ClinVar Miner

List of variants reported as 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: 62
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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.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_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.*2389G>T rs114329529 0.00775
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_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.6109-3T>C rs145778995 0.00354
NM_005445.4(SMC3):c.*332A>G rs117538515 0.00334
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.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_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
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.*5444G>A rs181871602 0.00055
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=) rs145952190 0.00051
NM_005445.4(SMC3):c.2535+15T>G rs3818903 0.00040
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.1173G>A (p.Gln391=) rs147952638 0.00019
NM_006306.4(SMC1A):c.*2856A>T rs148128199 0.00018
NM_133433.4(NIPBL):c.-307C>T rs377354585 0.00013
NM_005445.4(SMC3):c.198+7G>A rs765985488 0.00003
NM_005445.4(SMC3):c.1671-4T>C rs201392611 0.00001
NM_006306.4(SMC1A):c.*931A>G rs782237045 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_005445.4(SMC3):c.-92G>T rs558632292
NM_005445.4(SMC3):c.-99C>A rs148267784
NM_005445.4(SMC3):c.2535+28del rs397847637
NM_005445.4(SMC3):c.724-6dup rs11380915
NM_133433.4(NIPBL):c.5710-13C>T rs562131143

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