ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome 3 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.2707C>T (p.Arg903Cys) rs766348585 0.00005
NM_005445.4(SMC3):c.351-4A>G rs373545953 0.00003
NM_005445.4(SMC3):c.547+6A>G rs1166243518 0.00003
NM_005445.4(SMC3):c.2427+6T>C rs779451107 0.00002
NM_005445.4(SMC3):c.2498A>G (p.Asn833Ser) rs777828072 0.00002
NM_005445.4(SMC3):c.993G>C (p.Gln331His) rs369244486 0.00002
NM_005445.4(SMC3):c.1509+4G>C rs572340845 0.00001
NM_005445.4(SMC3):c.1538A>G (p.Asn513Ser) rs190230933 0.00001
NM_005445.4(SMC3):c.2102G>A (p.Arg701His) rs371216768 0.00001
NM_005445.4(SMC3):c.2567G>C (p.Gly856Ala) rs745863058 0.00001
NM_005445.4(SMC3):c.2651A>G (p.Asp884Gly) rs1861388870 0.00001
NM_005445.4(SMC3):c.2892+3T>A rs910261729 0.00001
NM_005445.4(SMC3):c.3168G>A (p.Val1056=) rs757574487 0.00001
NM_005445.4(SMC3):c.429+9A>G rs1395433925 0.00001
NM_005445.4(SMC3):c.430-3T>C rs908094253 0.00001
NC_000010.10:g.(?_111860412)_(112839579_?)dup
NM_005445.4(SMC3):c.1037A>G (p.Glu346Gly) rs2493116671
NM_005445.4(SMC3):c.1170A>C (p.Glu390Asp)
NM_005445.4(SMC3):c.1229A>G (p.Lys410Arg) rs2493117713
NM_005445.4(SMC3):c.125T>C (p.Phe42Ser) rs1554881901
NM_005445.4(SMC3):c.131-3C>T rs1248040386
NM_005445.4(SMC3):c.1324A>G (p.Asn442Asp)
NM_005445.4(SMC3):c.1410-11_1410-6del rs2493126252
NM_005445.4(SMC3):c.1445C>A (p.Ala482Glu) rs752993226
NM_005445.4(SMC3):c.1451C>G (p.Ala484Gly) rs758758728
NM_005445.4(SMC3):c.15+5_15+12del rs776856186
NM_005445.4(SMC3):c.1509+5G>C rs745960768
NM_005445.4(SMC3):c.1558C>A (p.Arg520Ser) rs768778247
NM_005445.4(SMC3):c.1558C>T (p.Arg520Cys)
NM_005445.4(SMC3):c.1559G>A (p.Arg520His)
NM_005445.4(SMC3):c.1772A>C (p.Asn591Thr) rs1861198238
NM_005445.4(SMC3):c.1783G>A (p.Val595Ile) rs889672664
NM_005445.4(SMC3):c.1799A>G (p.Tyr600Cys) rs780811321
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp) rs866273473
NM_005445.4(SMC3):c.2024G>A (p.Arg675Gln) rs2134745310
NM_005445.4(SMC3):c.2036A>G (p.Gln679Arg)
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del) rs755507236
NM_005445.4(SMC3):c.2099T>C (p.Leu700Pro) rs2134745404
NM_005445.4(SMC3):c.2116+20A>G
NM_005445.4(SMC3):c.2213A>C (p.Glu738Ala) rs2134747764
NM_005445.4(SMC3):c.2264C>G (p.Pro755Arg)
NM_005445.4(SMC3):c.2268+5G>C rs530162037
NM_005445.4(SMC3):c.2273G>A (p.Arg758His) rs2493143821
NM_005445.4(SMC3):c.2289G>A (p.Leu763=)
NM_005445.4(SMC3):c.2558C>G (p.Thr853Arg) rs2493146432
NM_005445.4(SMC3):c.2573T>C (p.Val858Ala)
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro) rs797045996
NM_005445.4(SMC3):c.263G>A (p.Arg88Gln) rs2493105845
NM_005445.4(SMC3):c.2708G>T (p.Arg903Leu)
NM_005445.4(SMC3):c.2739T>G (p.Asp913Glu) rs1199451717
NM_005445.4(SMC3):c.2782C>T (p.Arg928Trp) rs202034783
NM_005445.4(SMC3):c.2950A>C (p.Lys984Gln)
NM_005445.4(SMC3):c.3035A>G (p.Lys1012Arg)
NM_005445.4(SMC3):c.3076T>C (p.Tyr1026His)
NM_005445.4(SMC3):c.3105+3A>T rs745657228
NM_005445.4(SMC3):c.310G>T (p.Ala104Ser)
NM_005445.4(SMC3):c.3149G>A (p.Gly1050Asp)
NM_005445.4(SMC3):c.3183T>A (p.Asp1061Glu) rs2493149351
NM_005445.4(SMC3):c.3212_3214del (p.Gly1071del) rs773760564
NM_005445.4(SMC3):c.3231T>A (p.Ser1077Arg) rs1861403415
NM_005445.4(SMC3):c.3254G>C (p.Ser1085Thr)
NM_005445.4(SMC3):c.3263C>G (p.Pro1088Arg) rs765693201
NM_005445.4(SMC3):c.3376G>T (p.Ala1126Ser)
NM_005445.4(SMC3):c.3400T>C (p.Cys1134Arg) rs1554884207
NM_005445.4(SMC3):c.3407C>T (p.Pro1136Leu)
NM_005445.4(SMC3):c.3469G>C (p.Val1157Leu) rs2493150119
NM_005445.4(SMC3):c.3488A>G (p.Glu1163Gly) rs1861413861
NM_005445.4(SMC3):c.350C>T (p.Thr117Met)
NM_005445.4(SMC3):c.3520A>G (p.Thr1174Ala) rs2493150651
NM_005445.4(SMC3):c.3530C>G (p.Pro1177Arg) rs1314905542
NM_005445.4(SMC3):c.386G>T (p.Gly129Val) rs2493107856
NM_005445.4(SMC3):c.424G>A (p.Gly142Arg) rs1554882316
NM_005445.4(SMC3):c.429+16G>T rs770985297
NM_005445.4(SMC3):c.440T>C (p.Met147Thr)
NM_005445.4(SMC3):c.538A>C (p.Lys180Gln) rs2493111137
NM_005445.4(SMC3):c.624A>C (p.Glu208Asp) rs367803262
NM_005445.4(SMC3):c.723+6A>G rs1360771140
NM_005445.4(SMC3):c.786T>A (p.Asp262Glu) rs1186869366
NM_005445.4(SMC3):c.8T>G (p.Ile3Arg) rs2493089056
NM_005445.4(SMC3):c.913T>G (p.Leu305Val) rs1349857900

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.