ClinVar Miner

List of variants reported as benign for Cornelia de Lange syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
NM_005445.3(SMC3):c.1092-8T>G rs79912955
NM_005445.3(SMC3):c.1365T>C (p.Tyr455=) rs75323904
NM_005445.3(SMC3):c.2329T>C (p.Leu777=) rs76625999
NM_005445.3(SMC3):c.2535+28del rs397847637
NM_005445.3(SMC3):c.2644+6T>A rs201281088
NM_005445.3(SMC3):c.3039A>G (p.Ser1013=) rs2419565
NM_005445.3(SMC3):c.351-9T>C rs78663177
NM_005445.3(SMC3):c.548-5_548-4dup rs199906378
NM_005445.3(SMC3):c.724-6dup rs11380915
NM_005445.3(SMC3):c.970-8G>A rs11195199
NM_006265.2(RAD21):c.1515C>G (p.Pro505=) rs9297560
NM_006265.2(RAD21):c.786C>T (p.Asp262=) rs34653007
NM_006306.3(SMC1A):c.-19C>T rs1264011
NM_006306.3(SMC1A):c.1323C>T (p.Tyr441=) rs144850468
NM_006306.3(SMC1A):c.1545+4A>C rs377270943
NM_006306.3(SMC1A):c.1698G>A (p.Glu566=) rs7052858
NM_006306.3(SMC1A):c.2824C>T (p.Leu942=) rs139654605
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_006306.3(SMC1A):c.699G>A (p.Val233=) rs145319852
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.2469A>G (p.Lys823=) rs293756
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200
NM_133433.4(NIPBL):c.6109-3T>C rs145778995

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