ClinVar Miner

List of variants studied for Cornelia de Lange syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 326
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HGVS dbSNP
NM_005445.3(SMC3):c.1280A>G (p.Lys427Arg) rs142524280
NM_005445.3(SMC3):c.1581T>C (p.His527=) rs182445355
NM_005445.3(SMC3):c.1680T>C (p.Tyr560=) rs75817442
NM_005445.3(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.3(SMC3):c.2005T>G (p.Tyr669Asp) rs776056911
NM_005445.3(SMC3):c.2264C>T (p.Pro755Leu) rs76568464
NM_005445.3(SMC3):c.2268+4C>T rs587784426
NM_005445.3(SMC3):c.2299T>C (p.Leu767=) rs139763232
NM_005445.3(SMC3):c.2329T>C (p.Leu777=) rs76625999
NM_005445.3(SMC3):c.2338G>C (p.Glu780Gln) rs587784427
NM_005445.3(SMC3):c.2427+13C>T rs190798929
NM_005445.3(SMC3):c.2493T>C (p.Tyr831=) rs112525060
NM_005445.3(SMC3):c.2535+15T>G rs3818903
NM_005445.3(SMC3):c.255A>G (p.Ser85=) rs146433240
NM_005445.3(SMC3):c.2636G>C (p.Arg879Pro) rs797045996
NM_005445.3(SMC3):c.2710T>C (p.Trp904Arg) rs112281749
NM_005445.3(SMC3):c.2934G>A (p.Lys978=) rs147463420
NM_005445.3(SMC3):c.2964T>C (p.Asp988=) rs111611128
NM_005445.3(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.3(SMC3):c.377A>G (p.Glu126Gly) rs113411202
NM_005445.3(SMC3):c.507C>T (p.Asp169=) rs370909218
NM_005445.3(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005445.3(SMC3):c.859_861dup (p.Glu287_Lys288insGlu) rs797045997
NM_006265.2(RAD21):c.1617A>G (p.Glu539=) rs138040512
NM_006265.2(RAD21):c.1782C>T (p.Ala594=) rs61737172
NM_006265.2(RAD21):c.181_182dup (p.Gly62Trpfs) rs1554612096
NM_006265.2(RAD21):c.56_62del (p.Leu19Profs) rs797045907
NM_006265.2(RAD21):c.579dup (p.Glu194Argfs) rs797045908
NM_006265.2(RAD21):c.592_593dup (p.Ser198Argfs) rs797045909
NM_006306.3(SMC1A):c.1142_1144del (p.Glu381del) rs797045991
NM_006306.3(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.3(SMC1A):c.1254+11G>C rs144354524
NM_006306.3(SMC1A):c.1267C>A (p.Gln423Lys) rs587784404
NM_006306.3(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.3(SMC1A):c.1545+4A>C rs377270943
NM_006306.3(SMC1A):c.1754T>C (p.Leu585Pro) rs587784406
NM_006306.3(SMC1A):c.1877G>A (p.Arg626His) rs587784407
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.2327T>A (p.Val776Glu) rs587784410
NM_006306.3(SMC1A):c.2350A>G (p.Ile784Val) rs587784411
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.285C>G (p.Ala95=) rs587784414
NM_006306.3(SMC1A):c.3070A>T (p.Asn1024Tyr) rs587784415
NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
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.3557T>C (p.Val1186Ala) rs587784419
NM_006306.3(SMC1A):c.421G>A (p.Glu141Lys) rs587784420
NM_006306.3(SMC1A):c.547C>T (p.Gln183Ter) rs587784421
NM_006306.3(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.3(SMC1A):c.616-2A>G rs587784423
NM_006306.3(SMC1A):c.802_804delAAG (p.Lys268del) rs727503773
NM_006306.3(SMC1A):c.855-15C>T rs147791932
NM_015384.4(NIPBL):c.1448_1449delAAinsCTCCCTT (p.Glu483Alafs) rs797045746
NM_015384.4(NIPBL):c.5440C>T (p.Arg1814Ter) rs80358362
NM_018486.2(HDAC8):c.-5G>T rs587783662
NM_018486.2(HDAC8):c.131del (p.Leu44Terfs) rs587783663
NM_018486.2(HDAC8):c.134_137del (p.Ile45Lysfs) rs797045610
NM_018486.2(HDAC8):c.229C>T (p.Gln77Ter) rs797045611
NM_018486.2(HDAC8):c.24G>A (p.Ala8=) rs61736843
NM_018486.2(HDAC8):c.421_423del (p.Trp141del) rs587783664
NM_018486.2(HDAC8):c.556G>A (p.Glu186Lys) rs797045612
NM_018486.2(HDAC8):c.770C>A (p.Pro257His) rs797045613
NM_133433.3(NIPBL):c.1003del (p.Glu335Lysfs) rs587783877
NM_133433.3(NIPBL):c.1033_1036del (p.Tyr345Ilefs) rs587783878
NM_133433.3(NIPBL):c.1057A>T (p.Lys353Ter) rs587783879
NM_133433.3(NIPBL):c.1086_1087del (p.Arg364Cysfs) rs587783880
NM_133433.3(NIPBL):c.1146dup (p.Ser383Terfs) rs797045745
NM_133433.3(NIPBL):c.1183C>T (p.Gln395Ter) rs587783882
NM_133433.3(NIPBL):c.1212C>T (p.Pro404=) rs80358349
NM_133433.3(NIPBL):c.1297C>T (p.Gln433Ter) rs587783883
NM_133433.3(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.3(NIPBL):c.1372C>T (p.Gln458Ter) rs587783884
NM_133433.3(NIPBL):c.1445_1448del (p.Arg482Asnfs) rs80358382
NM_133433.3(NIPBL):c.1447_1448del (p.Glu483Ilefs) rs80358382
NM_133433.3(NIPBL):c.145G>T (p.Glu49Ter) rs587783886
NM_133433.3(NIPBL):c.1477A>G (p.Lys493Glu) rs587783887
NM_133433.3(NIPBL):c.1496-8A>G rs797045747
NM_133433.3(NIPBL):c.1514_1517del (p.Arg505Asnfs) rs587783888
NM_133433.3(NIPBL):c.1576C>T (p.Gln526Ter) rs587783889
NM_133433.3(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890
NM_133433.3(NIPBL):c.1753del (p.Ile585Leufs) rs587783891
NM_133433.3(NIPBL):c.1885C>T (p.Arg629Ter) rs587783892
NM_133433.3(NIPBL):c.192del (p.Gln64Hisfs) rs80358364
NM_133433.3(NIPBL):c.1992_1993insC (p.Glu665Argfs) rs797045748
NM_133433.3(NIPBL):c.201_212del (p.His67_Asn70del) rs587783893
NM_133433.3(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471
NM_133433.3(NIPBL):c.2046del (p.Lys682Asnfs) rs587783894
NM_133433.3(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152
NM_133433.3(NIPBL):c.206T>C (p.Leu69Pro) rs587783895
NM_133433.3(NIPBL):c.2093C>G (p.Ser698Ter) rs587783896
NM_133433.3(NIPBL):c.2107_2108del (p.Pro703Lysfs) rs587783897
NM_133433.3(NIPBL):c.2108del (p.Pro703Glnfs) rs587783897
NM_133433.3(NIPBL):c.212_213dup (p.Val72Argfs) rs797045749
NM_133433.3(NIPBL):c.2256A>G (p.Glu752=) rs148075057
NM_133433.3(NIPBL):c.2260C>T (p.Arg754Ter) rs587783899
NM_133433.3(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.3(NIPBL):c.2389C>T (p.Arg797Ter) rs587783901
NM_133433.3(NIPBL):c.2394_2397dup (p.Ala800Terfs) rs797045750
NM_133433.3(NIPBL):c.2422C>T (p.Arg808Ter) rs587783902
NM_133433.3(NIPBL):c.2464_2464del rs797045751
NM_133433.3(NIPBL):c.2464_2467del (p.Gln822Asnfs) rs1554017345
NM_133433.3(NIPBL):c.2471C>T (p.Ser824Leu) rs587783904
NM_133433.3(NIPBL):c.2479_2480delAG (p.Arg827Glyfs) rs398124465
NM_133433.3(NIPBL):c.2489C>G (p.Ser830Ter) rs587783905
NM_133433.3(NIPBL):c.2494C>T (p.Arg832Ter) rs587783906
NM_133433.3(NIPBL):c.2500C>T (p.Arg834Ter) rs587783907
NM_133433.3(NIPBL):c.2505G>T (p.Gly835=) rs587783908
NM_133433.3(NIPBL):c.2521C>T (p.Arg841Ter) rs797045752
NM_133433.3(NIPBL):c.2602C>T (p.Arg868Ter) rs398124466
NM_133433.3(NIPBL):c.2711del (p.Arg904Asnfs) rs587783909
NM_133433.3(NIPBL):c.2773_2774del (p.Lys925Glufs) rs587783910
NM_133433.3(NIPBL):c.2832T>A (p.Tyr944Ter) rs587783911
NM_133433.3(NIPBL):c.286_287insG (p.Leu96Cysfs) rs797045753
NM_133433.3(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605
NM_133433.3(NIPBL):c.2903del (p.Asn968Metfs) rs587783912
NM_133433.3(NIPBL):c.2965dup (p.Ile989Asnfs) rs797045754
NM_133433.3(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.3(NIPBL):c.3060_3063delAGAG (p.Glu1021Thrfs) rs587783914
NM_133433.3(NIPBL):c.3103C>G (p.Pro1035Ala) rs587783915
NM_133433.3(NIPBL):c.3107C>G (p.Ser1036Ter) rs1554017661
NM_133433.3(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916
NM_133433.3(NIPBL):c.310_317del (p.Pro104Phefs) rs587783917
NM_133433.3(NIPBL):c.3122-2A>G rs587783918
NM_133433.3(NIPBL):c.3137C>A (p.Ser1046Ter) rs1554019663
NM_133433.3(NIPBL):c.314_315insA (p.Asn105Lysfs) rs797045755
NM_133433.3(NIPBL):c.3264del (p.Ser1089Valfs) rs797045756
NM_133433.3(NIPBL):c.3304+5G>A rs80358356
NM_133433.3(NIPBL):c.3305-1G>T rs80358375
NM_133433.3(NIPBL):c.3322A>T (p.Lys1108Ter) rs587783919
NM_133433.3(NIPBL):c.332G>A (p.Ser111Asn) rs587783920
NM_133433.3(NIPBL):c.3369A>C (p.Arg1123Ser) rs140344071
NM_133433.3(NIPBL):c.3423A>G (p.Ser1141=) rs571024836
NM_133433.3(NIPBL):c.3440G>A (p.Arg1147Gln) rs587783921
NM_133433.3(NIPBL):c.3445C>T (p.Arg1149Ter) rs80358374
NM_133433.3(NIPBL):c.345A>G (p.Arg115=) rs587783922
NM_133433.3(NIPBL):c.3461_3462del (p.Ser1154Terfs) rs587783923
NM_133433.3(NIPBL):c.3503-9T>G rs587783924
NM_133433.3(NIPBL):c.3526_3530del (p.Glu1176Thrfs) rs587783925
NM_133433.3(NIPBL):c.3575-3C>G rs587783926
NM_133433.3(NIPBL):c.358+1G>T rs587783927
NM_133433.3(NIPBL):c.358+5G>C rs587783928
NM_133433.3(NIPBL):c.3698T>G (p.Leu1233Ter) rs1554020997
NM_133433.3(NIPBL):c.3788_3789del (p.Val1263Glufs) rs587783930
NM_133433.3(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del) rs587783931
NM_133433.3(NIPBL):c.3818T>G (p.Ile1273Ser) rs587783932
NM_133433.3(NIPBL):c.3851A>G (p.Asn1284Ser) rs143152112
NM_133433.3(NIPBL):c.3855+1G>T rs587783933
NM_133433.3(NIPBL):c.3855+5G>A rs80358378
NM_133433.3(NIPBL):c.3856-12A>C rs199847583
NM_133433.3(NIPBL):c.3856-7_3856-5del rs797045757
NM_133433.3(NIPBL):c.3866_3869del (p.Thr1289Lysfs) rs587783934
NM_133433.3(NIPBL):c.3868G>A (p.Glu1290Lys) rs587783935
NM_133433.3(NIPBL):c.3874G>T (p.Glu1292Ter) rs587783936
NM_133433.3(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.3(NIPBL):c.3G>T (p.Met1Ile) rs587783937
NM_133433.3(NIPBL):c.4017C>A (p.Tyr1339Ter) rs587783938
NM_133433.3(NIPBL):c.4088-2A>T rs587783939
NM_133433.3(NIPBL):c.4098_4101del (p.Leu1366Phefs) rs587783940
NM_133433.3(NIPBL):c.4143_4144del (p.Arg1381Serfs) rs587783941
NM_133433.3(NIPBL):c.4240-1G>C rs587783942
NM_133433.3(NIPBL):c.4275_4287del (p.Glu1425Aspfs) rs587783944
NM_133433.3(NIPBL):c.4285_4294del (p.Glu1429Cysfs) rs80358386
NM_133433.3(NIPBL):c.4320+1G>A rs587783945
NM_133433.3(NIPBL):c.4320+2dup rs797045758
NM_133433.3(NIPBL):c.4321-15A>G rs587783946
NM_133433.3(NIPBL):c.4421G>C (p.Arg1474Thr) rs587783947
NM_133433.3(NIPBL):c.4422G>T (p.Arg1474Ser) rs80358358
NM_133433.3(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.3(NIPBL):c.4495C>T (p.Gln1499Ter) rs797045760
NM_133433.3(NIPBL):c.4511T>A (p.Leu1504Ter) rs80358369
NM_133433.3(NIPBL):c.4529dupA (p.Asp1510Glufs) rs797045761
NM_133433.3(NIPBL):c.4532_4533del (p.Ser1511Terfs) rs797045762
NM_133433.3(NIPBL):c.4543G>T (p.Glu1515Ter) rs587783950
NM_133433.3(NIPBL):c.456del (p.Ser153Alafs) rs587783951
NM_133433.3(NIPBL):c.458+1_458+2dup rs797045763
NM_133433.3(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528Leufs) rs797045764
NM_133433.3(NIPBL):c.4593T>G (p.Tyr1531Ter) rs587783952
NM_133433.3(NIPBL):c.4606C>T (p.Arg1536Ter) rs121918269
NM_133433.3(NIPBL):c.4636del (p.Lys1548Asnfs) rs587783953
NM_133433.3(NIPBL):c.4643+1G>C rs587783954
NM_133433.3(NIPBL):c.4663del (p.Glu1555Lysfs) rs587783955
NM_133433.3(NIPBL):c.4684_4687del (p.Phe1562Lysfs) rs587783957
NM_133433.3(NIPBL):c.4712C>A (p.Ser1571Ter) rs77632238
NM_133433.3(NIPBL):c.4731A>G (p.Glu1577=) rs140021654
NM_133433.3(NIPBL):c.4806_4807del (p.Glu1602Aspfs) rs80358372
NM_133433.3(NIPBL):c.4818_4819del (p.Arg1606Serfs) rs587783959
NM_133433.3(NIPBL):c.4893dup (p.Gly1632Argfs) rs797045766
NM_133433.3(NIPBL):c.4965_4972delGCTTGATT (p.Asp1657Glyfs) rs797045767
NM_133433.3(NIPBL):c.4988_4991dup (p.Glu1664Aspfs) rs797045768
NM_133433.3(NIPBL):c.5033_5039del (p.Ala1678Glyfs) rs587783960
NM_133433.3(NIPBL):c.5044C>T (p.Arg1682Ter) rs797045769
NM_133433.3(NIPBL):c.5046_5047insTG (p.Asp1683Trpfs) rs797045770
NM_133433.3(NIPBL):c.5167C>T (p.Arg1723Ter) rs121918267
NM_133433.3(NIPBL):c.5174del (p.Lys1725Serfs) rs587783961
NM_133433.3(NIPBL):c.5327A>T (p.Gln1776Leu) rs587783966
NM_133433.3(NIPBL):c.5328+1G>A rs587783967
NM_133433.3(NIPBL):c.5329-1G>C rs587783969
NM_133433.3(NIPBL):c.5330T>G (p.Ile1777Ser) rs587783970
NM_133433.3(NIPBL):c.5335C>T (p.Arg1779Ter) rs587783971
NM_133433.3(NIPBL):c.5365C>T (p.Arg1789Ter) rs587783972
NM_133433.3(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.3(NIPBL):c.5389_5392del (p.Ser1797Argfs) rs587783973
NM_133433.3(NIPBL):c.5428-2A>G rs587783974
NM_133433.3(NIPBL):c.5455C>T (p.Arg1819Ter) rs587783975
NM_133433.3(NIPBL):c.5456G>A (p.Arg1819Gln) rs80358366
NM_133433.3(NIPBL):c.5464G>T (p.Asp1822Tyr) rs587783976
NM_133433.3(NIPBL):c.5465A>G (p.Asp1822Gly) rs587783977
NM_133433.3(NIPBL):c.5482C>T (p.Arg1828Ter) rs62654864
NM_133433.3(NIPBL):c.5483G>A (p.Arg1828Gln) rs587783978
NM_133433.3(NIPBL):c.5566A>G (p.Arg1856Gly) rs80358373
NM_133433.3(NIPBL):c.5580dupT (p.Gly1861Trpfs) rs797045771
NM_133433.3(NIPBL):c.5679_5680insT (p.Arg1894Serfs) rs797045772
NM_133433.3(NIPBL):c.5709+1G>A rs587783979
NM_133433.3(NIPBL):c.5709+2T>G rs587783980
NM_133433.3(NIPBL):c.5732A>C (p.Gln1911Pro) rs587783982
NM_133433.3(NIPBL):c.5739_5740del (p.Trp1914Valfs) rs797045773
NM_133433.3(NIPBL):c.5808+1G>A rs587783984
NM_133433.3(NIPBL):c.585C>G (p.Tyr195Ter) rs80358360
NM_133433.3(NIPBL):c.5862+1G>A rs587783985
NM_133433.3(NIPBL):c.5923G>T (p.Val1975Phe) rs587783986
NM_133433.3(NIPBL):c.5924_5926del (p.Val1975del) rs587783987
NM_133433.3(NIPBL):c.5944A>C (p.Ile1982Leu) rs370593530
NM_133433.3(NIPBL):c.598C>T (p.Gln200Ter) rs587783988
NM_133433.3(NIPBL):c.6037A>C (p.Ser2013Arg) rs587783989
NM_133433.3(NIPBL):c.6067C>A (p.His2023Asn) rs587783990
NM_133433.3(NIPBL):c.6068A>G (p.His2023Arg) rs587783991
NM_133433.3(NIPBL):c.6071C>A (p.Ala2024Glu) rs587783992
NM_133433.3(NIPBL):c.610+1G>A rs587783993
NM_133433.3(NIPBL):c.6108+1G>T rs587783994
NM_133433.3(NIPBL):c.6108+2T>C rs797045775
NM_133433.3(NIPBL):c.6108+7A>G rs587783995
NM_133433.3(NIPBL):c.611-10T>C rs368836554
NM_133433.3(NIPBL):c.6158T>C (p.Leu2053Pro) rs587783997
NM_133433.3(NIPBL):c.6170T>C (p.Leu2057Pro) rs587783998
NM_133433.3(NIPBL):c.6182C>T (p.Pro2061Leu) rs587783999
NM_133433.3(NIPBL):c.6242G>T (p.Gly2081Val) rs587784000
NM_133433.3(NIPBL):c.6249+2dup rs797045776
NM_133433.3(NIPBL):c.6250G>T (p.Val2084Leu) rs587784002
NM_133433.3(NIPBL):c.6264_6267del (p.Cys2088Terfs) rs1554031864
NM_133433.3(NIPBL):c.6266T>G (p.Val2089Gly) rs587784003
NM_133433.3(NIPBL):c.6316G>C (p.Val2106Leu) rs587784004
NM_133433.3(NIPBL):c.6317_6320del (p.Val2106Glyfs) rs587784005
NM_133433.3(NIPBL):c.6343+5G>A rs80358383
NM_133433.3(NIPBL):c.6343G>A (p.Gly2115Ser) rs587784007
NM_133433.3(NIPBL):c.6362_6364del (p.Lys2121del) rs587784008
NM_133433.3(NIPBL):c.64+1G>A rs587784009
NM_133433.3(NIPBL):c.64+3A>C rs587784010
NM_133433.3(NIPBL):c.64+5G>A rs587784011
NM_133433.3(NIPBL):c.6401_6404dup (p.Pro2138Glnfs) rs1554032085
NM_133433.3(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690
NM_133433.3(NIPBL):c.65-5A>G rs587784012
NM_133433.3(NIPBL):c.6565C>T (p.Gln2189Ter) rs587784013
NM_133433.3(NIPBL):c.6568A>G (p.Thr2190Ala) rs587784014
NM_133433.3(NIPBL):c.6571A>T (p.Lys2191Ter) rs587784015
NM_133433.3(NIPBL):c.6589+9A>T rs370709104
NM_133433.3(NIPBL):c.6590-2A>C rs587784016
NM_133433.3(NIPBL):c.6590G>A (p.Gly2197Glu) rs587784017
NM_133433.3(NIPBL):c.6631G>T (p.Glu2211Ter) rs80358363
NM_133433.3(NIPBL):c.6632_6634del (p.Glu2211del) rs587784019
NM_133433.3(NIPBL):c.6641_6647del (p.Asn2214Ilefs) rs80358361
NM_133433.3(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.3(NIPBL):c.6648_6649del (p.Tyr2216Terfs) rs587784021
NM_133433.3(NIPBL):c.6653_6655del (p.Asn2218del) rs587784022
NM_133433.3(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.3(NIPBL):c.6707dup (p.Asn2236Lysfs) rs797045778
NM_133433.3(NIPBL):c.678G>A (p.Pro226=) rs192822119
NM_133433.3(NIPBL):c.6800T>G (p.Met2267Arg) rs797045779
NM_133433.3(NIPBL):c.6811dup (p.Ser2271Phefs) rs797045780
NM_133433.3(NIPBL):c.6892C>G (p.Arg2298Gly) rs80358376
NM_133433.3(NIPBL):c.6892C>T (p.Arg2298Cys) rs80358376
NM_133433.3(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.3(NIPBL):c.6935G>T (p.Gly2312Val) rs587784025
NM_133433.3(NIPBL):c.6952C>T (p.Gln2318Ter) rs587784026
NM_133433.3(NIPBL):c.6954+1G>A rs587784027
NM_133433.3(NIPBL):c.6993A>G (p.Glu2331=) rs587784028
NM_133433.3(NIPBL):c.7011_7012del (p.Lys2337Asnfs) rs587784029
NM_133433.3(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.3(NIPBL):c.7024C>T (p.Leu2342Phe) rs587784031
NM_133433.3(NIPBL):c.7062+2T>C rs587784032
NM_133433.3(NIPBL):c.7102C>T (p.Gln2368Ter) rs587784033
NM_133433.3(NIPBL):c.7106del (p.Gln2369Argfs) rs587784034
NM_133433.3(NIPBL):c.7141G>A (p.Gly2381Ser) rs587784035
NM_133433.3(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.3(NIPBL):c.7198del (p.Arg2400Valfs) rs587784037
NM_133433.3(NIPBL):c.7219C>T (p.Arg2407Ter) rs398124471
NM_133433.3(NIPBL):c.7264-6T>G rs587784038
NM_133433.3(NIPBL):c.7301A>G (p.Asn2434Ser) rs80358384
NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13
NM_133433.3(NIPBL):c.7306G>A (p.Ala2436Thr) rs587784039
NM_133433.3(NIPBL):c.7327C>T (p.Gln2443Ter) rs80358370
NM_133433.3(NIPBL):c.7336_7338del (p.Pro2446del) rs587784040
NM_133433.3(NIPBL):c.7348_7350del (p.Met2450del) rs587784041
NM_133433.3(NIPBL):c.737A>G (p.Asp246Gly) rs587784042
NM_133433.3(NIPBL):c.7439_7440delGA (p.Arg2480Lysfs) rs587784043
NM_133433.3(NIPBL):c.7542_7547del (p.Asp2514_Ser2515del) rs587784044
NM_133433.3(NIPBL):c.7625G>A (p.Gly2542Asp) rs587784045
NM_133433.3(NIPBL):c.7641C>T (p.Leu2547=) rs587784046
NM_133433.3(NIPBL):c.7701_7725del (p.Ser2568Metfs) rs587784047
NM_133433.3(NIPBL):c.771+1G>A rs587784048
NM_133433.3(NIPBL):c.772-1G>A rs587784049
NM_133433.3(NIPBL):c.7789delC (p.Leu2597Cysfs) rs80358368
NM_133433.3(NIPBL):c.7806_7807insT (p.Asn2603Terfs) rs80358371
NM_133433.3(NIPBL):c.7816dup (p.Ile2606Asnfs) rs797045783
NM_133433.3(NIPBL):c.7841_7842dup (p.Val2615Terfs) rs797045784
NM_133433.3(NIPBL):c.7849C>T (p.Gln2617Ter) rs587784050
NM_133433.3(NIPBL):c.7912_7913insG (p.Glu2638Glyfs) rs797045785
NM_133433.3(NIPBL):c.7913dup (p.Val2639Glyfs) rs797045786
NM_133433.3(NIPBL):c.8165_8183del (p.Pro2722Argfs) rs587784052
NM_133433.3(NIPBL):c.8173G>C (p.Ala2725Pro) rs587784053
NM_133433.3(NIPBL):c.8275_8276dup (p.Val2760Trpfs) rs797045787
NM_133433.3(NIPBL):c.8277_8283del (p.Val2760Glyfs) rs587784055
NM_133433.3(NIPBL):c.8296_8300delATTAAinsTT (p.Ile2766_Lys2767delinsLeu) rs797045788
NM_133433.3(NIPBL):c.8300_8301del (p.Lys2767Argfs) rs587784056
NM_133433.3(NIPBL):c.8336C>T (p.Thr2779Met) rs587784057
NM_133433.3(NIPBL):c.8342_8348delCTAATAAinsATT (p.Ala2781Aspfs) rs797045789
NM_133433.3(NIPBL):c.8377C>T (p.Arg2793Ter) rs398124474
NM_133433.3(NIPBL):c.869-1G>A rs587784059
NM_133433.3(NIPBL):c.86delC (p.Pro29Hisfs) rs587784060
NM_133433.3(NIPBL):c.892C>T (p.Gln298Ter) rs587784062
NM_133433.3(NIPBL):c.892del (p.Gln298Asnfs) rs587784063
NM_133433.3(NIPBL):c.894A>G (p.Gln298=) rs587784064
NM_133433.3(NIPBL):c.922C>T (p.Arg308Ter) rs587784065

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