ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 2

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 102
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HGVS dbSNP
NC_000023.10:g.(?_53349615)_(53410174_?)dup
NC_000023.10:g.(?_53430478)_(53432101_?)del
NM_001281463.1(SMC1A):c.1233del (p.Lys411fs)
NM_001281463.1(SMC1A):c.195_206del (p.Glu65_Glu68del) rs1569359505
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
NM_001281463.1(SMC1A):c.2427_2429del (p.Asp809_Gln810delinsGlu)
NM_001281463.1(SMC1A):c.2481del (p.Ile827fs) rs797045069
NM_001281463.1(SMC1A):c.2787_2790del (p.Ser929fs) rs863225458
NM_001281463.1(SMC1A):c.2908-2A>G rs727503774
NM_001281463.1(SMC1A):c.3483_3486dup (p.Ile1163fs) rs863225459
NM_001281463.1(SMC1A):c.3586_3597del (p.Phe1196_Thr1199del) rs1569351341
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) rs587784422
NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del) rs727503773
NM_001281463.1(SMC1A):c.793_795del (p.Lys265del) rs1556890626
NM_006306.3(SMC1A):c.-1C>T rs797044618
NM_006306.3(SMC1A):c.1098G>A (p.Thr366=) rs140585416
NM_006306.3(SMC1A):c.110G>T (p.Gly37Val) rs1569359540
NM_006306.3(SMC1A):c.1114-2A>G rs1569358628
NM_006306.3(SMC1A):c.1136_1138AAG[2] (p.Glu381del) rs797045991
NM_006306.3(SMC1A):c.116C>G (p.Ser39Ter) rs1057518670
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.124A>G (p.Met42Val) rs1556891104
NM_006306.3(SMC1A):c.1254+11G>C rs144354524
NM_006306.3(SMC1A):c.1254+5G>A rs1569358589
NM_006306.3(SMC1A):c.1267C>A (p.Gln423Lys) rs587784404
NM_006306.3(SMC1A):c.128A>T (p.Asp43Val) rs1569359535
NM_006306.3(SMC1A):c.1323C>T (p.Tyr441=) rs144850468
NM_006306.3(SMC1A):c.1388_1389insC (p.Glu464fs) rs1057519398
NM_006306.3(SMC1A):c.140T>G (p.Phe47Cys) rs1569359530
NM_006306.3(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.3(SMC1A):c.1478A>C (p.Glu493Ala) rs122454122
NM_006306.3(SMC1A):c.1487G>A (p.Arg496His) rs122454123
NM_006306.3(SMC1A):c.1545+4A>C rs377270943
NM_006306.3(SMC1A):c.1698G>A (p.Glu566=) rs7052858
NM_006306.3(SMC1A):c.1754T>C (p.Leu585Pro) rs587784406
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.2035G>T (p.Glu679Ter) rs1569356968
NM_006306.3(SMC1A):c.2046_2048del (p.Glu684del) rs797045992
NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.3(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_006306.3(SMC1A):c.227A>G (p.Asn76Ser)
NM_006306.3(SMC1A):c.2314-2A>G
NM_006306.3(SMC1A):c.2327T>A (p.Val776Glu) rs587784410
NM_006306.3(SMC1A):c.2350A>G (p.Ile784Val) rs587784411
NM_006306.3(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
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.2394dup (p.Arg799fs) rs1569356555
NM_006306.3(SMC1A):c.2420+5G>A rs1556889217
NM_006306.3(SMC1A):c.2420G>A (p.Arg807His) rs1569356550
NM_006306.3(SMC1A):c.2446C>T (p.Arg816Cys) rs1556888586
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.285C>G (p.Ala95=) rs587784414
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.298G>C (p.Gly100Arg) rs1569359487
NM_006306.3(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs) rs1556886127
NM_006306.3(SMC1A):c.3070A>T (p.Asn1024Tyr) rs587784415
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.3252C>T (p.Ile1084=) rs587784417
NM_006306.3(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.3(SMC1A):c.3290T>A (p.Phe1097Tyr) rs1131692271
NM_006306.3(SMC1A):c.3373A>G (p.Met1125Val) rs1057519499
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.3468T>G (p.Asp1156Glu) rs1556885815
NM_006306.3(SMC1A):c.3507+3G>A rs1556885809
NM_006306.3(SMC1A):c.3557T>C (p.Val1186Ala) rs587784419
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.3663C>T (p.Thr1221=) rs28997583
NM_006306.3(SMC1A):c.412-10C>T rs149219651
NM_006306.3(SMC1A):c.421G>A (p.Glu141Lys) rs587784420
NM_006306.3(SMC1A):c.494C>T (p.Ala165Val)
NM_006306.3(SMC1A):c.547C>T (p.Gln183Ter) rs587784421
NM_006306.3(SMC1A):c.587G>A (p.Arg196His) rs1556890815
NM_006306.3(SMC1A):c.616-2A>G rs587784423
NM_006306.3(SMC1A):c.63C>T (p.Ile21=) rs781999328
NM_006306.3(SMC1A):c.655del (p.Ala219fs) rs1569359048
NM_006306.3(SMC1A):c.699G>A (p.Val233=) rs145319852
NM_006306.3(SMC1A):c.855-15C>T rs147791932
NM_006306.3(SMC1A):c.920A>G (p.His307Arg) rs1556890616
NM_006306.3(SMC1A):c.95G>A (p.Gly32Glu) rs1556892359
SMC1A, 15-BP DEL, NT173
SMC1A, 8.152-KB DEL

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