ClinVar Miner

List of variants reported as pathogenic for Cornelia de Lange syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 523
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.2132G>A (p.Arg711Gln) rs782176647 0.00002
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) rs397515417 0.00001
NC_000005.10:g.(?_36877164)_(37064912_?)del
NC_000005.10:g.(?_36953616)_(37017182_?)del
NC_000005.10:g.(?_37038582)_(37038758_?)del
NC_000005.10:g.(?_37044327)_(37049321_?)del
NC_000005.9:g.(?_36953718)_(37027534_?)del
NC_000005.9:g.(?_36953799)_(37064994_?)del
NC_000005.9:g.(?_36958186)_(36962396_?)del
NC_000005.9:g.(?_36970958)_(37371079_?)del
NC_000005.9:g.(?_37002744)_(37008845_?)del
NC_000005.9:g.(?_37036461)_(37036609_?)del
NC_000008.11:g.(?_116857267)_(116863259_?)del
NC_000023.10:g.(?_53222149)_(55057617_?)del
NC_000023.10:g.(?_53430478)_(53432101_?)del
NC_000023.10:g.(?_53430478)_(53442138_?)del
NC_000023.10:g.(?_53435973)_(53442138_?)del
NC_000023.10:g.(?_53448825)_(53449569_?)del
NC_000023.10:g.(?_53449431)_(53449549_?)del
NC_000023.10:g.(?_71681834)_(71681968_?)del
NC_000023.10:g.71681853_72434328del752476
NIPBL, IVS44DS, A-G, +4
NM_001197104.2(KMT2A):c.2233C>T (p.Arg745Ter) rs727503777
NM_001379291.1(BRD4):c.4020+1G>A rs2145497734
NM_005445.4(SMC3):c.1071_1074del (p.Glu358fs) rs1590556722
NM_005445.4(SMC3):c.1138_1152del (p.Gly380_Gln384del) rs1861074646
NM_005445.4(SMC3):c.139T>C (p.Phe47Leu) rs863225258
NM_005445.4(SMC3):c.1461AGA[1] (p.Glu488del) rs863223279
NM_005445.4(SMC3):c.1462G>A (p.Glu488Lys) rs863225260
NM_005445.4(SMC3):c.1892T>C (p.Leu631Pro)
NM_005445.4(SMC3):c.1942A>G (p.Met648Val) rs886041239
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.4(SMC3):c.1997G>C (p.Gly666Ala) rs863225261
NM_005445.4(SMC3):c.2044G>A (p.Val682Ile) rs2134745322
NM_005445.4(SMC3):c.2536-5_2541del rs727503775
NM_005445.4(SMC3):c.2750A>C (p.His917Pro) rs797044861
NM_005445.4(SMC3):c.703_705del (p.Thr235del) rs863225259
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_006265.3(RAD21):c.1045dup (p.Thr349fs)
NM_006265.3(RAD21):c.1127C>G (p.Pro376Arg) rs387907212
NM_006265.3(RAD21):c.1161+1G>A rs1563689416
NM_006265.3(RAD21):c.1217_1224del (p.Lys406fs) rs1812376090
NM_006265.3(RAD21):c.1306C>T (p.Gln436Ter) rs1563688680
NM_006265.3(RAD21):c.1432C>T (p.Arg478Ter) rs748575266
NM_006265.3(RAD21):c.144+1G>A rs1586275911
NM_006265.3(RAD21):c.1548delinsTC (p.Glu518fs) rs1812331711
NM_006265.3(RAD21):c.1550dup (p.Glu518fs) rs1563687901
NM_006265.3(RAD21):c.1621-384_1704+199del
NM_006265.3(RAD21):c.1635del (p.Gly547fs)
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg) rs387907213
NM_006265.3(RAD21):c.1774_1776del (p.Gln592del) rs1563686762
NM_006265.3(RAD21):c.181_182dup (p.Gly62fs) rs1554612096
NM_006265.3(RAD21):c.1843G>T (p.Glu615Ter) rs1425483905
NM_006265.3(RAD21):c.193C>T (p.Arg65Ter)
NM_006265.3(RAD21):c.208A>T (p.Lys70Ter) rs1554612093
NM_006265.3(RAD21):c.3G>A (p.Met1Ile) rs1586276006
NM_006265.3(RAD21):c.466C>T (p.Gln156Ter) rs1812515682
NM_006265.3(RAD21):c.56_62del (p.Leu19fs) rs797045907
NM_006265.3(RAD21):c.579dup (p.Glu194fs) rs797045908
NM_006265.3(RAD21):c.589C>T (p.Gln197Ter) rs1352385210
NM_006265.3(RAD21):c.592_593dup (p.Ser198fs) rs797045909
NM_006265.3(RAD21):c.593dup (p.Ser198fs) rs2130469261
NM_006265.3(RAD21):c.683del (p.Ile228fs)
NM_006265.3(RAD21):c.704del (p.Ser235fs) rs1812478613
NM_006265.3(RAD21):c.85delinsCCT (p.Lys29fs) rs1812700165
NM_006265.3(RAD21):c.943_946del (p.Glu315fs) rs2130463115
NM_006306.4(SMC1A):c.109+575dup rs2075758478
NM_006306.4(SMC1A):c.10del (p.Phe3_Leu4insTer) rs2146614137
NM_006306.4(SMC1A):c.1114-2A>G rs1569358628
NM_006306.4(SMC1A):c.116C>G (p.Ser39Ter) rs1057518670
NM_006306.4(SMC1A):c.1171C>T (p.Gln391Ter) rs2146604602
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.4(SMC1A):c.1299del (p.Lys433fs) rs1602411858
NM_006306.4(SMC1A):c.1335C>T (p.Ser445=)
NM_006306.4(SMC1A):c.1388_1389insC (p.Glu464fs) rs1057519398
NM_006306.4(SMC1A):c.1447del (p.Gln483fs)
NM_006306.4(SMC1A):c.1478A>C (p.Glu493Ala) rs122454122
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys) rs2075701790
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His) rs122454123
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter) rs1556890135
NM_006306.4(SMC1A):c.157dup (p.Thr53fs) rs2075726992
NM_006306.4(SMC1A):c.1607A>G (p.Lys536Arg) rs2146600076
NM_006306.4(SMC1A):c.1717del (p.Asp574fs)
NM_006306.4(SMC1A):c.173_187del (p.Val58_Arg62del)
NM_006306.4(SMC1A):c.1785_1788del (p.Ile595fs) rs1602410239
NM_006306.4(SMC1A):c.1927G>T (p.Gly643Ter)
NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe) rs2075687166
NM_006306.4(SMC1A):c.1989_1995del (p.Arg664fs)
NM_006306.4(SMC1A):c.2035G>T (p.Glu679Ter) rs1569356968
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_006306.4(SMC1A):c.2132_2139del (p.Arg711fs) rs2146599324
NM_006306.4(SMC1A):c.2146C>T (p.Gln716Ter)
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter) rs2075685944
NM_006306.4(SMC1A):c.2173C>T (p.Arg725Ter) rs2146599304
NM_006306.4(SMC1A):c.2272C>T (p.Arg758Ter) rs1556889269
NM_006306.4(SMC1A):c.2341T>C (p.Cys781Arg) rs2146598316
NM_006306.4(SMC1A):c.2343T>A (p.Cys781Ter)
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln) rs797045993
NM_006306.4(SMC1A):c.2394dup (p.Arg799fs) rs1569356555
NM_006306.4(SMC1A):c.2398C>T (p.Gln800Ter) rs2146598241
NM_006306.4(SMC1A):c.2437C>T (p.Gln813Ter) rs2146595540
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu) rs1602407457
NM_006306.4(SMC1A):c.2514G>A (p.Trp838Ter)
NM_006306.4(SMC1A):c.2547del (p.Ile849fs) rs797045069
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter) rs1602405588
NM_006306.4(SMC1A):c.2842_2845dup (p.Asp949delinsGlyTer) rs2146593421
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.286C>T (p.Arg96Cys) rs2146606642
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs) rs1602404847
NM_006306.4(SMC1A):c.2890_2893del (p.Ser964fs)
NM_006306.4(SMC1A):c.2899C>T (p.Gln967Ter) rs2146592415
NM_006306.4(SMC1A):c.2923C>T (p.Arg975Ter) rs2146592407
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys) rs1556887759
NM_006306.4(SMC1A):c.2973+1G>A
NM_006306.4(SMC1A):c.2974-2A>G rs727503774
NM_006306.4(SMC1A):c.298+2T>C
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter) rs1602398950
NM_006306.4(SMC1A):c.302del (p.Gly101fs) rs2146606566
NM_006306.4(SMC1A):c.3098del (p.Ser1033fs)
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.4(SMC1A):c.3119dup (p.Thr1041fs) rs2075591559
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter) rs2146582701
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.4(SMC1A):c.3151C>T (p.Arg1051Ter) rs1569351907
NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys) rs797044896
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His) rs1556886034
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs) rs2075587887
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.4(SMC1A):c.3255T>A (p.Tyr1085Ter)
NM_006306.4(SMC1A):c.3283C>T (p.Gln1095Ter)
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His) rs2075586377
NM_006306.4(SMC1A):c.3367C>T (p.Arg1123Trp) rs2146582432
NM_006306.4(SMC1A):c.3422T>C (p.Leu1141Pro)
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr) rs1556885810
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) rs863225459
NM_006306.4(SMC1A):c.371T>A (p.Leu124Ter)
NM_006306.4(SMC1A):c.374del (p.Gly125fs)
NM_006306.4(SMC1A):c.392del (p.Arg131fs) rs2075725850
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val) rs2075725792
NM_006306.4(SMC1A):c.481del (p.Ser161fs) rs2146605644
NM_006306.4(SMC1A):c.511C>T (p.Arg171Ter)
NM_006306.4(SMC1A):c.52C>T (p.Arg18Ter)
NM_006306.4(SMC1A):c.547C>T (p.Gln183Ter) rs587784421
NM_006306.4(SMC1A):c.547_548del (p.Gln183fs) rs2146605568
NM_006306.4(SMC1A):c.586C>G (p.Arg196Gly) rs587784422
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.587G>A (p.Arg196His) rs1556890815
NM_006306.4(SMC1A):c.615+2T>C rs868985177
NM_006306.4(SMC1A):c.616-2A>G rs587784423
NM_006306.4(SMC1A):c.628C>T (p.Gln210Ter) rs2146605443
NM_006306.4(SMC1A):c.655del (p.Ala219fs) rs1569359048
NM_006306.4(SMC1A):c.733_734del (p.Lys245fs) rs2146605369
NM_006306.4(SMC1A):c.761del (p.Lys254fs) rs2146605339
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) rs727503773
NM_006306.4(SMC1A):c.909G>C (p.Glu303Asp)
NM_006306.4(SMC1A):c.955_956del (p.Leu319fs)
NM_018486.3(HDAC8):c.1001A>G (p.His334Arg) rs397515418
NM_018486.3(HDAC8):c.1010dup (p.Thr338fs)
NM_018486.3(HDAC8):c.104_105del (p.Pro35fs) rs1556165162
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) rs1555948969
NM_018486.3(HDAC8):c.1112-4_1116del rs1602491207
NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer) rs587783663
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs) rs797045610
NM_018486.3(HDAC8):c.164+2dup rs2147614590
NM_018486.3(HDAC8):c.164+5G>A rs398122888
NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter) rs797045611
NM_018486.3(HDAC8):c.295+2T>G rs2051897517
NM_018486.3(HDAC8):c.356C>G (p.Thr119Arg) rs587779380
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018486.3(HDAC8):c.471T>G (p.Asp157Glu) rs2148144488
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter) rs397515415
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) rs886041936
NM_018486.3(HDAC8):c.522C>A (p.Tyr174Ter) rs146015223
NM_018486.3(HDAC8):c.522C>G (p.Tyr174Ter) rs146015223
NM_018486.3(HDAC8):c.539A>G (p.His180Arg) rs397515416
NM_018486.3(HDAC8):c.738-1G>A rs1602975601
NM_018486.3(HDAC8):c.748del (p.Glu250fs)
NM_018486.3(HDAC8):c.75_82del (p.Val25_Ser26insTer) rs2147618568
NM_018486.3(HDAC8):c.75_82dup (p.Cys28fs)
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter) rs886041838
NM_018486.3(HDAC8):c.881G>A (p.Trp294Ter) rs2148045934
NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter) rs1569316085
NM_018486.3(HDAC8):c.956C>T (p.Thr319Ile) rs2148039184
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13
NM_133433.4(NIPBL):c.-321_-320delinsA rs724159980
NM_133433.4(NIPBL):c.-467C>T rs1251456909
NM_133433.4(NIPBL):c.1000_1009del (p.Asp334fs) rs1743386760
NM_133433.4(NIPBL):c.1003del (p.Glu335fs) rs587783877
NM_133433.4(NIPBL):c.1033_1036del (p.Tyr345fs) rs587783878
NM_133433.4(NIPBL):c.1057A>T (p.Lys353Ter) rs587783879
NM_133433.4(NIPBL):c.1075dup (p.Thr359fs)
NM_133433.4(NIPBL):c.1086_1087del (p.Arg364fs) rs587783880
NM_133433.4(NIPBL):c.10dup (p.Asp4fs) rs2149597479
NM_133433.4(NIPBL):c.1145del (p.Asn382fs) rs1554015145
NM_133433.4(NIPBL):c.1146dup (p.Ser383Ter) rs797045745
NM_133433.4(NIPBL):c.1183C>T (p.Gln395Ter) rs587783882
NM_133433.4(NIPBL):c.1297C>T (p.Gln433Ter) rs587783883
NM_133433.4(NIPBL):c.1320del (p.Asn440fs) rs1580373035
NM_133433.4(NIPBL):c.1336A>T (p.Lys446Ter)
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1372C>T (p.Gln458Ter) rs587783884
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) rs1554015303
NM_133433.4(NIPBL):c.1445_1448del (p.Arg482fs) rs80358382
NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs) rs80358382
NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs) rs797045746
NM_133433.4(NIPBL):c.1451C>G (p.Ser484Ter) rs1561102868
NM_133433.4(NIPBL):c.1458dup (p.Glu487Ter) rs2149628965
NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter) rs587783886
NM_133433.4(NIPBL):c.1495G>C (p.Asp499His)
NM_133433.4(NIPBL):c.150del (p.Asn51fs) rs1554011042
NM_133433.4(NIPBL):c.1513dup (p.Arg505fs) rs34314728
NM_133433.4(NIPBL):c.1514_1517del (p.Arg505fs) rs587783888
NM_133433.4(NIPBL):c.1530C>A (p.Tyr510Ter)
NM_133433.4(NIPBL):c.1547dup (p.Ala517fs) rs1554016981
NM_133433.4(NIPBL):c.1555G>T (p.Gly519Ter)
NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter) rs587783889
NM_133433.4(NIPBL):c.161T>A (p.Leu54Ter) rs1740842785
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter) rs1580394197
NM_133433.4(NIPBL):c.1672del (p.Thr558fs) rs2149643317
NM_133433.4(NIPBL):c.169del (p.Arg57fs) rs1554011046
NM_133433.4(NIPBL):c.1751_1752insATGGACTCTCAGGCTTCTATAACTCAGGATTCAGACTCCATAAAAAAGCCTGAAGAAATCAAACAATGTAATGATGCACCTGTTTCTGTTCTTCAGGAAGA rs2149643267
NM_133433.4(NIPBL):c.1753del (p.Ile585fs) rs587783891
NM_133433.4(NIPBL):c.1786_1790del (p.Asn595_His596insTer) rs2149643596
NM_133433.4(NIPBL):c.1808del (p.Lys603fs) rs727503767
NM_133433.4(NIPBL):c.1828_1829del (p.Lys610fs) rs2149643696
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter) rs587783892
NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter) rs1740845459
NM_133433.4(NIPBL):c.192del (p.Gln64fs) rs80358364
NM_133433.4(NIPBL):c.1942del (p.Thr648fs) rs2149644023
NM_133433.4(NIPBL):c.1956dup (p.Gln653fs) rs1554017175
NM_133433.4(NIPBL):c.1992dup (p.Glu665fs) rs797045748
NM_133433.4(NIPBL):c.19del (p.His7fs)
NM_133433.4(NIPBL):c.2046del (p.Lys682fs) rs587783894
NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter) rs587783896
NM_133433.4(NIPBL):c.2093del (p.Lys697_Ser698insTer)
NM_133433.4(NIPBL):c.2107_2108del (p.Pro703fs) rs587783897
NM_133433.4(NIPBL):c.2108del (p.Pro703fs) rs587783897
NM_133433.4(NIPBL):c.2120del (p.Gly707fs) rs1580396071
NM_133433.4(NIPBL):c.2126_2128delinsCTCTCAA (p.Ser709fs) rs1744639200
NM_133433.4(NIPBL):c.212_213dup (p.Val72fs) rs797045749
NM_133433.4(NIPBL):c.2149_2150del (p.Lys717fs) rs727503766
NM_133433.4(NIPBL):c.2207del (p.Pro736fs) rs2149644816
NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter) rs587783899
NM_133433.4(NIPBL):c.226del (p.His76fs) rs1580323151
NM_133433.4(NIPBL):c.2291del (p.Asn764fs) rs1580396767
NM_133433.4(NIPBL):c.230+5G>A rs1580323183
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter) rs587783901
NM_133433.4(NIPBL):c.2394_2397dup (p.Ala800Ter) rs797045750
NM_133433.4(NIPBL):c.2411_2412dup (p.Pro805fs) rs1744682329
NM_133433.4(NIPBL):c.241del (p.Asp81fs) rs1741183871
NM_133433.4(NIPBL):c.2422C>T (p.Arg808Ter) rs587783902
NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs) rs1554017345
NM_133433.4(NIPBL):c.2464del (p.Gln822fs) rs797045751
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.2479del (p.Arg827fs) rs1744695193
NM_133433.4(NIPBL):c.2489C>G (p.Ser830Ter) rs587783905
NM_133433.4(NIPBL):c.2494C>T (p.Arg832Ter) rs587783906
NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter) rs587783907
NM_133433.4(NIPBL):c.2509C>T (p.Gln837Ter)
NM_133433.4(NIPBL):c.2521C>T (p.Arg841Ter) rs797045752
NM_133433.4(NIPBL):c.2595dup (p.Leu866fs) rs1554017441
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter) rs398124466
NM_133433.4(NIPBL):c.2704_2707del (p.Lys902fs)
NM_133433.4(NIPBL):c.2711del (p.Arg904fs) rs587783909
NM_133433.4(NIPBL):c.2773_2774del (p.Lys925fs) rs587783910
NM_133433.4(NIPBL):c.2832T>A (p.Tyr944Ter) rs587783911
NM_133433.4(NIPBL):c.2837dup (p.Leu946fs) rs2149646411
NM_133433.4(NIPBL):c.286_287insG (p.Leu96fs) rs797045753
NM_133433.4(NIPBL):c.2903del (p.Asn968fs) rs587783912
NM_133433.4(NIPBL):c.2965dup (p.Ile989fs) rs797045754
NM_133433.4(NIPBL):c.2997del (p.Lys1000fs) rs2149646812
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) rs121918264
NM_133433.4(NIPBL):c.302_311del (p.Ala101fs) rs2149602979
NM_133433.4(NIPBL):c.3040C>T (p.Gln1014Ter) rs2149646884
NM_133433.4(NIPBL):c.3040del (p.Gln1014fs) rs2149646890
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs) rs587783914
NM_133433.4(NIPBL):c.308_311dup (p.Asn105fs) rs1741192008
NM_133433.4(NIPBL):c.3100A>T (p.Lys1034Ter) rs2149647035
NM_133433.4(NIPBL):c.3107C>G (p.Ser1036Ter) rs1554017661
NM_133433.4(NIPBL):c.310_317del (p.Pro104fs) rs587783917
NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter) rs1554019667
NM_133433.4(NIPBL):c.314dup (p.Asn105fs) rs797045755
NM_133433.4(NIPBL):c.3178del (p.Glu1060fs) rs2149662539
NM_133433.4(NIPBL):c.3248del (p.Pro1083fs) rs1554019698
NM_133433.4(NIPBL):c.3253del (p.Tyr1085fs) rs1580425629
NM_133433.4(NIPBL):c.3264del (p.Ser1089fs) rs797045756
NM_133433.4(NIPBL):c.3304+1G>A rs1554019712
NM_133433.4(NIPBL):c.3305-1G>T rs80358375
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter) rs2149668942
NM_133433.4(NIPBL):c.3322A>T (p.Lys1108Ter) rs587783919
NM_133433.4(NIPBL):c.3406G>T (p.Glu1136Ter) rs2149669144
NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter) rs866740147
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter) rs80358374
NM_133433.4(NIPBL):c.3455C>G (p.Ser1152Ter) rs1580436698
NM_133433.4(NIPBL):c.3461_3462del (p.Asp1153_Ser1154insTer) rs587783923
NM_133433.4(NIPBL):c.3482del (p.Pro1161fs)
NM_133433.4(NIPBL):c.3485del (p.Pro1162fs)
NM_133433.4(NIPBL):c.3526_3530del (p.Glu1176fs) rs587783925
NM_133433.4(NIPBL):c.3534_3535del (p.Lys1179fs) rs1746711848
NM_133433.4(NIPBL):c.3575-3C>G rs587783926
NM_133433.4(NIPBL):c.358+1G>T rs587783927
NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del) rs121918266
NM_133433.4(NIPBL):c.3646dup (p.Met1216fs)
NM_133433.4(NIPBL):c.3698T>G (p.Leu1233Ter) rs1554020997
NM_133433.4(NIPBL):c.3705dup (p.His1236fs)
NM_133433.4(NIPBL):c.3737C>G (p.Ala1246Gly) rs121918268
NM_133433.4(NIPBL):c.373C>T (p.Gln125Ter) rs2149607039
NM_133433.4(NIPBL):c.3758_3759del (p.Ile1253fs) rs1746965734
NM_133433.4(NIPBL):c.3788_3789del (p.Val1263fs) rs587783930
NM_133433.4(NIPBL):c.3855+1G>A rs587783933
NM_133433.4(NIPBL):c.3855+1G>T rs587783933
NM_133433.4(NIPBL):c.3866_3869del (p.Thr1289fs) rs587783934
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter) rs587783936
NM_133433.4(NIPBL):c.3895del (p.Ile1300fs) rs1580451470
NM_133433.4(NIPBL):c.3988G>T (p.Glu1330Ter) rs1561145912
NM_133433.4(NIPBL):c.3G>T (p.Met1Ile) rs587783937
NM_133433.4(NIPBL):c.4017C>A (p.Tyr1339Ter) rs587783938
NM_133433.4(NIPBL):c.4088-2A>T rs587783939
NM_133433.4(NIPBL):c.4098_4101del (p.Leu1366fs) rs587783940
NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs) rs587783941
NM_133433.4(NIPBL):c.4226_4227del (p.Thr1409fs)
NM_133433.4(NIPBL):c.4240-1G>C rs587783942
NM_133433.4(NIPBL):c.4275_4287del (p.Glu1425fs) rs587783944
NM_133433.4(NIPBL):c.4285_4294del (p.Glu1429fs) rs80358386
NM_133433.4(NIPBL):c.4320+1G>A rs587783945
NM_133433.4(NIPBL):c.4320+5G>A
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.4335T>A (p.Tyr1445Ter)
NM_133433.4(NIPBL):c.4335T>G (p.Tyr1445Ter) rs767317539
NM_133433.4(NIPBL):c.442_443dup (p.Ser150fs) rs2149607105
NM_133433.4(NIPBL):c.4455_4456dup (p.Tyr1486fs) rs2149681441
NM_133433.4(NIPBL):c.4495C>T (p.Gln1499Ter) rs797045760
NM_133433.4(NIPBL):c.4502_4503dup (p.Val1502fs) rs2149681475
NM_133433.4(NIPBL):c.4511T>A (p.Leu1504Ter) rs80358369
NM_133433.4(NIPBL):c.4529dup (p.Asp1510fs) rs797045761
NM_133433.4(NIPBL):c.4532_4533del (p.Asp1510_Ser1511insTer) rs797045762
NM_133433.4(NIPBL):c.4543G>T (p.Glu1515Ter) rs587783950
NM_133433.4(NIPBL):c.4550C>G (p.Ser1517Ter) rs751902505
NM_133433.4(NIPBL):c.456del (p.Ser153fs) rs587783951
NM_133433.4(NIPBL):c.458+1_458+2dup rs797045763
NM_133433.4(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528fs) rs797045764
NM_133433.4(NIPBL):c.459-2A>G rs1561083229
NM_133433.4(NIPBL):c.4593T>A (p.Tyr1531Ter) rs587783952
NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter) rs587783952
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter) rs121918269
NM_133433.4(NIPBL):c.4636del (p.Lys1548fs) rs587783953
NM_133433.4(NIPBL):c.4643+1G>A rs587783954
NM_133433.4(NIPBL):c.4643+1G>C rs587783954
NM_133433.4(NIPBL):c.4663del (p.Glu1555fs) rs587783955
NM_133433.4(NIPBL):c.4675_4750dup (p.Leu1584delinsGlnThrThrValTer) rs2149690678
NM_133433.4(NIPBL):c.4684_4687del (p.Phe1562fs) rs587783957
NM_133433.4(NIPBL):c.4686del (p.Phe1562fs) rs1554023967
NM_133433.4(NIPBL):c.4712C>A (p.Ser1571Ter) rs77632238
NM_133433.4(NIPBL):c.4733G>A (p.Trp1578Ter)
NM_133433.4(NIPBL):c.4770_4771del (p.Arg1590fs)
NM_133433.4(NIPBL):c.4787_4791del (p.Gln1595_Phe1596insTer) rs886041810
NM_133433.4(NIPBL):c.4806_4807del (p.Glu1602fs) rs80358372
NM_133433.4(NIPBL):c.4818_4819del (p.Arg1606fs) rs587783959
NM_133433.4(NIPBL):c.4893dup (p.Gly1632fs) rs797045766
NM_133433.4(NIPBL):c.4965_4972del (p.Asp1657fs) rs797045767
NM_133433.4(NIPBL):c.4988_4991dup (p.Glu1664delinsAspTer) rs797045768
NM_133433.4(NIPBL):c.5033_5039del (p.Ala1678fs) rs587783960
NM_133433.4(NIPBL):c.5044C>T (p.Arg1682Ter) rs797045769
NM_133433.4(NIPBL):c.5046_5047insTG (p.Asp1683fs) rs797045770
NM_133433.4(NIPBL):c.5087_5088del (p.Lys1696fs)
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter) rs121918267
NM_133433.4(NIPBL):c.5174del (p.Lys1725fs) rs587783961
NM_133433.4(NIPBL):c.5214dup (p.Ser1739Ter) rs730880331
NM_133433.4(NIPBL):c.5262C>A (p.Cys1754Ter) rs1554025252
NM_133433.4(NIPBL):c.5269del (p.Val1757fs) rs2149696978
NM_133433.4(NIPBL):c.5272C>T (p.Arg1758Ter)
NM_133433.4(NIPBL):c.5327A>G (p.Gln1776Arg)
NM_133433.4(NIPBL):c.5328+1G>A rs587783967
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.5329-1G>C rs587783969
NM_133433.4(NIPBL):c.5335C>T (p.Arg1779Ter) rs587783971
NM_133433.4(NIPBL):c.533del (p.Tyr178fs)
NM_133433.4(NIPBL):c.5365C>T (p.Arg1789Ter) rs587783972
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5389_5392del (p.Ser1797fs) rs587783973
NM_133433.4(NIPBL):c.5428-2A>G rs587783974
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) rs80358362
NM_133433.4(NIPBL):c.5455C>T (p.Arg1819Ter) rs587783975
NM_133433.4(NIPBL):c.5482C>T (p.Arg1828Ter) rs62654864
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln) rs587783978
NM_133433.4(NIPBL):c.5507G>A (p.Gly1836Asp) rs1749739420
NM_133433.4(NIPBL):c.5509C>T (p.Arg1837Ter) rs1554025780
NM_133433.4(NIPBL):c.5567G>T (p.Arg1856Ile) rs1554025796
NM_133433.4(NIPBL):c.5580dup (p.Gly1861fs) rs797045771
NM_133433.4(NIPBL):c.5639_5642del (p.Pro1880fs) rs2149702380
NM_133433.4(NIPBL):c.5679dup (p.Arg1894fs) rs797045772
NM_133433.4(NIPBL):c.5689_5691del (p.Asn1897del)
NM_133433.4(NIPBL):c.5709+1G>A rs587783979
NM_133433.4(NIPBL):c.5709+2T>G rs587783980
NM_133433.4(NIPBL):c.5725dup (p.Thr1909fs) rs2149704475
NM_133433.4(NIPBL):c.5739_5740del (p.Trp1914fs) rs797045773
NM_133433.4(NIPBL):c.5741G>C (p.Trp1914Ser) rs2149704501
NM_133433.4(NIPBL):c.5808+1G>A rs587783984
NM_133433.4(NIPBL):c.5808+2T>C rs794727556
NM_133433.4(NIPBL):c.5808+5G>A rs2149704635
NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter) rs80358360
NM_133433.4(NIPBL):c.5862+1G>A rs587783985
NM_133433.4(NIPBL):c.5972-1G>C
NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter) rs587783988
NM_133433.4(NIPBL):c.6017_6018dup (p.Thr2007Ter)
NM_133433.4(NIPBL):c.6027_6030del (p.Leu2009fs) rs2149721417
NM_133433.4(NIPBL):c.6080_6083dup (p.Gln2028fs) rs2149721484
NM_133433.4(NIPBL):c.6086_6087insT (p.Tyr2030fs) rs1554030285
NM_133433.4(NIPBL):c.610+1G>A rs587783993
NM_133433.4(NIPBL):c.6108+1G>T rs587783994
NM_133433.4(NIPBL):c.6108+2T>C rs797045775
NM_133433.4(NIPBL):c.6202A>C (p.Thr2068Pro)
NM_133433.4(NIPBL):c.6218T>A (p.Leu2073Gln)
NM_133433.4(NIPBL):c.6249+2dup rs797045776
NM_133433.4(NIPBL):c.6249+5G>A
NM_133433.4(NIPBL):c.6264_6267del (p.His2087_Cys2088insTer) rs1554031864
NM_133433.4(NIPBL):c.6317_6320del (p.Val2106fs) rs587784005
NM_133433.4(NIPBL):c.6359T>G (p.Leu2120Ter) rs2149732594
NM_133433.4(NIPBL):c.64+1G>A rs587784009
NM_133433.4(NIPBL):c.64+2_64+134del rs1740652803
NM_133433.4(NIPBL):c.64+3A>C rs587784010
NM_133433.4(NIPBL):c.6401_6404dup (p.Pro2138fs) rs1554032085
NM_133433.4(NIPBL):c.65-3T>G rs727503768
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6534_6535del (p.Met2178fs)
NM_133433.4(NIPBL):c.6565C>T (p.Gln2189Ter) rs587784013
NM_133433.4(NIPBL):c.6571A>T (p.Lys2191Ter) rs587784015
NM_133433.4(NIPBL):c.6589+5G>A rs1554032266
NM_133433.4(NIPBL):c.6590-2A>C rs587784016
NM_133433.4(NIPBL):c.6590G>A (p.Gly2197Glu) rs587784017
NM_133433.4(NIPBL):c.6620T>C (p.Met2207Thr) rs1753199066
NM_133433.4(NIPBL):c.6631G>T (p.Glu2211Ter) rs80358363
NM_133433.4(NIPBL):c.6635T>A (p.Val2212Glu) rs1554032789
NM_133433.4(NIPBL):c.6641_6647del (p.Asn2214fs) rs80358361
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del) rs587784022
NM_133433.4(NIPBL):c.6648_6649del (p.Tyr2216_Asn2217delinsTer) rs587784021
NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs) rs2149737037
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met) rs1579570362
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs) rs797045778
NM_133433.4(NIPBL):c.6763+1G>A rs1753212131
NM_133433.4(NIPBL):c.6796G>T (p.Glu2266Ter) rs1554032954
NM_133433.4(NIPBL):c.6811dup (p.Ser2271fs) rs797045780
NM_133433.4(NIPBL):c.6819G>T (p.Gly2273=)
NM_133433.4(NIPBL):c.6826A>C (p.Ser2276Arg)
NM_133433.4(NIPBL):c.6892C>G (p.Arg2298Gly) rs80358376
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.6952C>T (p.Gln2318Ter) rs587784026
NM_133433.4(NIPBL):c.6954+1G>A rs587784027
NM_133433.4(NIPBL):c.6955-2A>C rs2149741447
NM_133433.4(NIPBL):c.6998del (p.Ala2333fs) rs1561214997
NM_133433.4(NIPBL):c.7011_7012del (p.Lys2337fs) rs587784029
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7013del (p.Ala2338fs) rs2149741562
NM_133433.4(NIPBL):c.7062+2T>C rs587784032
NM_133433.4(NIPBL):c.7097A>C (p.Gln2366Pro)
NM_133433.4(NIPBL):c.7102C>T (p.Gln2368Ter) rs587784033
NM_133433.4(NIPBL):c.7106del (p.Gln2369fs) rs587784034
NM_133433.4(NIPBL):c.7141G>C (p.Gly2381Arg)
NM_133433.4(NIPBL):c.7150C>T (p.Gln2384Ter) rs1057516034
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.4(NIPBL):c.7198del (p.Arg2400fs) rs587784037
NM_133433.4(NIPBL):c.7199G>C (p.Arg2400Pro) rs765741574
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) rs398124471
NM_133433.4(NIPBL):c.7264-6T>G rs587784038
NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys) rs121918265
NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs) rs1561222491
NM_133433.4(NIPBL):c.7307C>T (p.Ala2436Val) rs2149750114
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter) rs80358370
NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly) rs587784042
NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs) rs587784043
NM_133433.4(NIPBL):c.7617_7618del (p.Ser2540fs)
NM_133433.4(NIPBL):c.7631T>A (p.Leu2544Ter)
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) rs727503772
NM_133433.4(NIPBL):c.7701_7725del (p.Ser2568fs) rs587784047
NM_133433.4(NIPBL):c.7702del (p.Ser2568fs) rs1554035266
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.772-1G>A rs587784049
NM_133433.4(NIPBL):c.7749_7755dup (p.Val2586fs) rs1754594011
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs) rs80358368
NM_133433.4(NIPBL):c.7806dup (p.Asn2603Ter) rs80358371
NM_133433.4(NIPBL):c.7816dup (p.Ile2606fs) rs797045783
NM_133433.4(NIPBL):c.7834dup (p.Arg2612fs) rs2149755630
NM_133433.4(NIPBL):c.7841_7842dup (p.Val2615Ter) rs797045784
NM_133433.4(NIPBL):c.7848del (p.Lys2616fs)
NM_133433.4(NIPBL):c.7849C>T (p.Gln2617Ter) rs587784050
NM_133433.4(NIPBL):c.7850_7851del (p.Gln2617fs) rs1754603855
NM_133433.4(NIPBL):c.7854T>G (p.Tyr2618Ter)
NM_133433.4(NIPBL):c.7854del (p.Tyr2618_Leu2619insTer) rs2149755687
NM_133433.4(NIPBL):c.7861-1G>C rs1561231553
NM_133433.4(NIPBL):c.7903_7940del (p.Glu2635fs) rs727503771
NM_133433.4(NIPBL):c.7912dup (p.Glu2638fs) rs797045785
NM_133433.4(NIPBL):c.7913dup (p.Val2639fs) rs797045786
NM_133433.4(NIPBL):c.793_794insTTCC (p.Arg265fs) rs2149621638
NM_133433.4(NIPBL):c.7948dup (p.Ile2650fs) rs2149759954
NM_133433.4(NIPBL):c.7967dup (p.Gly2657fs) rs1755082448
NM_133433.4(NIPBL):c.8049+1G>A
NM_133433.4(NIPBL):c.8165_8183del (p.Pro2722fs) rs587784052
NM_133433.4(NIPBL):c.8275_8276dup (p.Val2760fs) rs797045787
NM_133433.4(NIPBL):c.8277_8283del (p.Val2760fs) rs587784055
NM_133433.4(NIPBL):c.8300_8301del (p.Lys2767fs) rs587784056
NM_133433.4(NIPBL):c.8326del (p.Ile2776fs) rs1157335847
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs) rs1157335847
NM_133433.4(NIPBL):c.8331del (p.Ala2777_Leu2778insTer) rs1755224830
NM_133433.4(NIPBL):c.8342_8348delinsATT (p.Ala2781fs) rs797045789
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter) rs398124474
NM_133433.4(NIPBL):c.869-1G>A rs587784059
NM_133433.4(NIPBL):c.86del (p.Pro29fs) rs587784060
NM_133433.4(NIPBL):c.874A>T (p.Arg292Ter)
NM_133433.4(NIPBL):c.892C>T (p.Gln298Ter) rs587784062
NM_133433.4(NIPBL):c.892del (p.Gln298fs) rs587784063
NM_133433.4(NIPBL):c.914C>A (p.Ser305Ter) rs727503770
NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter) rs587784065
NM_139315.3(TAF6):c.136C>T (p.Arg46Cys) rs727503778
SMC1A, 8.152-KB DEL
Single allele

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