ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome 3 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.*304T>G rs755315364 0.00035
NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln) rs201162818 0.00013
NM_005445.4(SMC3):c.-115T>C rs886046691 0.00006
NM_005445.4(SMC3):c.2589A>G (p.Thr863=) rs768482776 0.00003
NM_005445.4(SMC3):c.*327G>C rs1030439322 0.00002
NM_005445.4(SMC3):c.-65T>A rs886046692 0.00002
NM_005445.4(SMC3):c.369C>T (p.Asn123=) rs779773957 0.00002
NM_005445.4(SMC3):c.*228C>T rs1486030712 0.00001
NM_005445.4(SMC3):c.-90G>A rs1333533101 0.00001
NM_005445.4(SMC3):c.1998G>C (p.Gly666=) rs142669130 0.00001
NM_005445.4(SMC3):c.2163C>T (p.Ile721=) rs1193209124 0.00001
NM_005445.4(SMC3):c.2645-8C>T rs886046695 0.00001
NM_005445.3(SMC3):c.-136A>G rs994198170
NM_005445.4(SMC3):c.*12T>A rs1861435243
NM_005445.4(SMC3):c.*36A>G rs1861435668
NM_005445.4(SMC3):c.*50C>G rs368890227
NM_005445.4(SMC3):c.*77C>T rs886046696
NM_005445.4(SMC3):c.1330G>A (p.Val444Ile) rs1861177028
NM_005445.4(SMC3):c.1558C>A (p.Arg520Ser) rs768778247
NM_005445.4(SMC3):c.2085G>A (p.Lys695=) rs886046694
NM_005445.4(SMC3):c.2406T>C (p.Asp802=) rs934660926
NM_005445.4(SMC3):c.2472T>C (p.Ile824=) rs1861369074
NM_005445.4(SMC3):c.2892+9T>C rs1861393233
NM_005445.4(SMC3):c.3147T>C (p.Pro1049=) rs1861402400
NM_005445.4(SMC3):c.723+4A>T rs886046693
NM_005445.4(SMC3):c.929A>G (p.Lys310Arg) rs1861062802

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