ClinVar Miner

List of variants studied for Cornelia de Lange syndrome by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP
NC_000005.9:g.(?_36877266)_(37065014_?)del
NC_000005.9:g.(?_37044429)_(37049423_?)del
NC_000023.10:g.(?_53349615)_(53410174_?)dup
NC_000023.10:g.(?_53430478)_(53432101_?)del
NC_000023.10:g.(?_71681834)_(71715138_?)dup
NM_005445.3(SMC3):c.1092-8T>G rs79912955
NM_005445.3(SMC3):c.125T>C (p.Phe42Ser) rs1554881901
NM_005445.3(SMC3):c.1365T>C (p.Tyr455=) rs75323904
NM_005445.3(SMC3):c.1451C>G (p.Ala484Gly) rs758758728
NM_005445.3(SMC3):c.1925T>C (p.Leu642Pro)
NM_005445.3(SMC3):c.2329T>C (p.Leu777=) rs76625999
NM_005445.3(SMC3):c.2644+6T>A rs201281088
NM_005445.3(SMC3):c.3400T>C (p.Cys1134Arg) rs1554884207
NM_005445.3(SMC3):c.424G>A (p.Gly142Arg) rs1554882316
NM_005445.3(SMC3):c.548-5_548-4dup rs199906378
NM_005445.3(SMC3):c.661C>T (p.Arg221Ter) rs1564789897
NM_006265.2(RAD21):c.1065G>A (p.Pro355=) rs202233096
NM_006265.2(RAD21):c.145-4A>G rs752213732
NM_006265.2(RAD21):c.1515C>G (p.Pro505=) rs9297560
NM_006265.2(RAD21):c.1576G>C (p.Glu526Gln) rs373026310
NM_006265.2(RAD21):c.1848G>A (p.Pro616=) rs761965871
NM_006265.2(RAD21):c.786C>T (p.Asp262=) rs34653007
NM_006306.3(SMC1A):c.1098G>A (p.Thr366=) rs140585416
NM_006306.3(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.3(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.3(SMC1A):c.1254+5G>A rs1569358589
NM_006306.3(SMC1A):c.1299del (p.Lys433fs)
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.1847C>T (p.Ala616Val)
NM_006306.3(SMC1A):c.1872T>G (p.Asp624Glu)
NM_006306.3(SMC1A):c.1876C>T (p.Arg626Cys) rs1556889577
NM_006306.3(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.3(SMC1A):c.2197-5T>C rs2297104
NM_006306.3(SMC1A):c.227A>G (p.Asn76Ser)
NM_006306.3(SMC1A):c.2314-2A>G
NM_006306.3(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.3(SMC1A):c.2369G>A (p.Arg790Gln) rs797045993
NM_006306.3(SMC1A):c.2420+5G>A rs1556889217
NM_006306.3(SMC1A):c.2446C>T (p.Arg816Cys) rs1556888586
NM_006306.3(SMC1A):c.261_272del (p.Glu87_Glu90del) rs1569359505
NM_006306.3(SMC1A):c.2708A>G (p.Lys903Arg) rs1569355072
NM_006306.3(SMC1A):c.2709-4T>A
NM_006306.3(SMC1A):c.2738C>T (p.Thr913Ile) rs1569355048
NM_006306.3(SMC1A):c.2792A>G (p.Gln931Arg)
NM_006306.3(SMC1A):c.2824C>T (p.Leu942=) rs139654605
NM_006306.3(SMC1A):c.2872dup (p.Gln958fs)
NM_006306.3(SMC1A):c.2950G>A (p.Gly984Ser) rs782381563
NM_006306.3(SMC1A):c.2977G>T (p.Ala993Ser)
NM_006306.3(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs) rs1556886127
NM_006306.3(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.3(SMC1A):c.3151C>T (p.Arg1051Ter) rs1569351907
NM_006306.3(SMC1A):c.3186C>G (p.Ile1062Met)
NM_006306.3(SMC1A):c.3197G>A (p.Arg1066His) rs1556886034
NM_006306.3(SMC1A):c.3235A>G (p.Thr1079Ala)
NM_006306.3(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.3(SMC1A):c.3390C>T (p.Gly1130=)
NM_006306.3(SMC1A):c.3450C>T (p.Ala1150=) rs142611198
NM_006306.3(SMC1A):c.3461T>A (p.Val1154Asp) rs1569351534
NM_006306.3(SMC1A):c.3507+3G>A rs1556885809
NM_006306.3(SMC1A):c.3591C>T (p.Ala1197=) rs146216425
NM_006306.3(SMC1A):c.3592G>C (p.Glu1198Gln) rs782175064
NM_006306.3(SMC1A):c.3611A>T (p.Tyr1204Phe)
NM_006306.3(SMC1A):c.3618+7C>T rs782267492
NM_006306.3(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del) rs1569351341
NM_006306.3(SMC1A):c.3663C>T (p.Thr1221=) rs28997583
NM_006306.3(SMC1A):c.412-10C>T rs149219651
NM_006306.3(SMC1A):c.494C>T (p.Ala165Val)
NM_006306.3(SMC1A):c.587G>A (p.Arg196His) rs1556890815
NM_006306.3(SMC1A):c.63C>T (p.Ile21=) rs781999328
NM_006306.3(SMC1A):c.699G>A (p.Val233=) rs145319852
NM_006306.3(SMC1A):c.859_861del (p.Lys287del) rs1556890626
NM_006306.3(SMC1A):c.920A>G (p.His307Arg) rs1556890616
NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser) rs1555949010
NM_018486.3(HDAC8):c.1112-2A>G rs1131690790
NM_018486.3(HDAC8):c.737+3A>G rs1569338413
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_133433.4(NIPBL):c.1145del (p.Asn382fs) rs1554015145
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly) rs894352601
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1451C>G (p.Ser484Ter) rs1561102868
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met) rs574981584
NM_133433.4(NIPBL):c.169del (p.Arg57fs) rs1554011046
NM_133433.4(NIPBL):c.1956dup (p.Gln653fs) rs1554017175
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.2120del (p.Gly707fs)
NM_133433.4(NIPBL):c.230+5G>A
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.2595dup (p.Leu866fs) rs1554017441
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met) rs1561119475
NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter) rs1554019667
NM_133433.4(NIPBL):c.3248del (p.Pro1083fs) rs1554019698
NM_133433.4(NIPBL):c.3253del (p.Tyr1085fs)
NM_133433.4(NIPBL):c.3304+1G>A rs1554019712
NM_133433.4(NIPBL):c.3455C>G (p.Ser1152Ter)
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe) rs540365485
NM_133433.4(NIPBL):c.358+3G>C
NM_133433.4(NIPBL):c.3855+1G>A
NM_133433.4(NIPBL):c.3895del (p.Ile1300fs)
NM_133433.4(NIPBL):c.3988G>T (p.Glu1330Ter) rs1561145912
NM_133433.4(NIPBL):c.4203A>G (p.Leu1401=) rs1356246775
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.4550C>G (p.Ser1517Ter)
NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter) rs587783952
NM_133433.4(NIPBL):c.4686del (p.Phe1562fs) rs1554023967
NM_133433.4(NIPBL):c.5011-1G>C rs1561169166
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5374G>C (p.Ala1792Pro) rs1554025675
NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe) rs1554030218
NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn) rs1554030233
NM_133433.4(NIPBL):c.6086_6087insT (p.Tyr2030fs) rs1554030285
NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln)
NM_133433.4(NIPBL):c.64+1G>A rs587784009
NM_133433.4(NIPBL):c.64+6T>A rs1554010766
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp)
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6589+5G>A rs1554032266
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met)
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.6796G>T (p.Glu2266Ter) rs1554032954
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys) rs80358376
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.6998del (p.Ala2333fs) rs1561214997
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) rs398124471
NM_133433.4(NIPBL):c.7263+3A>G rs1554033589
NM_133433.4(NIPBL):c.7410+4A>G rs1561222738
NM_133433.4(NIPBL):c.7702del (p.Ser2568fs) rs1554035266
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) rs1554035311
NM_133433.4(NIPBL):c.86del (p.Pro29fs) rs587784060
Single allele

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