ClinVar Miner

List of variants in gene NIPBL studied for Cornelia de Lange syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 388
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HGVS dbSNP
NC_000005.10:g.36976227del
NC_000005.9:g.(?_37044429)_(37049423_?)del
NIPBL, IVS44DS, A-G, +4
NM_133433.3(NIPBL):c.3856-?_4239+?del
NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13
NM_133433.4(NIPBL):c.-153dup rs567891305
NM_133433.4(NIPBL):c.-243A>C rs544681871
NM_133433.4(NIPBL):c.-265A>G rs879291582
NM_133433.4(NIPBL):c.-307C>T rs377354585
NM_133433.4(NIPBL):c.-312T>A rs540966156
NM_133433.4(NIPBL):c.-321_-320delinsA rs724159980
NM_133433.4(NIPBL):c.-338C>T rs886060556
NM_133433.4(NIPBL):c.-379G>A rs886060555
NM_133433.4(NIPBL):c.-410C>T rs886060554
NM_133433.4(NIPBL):c.-416dup rs886060553
NM_133433.4(NIPBL):c.-424T>C rs886060552
NM_133433.4(NIPBL):c.-428G>C rs886060551
NM_133433.4(NIPBL):c.-429del rs376839773
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.1086_1087del (p.Arg364fs) rs587783880
NM_133433.4(NIPBL):c.1145del (p.Asn382fs) rs1554015145
NM_133433.4(NIPBL):c.1146dup (p.Ser383Ter) rs797045745
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703
NM_133433.4(NIPBL):c.1183C>T (p.Gln395Ter) rs587783882
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) rs80358349
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly) rs894352601
NM_133433.4(NIPBL):c.1297C>T (p.Gln433Ter) rs587783883
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.1376T>G (p.Ile459Arg) rs150837768
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) rs1554015303
NM_133433.4(NIPBL):c.1441_1442GA[2] (p.Arg482fs) rs80358382
NM_133433.4(NIPBL):c.1441_1442GA[3] (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.145G>T (p.Glu49Ter) rs587783886
NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu) rs587783887
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1496-8A>G rs797045747
NM_133433.4(NIPBL):c.150del (p.Asn51fs) rs1554011042
NM_133433.4(NIPBL):c.1514_1517del (p.Arg505fs) rs587783888
NM_133433.4(NIPBL):c.1547dup (p.Ala517fs) rs1554016981
NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter) rs587783889
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met) rs574981584
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890
NM_133433.4(NIPBL):c.169del (p.Arg57fs) rs1554011046
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser) rs144289137
NM_133433.4(NIPBL):c.1753del (p.Ile585fs) rs587783891
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446
NM_133433.4(NIPBL):c.1808del (p.Lys603fs) rs727503767
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter) rs587783892
NM_133433.4(NIPBL):c.192del (p.Gln64fs) rs80358364
NM_133433.4(NIPBL):c.1956dup (p.Gln653fs) rs1554017175
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
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.1992dup (p.Glu665fs) rs797045748
NM_133433.4(NIPBL):c.201_212del (p.His67_Asn70del) rs587783893
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471
NM_133433.4(NIPBL):c.2046del (p.Lys682fs) rs587783894
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152
NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro) rs587783895
NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter) rs587783896
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)
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.2256A>G (p.Glu752=) rs148075057
NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter) rs587783899
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.4(NIPBL):c.230+5G>A
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.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.2469A>G (p.Lys823=) rs293756
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu) rs587783904
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
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.2501G>A (p.Arg834Gln) rs757394370
NM_133433.4(NIPBL):c.2505G>T (p.Gly835=) rs587783908
NM_133433.4(NIPBL):c.2521C>T (p.Arg841Ter) rs797045752
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) rs1554017428
NM_133433.4(NIPBL):c.2595dup (p.Leu866fs) rs1554017441
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter) rs398124466
NM_133433.4(NIPBL):c.2711del (p.Arg904fs) rs587783909
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784
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.2856G>A (p.Ala952=) rs371566938
NM_133433.4(NIPBL):c.286_287insG (p.Leu96fs) rs797045753
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605
NM_133433.4(NIPBL):c.2903del (p.Asn968fs) rs587783912
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val) rs749926228
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978
NM_133433.4(NIPBL):c.2965dup (p.Ile989fs) rs797045754
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) rs121918264
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.4(NIPBL):c.3058_3059AG[1] (p.Glu1021fs) rs587783914
NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg)
NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met) rs1561119475
NM_133433.4(NIPBL):c.3103C>G (p.Pro1035Ala) rs587783915
NM_133433.4(NIPBL):c.3107C>G (p.Ser1036Ter) rs1554017661
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916
NM_133433.4(NIPBL):c.310_317del (p.Pro104fs) rs587783917
NM_133433.4(NIPBL):c.3121+11T>G rs457583
NM_133433.4(NIPBL):c.3122-2A>G rs587783918
NM_133433.4(NIPBL):c.3137C>A (p.Ser1046Ter) rs1554019663
NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter) rs1554019667
NM_133433.4(NIPBL):c.314dup (p.Asn105fs) rs797045755
NM_133433.4(NIPBL):c.3248del (p.Pro1083fs) rs1554019698
NM_133433.4(NIPBL):c.3253del (p.Tyr1085fs)
NM_133433.4(NIPBL):c.3264del (p.Ser1089fs) rs797045756
NM_133433.4(NIPBL):c.3304+1G>A rs1554019712
NM_133433.4(NIPBL):c.3304+5G>A rs80358356
NM_133433.4(NIPBL):c.3305-1G>T rs80358375
NM_133433.4(NIPBL):c.3322A>T (p.Lys1108Ter) rs587783919
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn) rs587783920
NM_133433.4(NIPBL):c.3369A>C (p.Arg1123Ser) rs140344071
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836
NM_133433.4(NIPBL):c.3425dup (p.Gly1143fs) rs1554020579
NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter) rs866740147
NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln) rs587783921
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter) rs80358374
NM_133433.4(NIPBL):c.3455C>G (p.Ser1152Ter)
NM_133433.4(NIPBL):c.345A>G (p.Arg115=) rs587783922
NM_133433.4(NIPBL):c.3461_3462del (p.Asp1153_Ser1154insTer) rs587783923
NM_133433.4(NIPBL):c.3487C>T (p.Pro1163Ser) rs761353689
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe) rs540365485
NM_133433.4(NIPBL):c.3503-9T>G rs587783924
NM_133433.4(NIPBL):c.3526_3530del (p.Glu1176fs) rs587783925
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854
NM_133433.4(NIPBL):c.3575-3C>G rs587783926
NM_133433.4(NIPBL):c.358+1G>T rs587783927
NM_133433.4(NIPBL):c.358+3G>C
NM_133433.4(NIPBL):c.358+5G>C rs587783928
NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del) rs121918266
NM_133433.4(NIPBL):c.3698T>G (p.Leu1233Ter) rs1554020997
NM_133433.4(NIPBL):c.3737C>G (p.Ala1246Gly) rs121918268
NM_133433.4(NIPBL):c.3786_3787TG[1] (p.Val1263fs) rs587783930
NM_133433.4(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del) rs587783931
NM_133433.4(NIPBL):c.3818T>G (p.Ile1273Ser) rs587783932
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser) rs143152112
NM_133433.4(NIPBL):c.3855+1G>A
NM_133433.4(NIPBL):c.3855+1G>T rs587783933
NM_133433.4(NIPBL):c.3855+5G>A rs80358378
NM_133433.4(NIPBL):c.3856-12A>C rs199847583
NM_133433.4(NIPBL):c.3856-7_3856-5del rs797045757
NM_133433.4(NIPBL):c.3866_3869del (p.Thr1289fs) rs587783934
NM_133433.4(NIPBL):c.3868G>A (p.Glu1290Lys) rs587783935
NM_133433.4(NIPBL):c.3868_3870GAA[3] (p.Glu1293del)
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter) rs587783936
NM_133433.4(NIPBL):c.3895del (p.Ile1300fs)
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.3923C>A (p.Ala1308Glu)
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.4041A>G (p.Thr1347=) rs373206831
NM_133433.4(NIPBL):c.4088-2A>T rs587783939
NM_133433.4(NIPBL):c.4098_4101del (p.Leu1366fs) rs587783940
NM_133433.4(NIPBL):c.4139_4140AG[2] (p.Arg1381fs) rs587783941
NM_133433.4(NIPBL):c.4203A>G (p.Leu1401=) rs1356246775
NM_133433.4(NIPBL):c.4240-14T>G rs298972
NM_133433.4(NIPBL):c.4240-1G>C rs587783942
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449
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+14A>G rs377381536
NM_133433.4(NIPBL):c.4320+1G>A rs587783945
NM_133433.4(NIPBL):c.4320+2dup rs797045758
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) rs749296628
NM_133433.4(NIPBL):c.4421+7A>G rs76297333
NM_133433.4(NIPBL):c.4421G>C (p.Arg1474Thr) rs587783947
NM_133433.4(NIPBL):c.4422G>T (p.Arg1474Ser) rs80358358
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg) rs1554022448
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.4495C>T (p.Gln1499Ter) rs797045760
NM_133433.4(NIPBL):c.4511T>A (p.Leu1504Ter) rs80358369
NM_133433.4(NIPBL):c.4529dup (p.Asp1510fs) rs797045761
NM_133433.4(NIPBL):c.4530_4531CT[1] (p.Asp1510_Ser1511insTer) rs797045762
NM_133433.4(NIPBL):c.4543G>T (p.Glu1515Ter) rs587783950
NM_133433.4(NIPBL):c.4550C>G (p.Ser1517Ter)
NM_133433.4(NIPBL):c.4561-9T>A rs79924167
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>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>C rs587783954
NM_133433.4(NIPBL):c.4663del (p.Glu1555fs) rs587783955
NM_133433.4(NIPBL):c.4684_4687del (p.Phe1562fs) rs587783957
NM_133433.4(NIPBL):c.4686del (p.Phe1562fs) rs1554023967
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys) rs780708835
NM_133433.4(NIPBL):c.4712C>A (p.Ser1571Ter) rs77632238
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654
NM_133433.4(NIPBL):c.4776+12G>A rs199632698
NM_133433.4(NIPBL):c.4804_4805GA[1] (p.Glu1602fs) rs80358372
NM_133433.4(NIPBL):c.4816_4817AG[1] (p.Arg1606fs) rs587783959
NM_133433.4(NIPBL):c.4829T>C (p.Leu1610Pro) rs1561164598
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.5011-1G>C rs1561169166
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.5167C>T (p.Arg1723Ter) rs121918267
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln) rs886060558
NM_133433.4(NIPBL):c.5174del (p.Lys1725fs) rs587783961
NM_133433.4(NIPBL):c.5214dup (p.Ser1739Ter) rs730880331
NM_133433.4(NIPBL):c.5327A>T (p.Gln1776Leu) rs587783966
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.5330T>G (p.Ile1777Ser) rs587783970
NM_133433.4(NIPBL):c.5335C>T (p.Arg1779Ter) rs587783971
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
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.5374G>C (p.Ala1792Pro) rs1554025675
NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg) rs483353060
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.5456G>A (p.Arg1819Gln) rs80358366
NM_133433.4(NIPBL):c.5464G>T (p.Asp1822Tyr) rs587783976
NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly) rs587783977
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.5566A>G (p.Arg1856Gly) rs80358373
NM_133433.4(NIPBL):c.5567G>T (p.Arg1856Ile) rs1554025796
NM_133433.4(NIPBL):c.5580dup (p.Gly1861fs) rs797045771
NM_133433.4(NIPBL):c.5679dup (p.Arg1894fs) rs797045772
NM_133433.4(NIPBL):c.5709+1G>A rs587783979
NM_133433.4(NIPBL):c.5709+2T>G rs587783980
NM_133433.4(NIPBL):c.5709+4G>A rs370325589
NM_133433.4(NIPBL):c.5710-13C>T rs562131143
NM_133433.4(NIPBL):c.5732A>C (p.Gln1911Pro) rs587783982
NM_133433.4(NIPBL):c.5737_5738CT[1] (p.Trp1914fs) rs797045773
NM_133433.4(NIPBL):c.5808+1G>A rs587783984
NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter) rs80358360
NM_133433.4(NIPBL):c.5862+1G>A rs587783985
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200
NM_133433.4(NIPBL):c.5921_5923TTG[1] (p.Val1975del) rs587783987
NM_133433.4(NIPBL):c.5923G>T (p.Val1975Phe) rs587783986
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu) rs370593530
NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter) rs587783988
NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe) rs1554030218
NM_133433.4(NIPBL):c.6037A>C (p.Ser2013Arg) rs587783989
NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn) rs1554030233
NM_133433.4(NIPBL):c.6067C>A (p.His2023Asn) rs587783990
NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg) rs587783991
NM_133433.4(NIPBL):c.6071C>A (p.Ala2024Glu) rs587783992
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.6108+7A>G rs587783995
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_133433.4(NIPBL):c.611-10T>C rs368836554
NM_133433.4(NIPBL):c.6158T>C (p.Leu2053Pro) rs587783997
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035
NM_133433.4(NIPBL):c.6170T>C (p.Leu2057Pro) rs587783998
NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln)
NM_133433.4(NIPBL):c.6182C>T (p.Pro2061Leu) rs587783999
NM_133433.4(NIPBL):c.6242G>T (p.Gly2081Val) rs587784000
NM_133433.4(NIPBL):c.6249+2dup rs797045776
NM_133433.4(NIPBL):c.6250G>T (p.Val2084Leu) rs587784002
NM_133433.4(NIPBL):c.6262_6263TG[1] (p.His2087_Cys2088insTer) rs1554031864
NM_133433.4(NIPBL):c.6266T>G (p.Val2089Gly) rs587784003
NM_133433.4(NIPBL):c.6315_6316TG[1] (p.Val2106fs) rs587784005
NM_133433.4(NIPBL):c.6316G>C (p.Val2106Leu) rs587784004
NM_133433.4(NIPBL):c.6343+5G>A rs80358383
NM_133433.4(NIPBL):c.6343G>A (p.Gly2115Ser) rs587784007
NM_133433.4(NIPBL):c.6362_6364del (p.Lys2121del) rs587784008
NM_133433.4(NIPBL):c.64+1G>A rs587784009
NM_133433.4(NIPBL):c.64+3A>C rs587784010
NM_133433.4(NIPBL):c.64+5G>A rs587784011
NM_133433.4(NIPBL):c.64+6T>A rs1554010766
NM_133433.4(NIPBL):c.6401_6404dup (p.Pro2138fs) rs1554032085
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp)
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690
NM_133433.4(NIPBL):c.65-3T>G rs727503768
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro) rs1561207924
NM_133433.4(NIPBL):c.6565C>T (p.Gln2189Ter) rs587784013
NM_133433.4(NIPBL):c.6568A>G (p.Thr2190Ala) rs587784014
NM_133433.4(NIPBL):c.6571A>T (p.Lys2191Ter) rs587784015
NM_133433.4(NIPBL):c.6589+5G>A rs1554032266
NM_133433.4(NIPBL):c.6589+9A>T rs370709104
NM_133433.4(NIPBL):c.6590-2A>C rs587784016
NM_133433.4(NIPBL):c.6590G>A (p.Gly2197Glu) rs587784017
NM_133433.4(NIPBL):c.6629_6631AAG[1] (p.Glu2211del) rs587784019
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.6644_6645TA[2] (p.Tyr2216_Asn2217delinsTer) rs587784021
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6647_6649ATA[2] (p.Asn2218del) rs587784022
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met)
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs) rs797045778
NM_133433.4(NIPBL):c.6769A>G (p.Lys2257Glu) rs947067048
NM_133433.4(NIPBL):c.678G>A (p.Pro226=) rs192822119
NM_133433.4(NIPBL):c.6796G>T (p.Glu2266Ter) rs1554032954
NM_133433.4(NIPBL):c.6800T>G (p.Met2267Arg) rs797045779
NM_133433.4(NIPBL):c.6811dup (p.Ser2271fs) rs797045780
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.6935G>T (p.Gly2312Val) rs587784025
NM_133433.4(NIPBL):c.6952C>T (p.Gln2318Ter) rs587784026
NM_133433.4(NIPBL):c.6954+1G>A rs587784027
NM_133433.4(NIPBL):c.6993A>G (p.Glu2331=) rs587784028
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.7024C>T (p.Leu2342Phe) rs587784031
NM_133433.4(NIPBL):c.7062+2T>C rs587784032
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>A (p.Gly2381Ser) rs587784035
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.7175G>A (p.Cys2392Tyr) rs886042231
NM_133433.4(NIPBL):c.7198del (p.Arg2400fs) rs587784037
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) rs398124471
NM_133433.4(NIPBL):c.7263+3A>G rs1554033589
NM_133433.4(NIPBL):c.7264-6T>G rs587784038
NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys) rs121918265
NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser) rs80358384
NM_133433.4(NIPBL):c.7306G>A (p.Ala2436Thr) rs587784039
NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs) rs1561222491
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter) rs80358370
NM_133433.4(NIPBL):c.7336_7338del (p.Pro2446del) rs587784040
NM_133433.4(NIPBL):c.7348_7350del (p.Met2450del) rs587784041
NM_133433.4(NIPBL):c.7362C>T (p.Asp2454=) rs886060559
NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly) rs587784042
NM_133433.4(NIPBL):c.7410+4A>G rs1561222738
NM_133433.4(NIPBL):c.7435_7436GA[2] (p.Arg2480fs) rs587784043
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val) rs1554034831
NM_133433.4(NIPBL):c.7524_7529TTCAGA[3] (p.2508_2509DS[3]) rs587784044
NM_133433.4(NIPBL):c.7625G>A (p.Gly2542Asp) rs587784045
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) rs727503772
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=) rs587784046
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.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.781T>G (p.Ser261Ala) rs16903425
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) rs1554035311
NM_133433.4(NIPBL):c.7839_7840TA[3] (p.Val2615Ter) rs797045784
NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu) rs886060560
NM_133433.4(NIPBL):c.7849C>T (p.Gln2617Ter) rs587784050
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.868G>A (p.Gly290Ser) rs1554014382
NM_133433.4(NIPBL):c.869-1G>A rs587784059
NM_133433.4(NIPBL):c.86del (p.Pro29fs) rs587784060
NM_133433.4(NIPBL):c.892C>T (p.Gln298Ter) rs587784062
NM_133433.4(NIPBL):c.892del (p.Gln298fs) rs587784063
NM_133433.4(NIPBL):c.894A>G (p.Gln298=) rs587784064
NM_133433.4(NIPBL):c.914C>A (p.Ser305Ter) rs727503770
NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter) rs587784065
Single allele

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