101 0.00325
NM_133433.4(NIPBL):c.-312T>A rs540966156 0.00284
NM_005445.4(SMC3):c.-74C>A rs376252081 0.00122
NM_005445.4(SMC3):c.276T>C (p.Asp92=) rs199936534 0.00073
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_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_133433.4(NIPBL):c.5709+4G>A rs370325589 0.00050
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_133433.4(NIPBL):c.5011-13A>G rs13177643 0.00038
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
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_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=) rs116049172 0.00019
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.6645A>G (p.Leu2215=) rs149186951 0.00013
NM_005445.4(SMC3):c.2782C>A (p.Arg928=) rs202034783 0.00011
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_006306.4(SMC1A):c.*2540C>G rs182535846 0.00007
NM_006306.4(SMC1A):c.*2589A>G rs782291666 0.00007
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_005445.4(SMC3):c.2268+4C>T rs587784426 0.00004
NM_005445.3(SMC3):c.-135G>A rs17127559 0.00003
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=) rs371566938 0.00003
NM_005445.3(SMC3):c.-130G>A rs559499419 0.00002
NM_005445.4(SMC3):c.2656T>G (p.Ser886Ala) rs775665831 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.3321T>C (p.Gly1107=) rs184870066 0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 0.00001
NM_005445.4(SMC3):c.1890T>A (p.Thr630=) rs79046607
NM_005445.4(SMC3):c.198+3G>A rs533706811
NM_005445.4(SMC3):c.2268+13A>G rs755422141
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_006306.4(SMC1A):c.*3087G>A rs782024964
NM_133433.4(NIPBL):c.*282_*285del rs535770794
NM_133433.4(NIPBL):c.*84dup rs587783876
NM_133433.4(NIPBL):c.-429del rs376839773
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.4321-15A>G rs587783946

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