ClinVar Miner

List of variants reported as 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: 8
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HGVS dbSNP
NM_005445.3(SMC3):c.2535+28delT rs397847637
NM_005445.3(SMC3):c.3039A>G (p.Ser1013=) rs2419565
NM_005445.3(SMC3):c.351-9T>C rs78663177
NM_005445.3(SMC3):c.724-6dup rs11380915
NM_005445.3(SMC3):c.970-8G>A rs11195199
NM_006306.3(SMC1A):c.-19C>T rs1264011
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200

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