ClinVar Miner

List of variants in gene NIPBL studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 534
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.5575-168A>T rs3100685 0.99569
NM_133433.4(NIPBL):c.4239+53T>C rs159753 0.57773
NM_133433.4(NIPBL):c.6498+142A>G rs301859 0.57272
NM_133433.4(NIPBL):c.7860+141A>G rs188541 0.57014
NM_133433.4(NIPBL):c.5574+283G>A rs300061 0.56366
NM_133433.4(NIPBL):c.4921-59G>A rs300060 0.55914
NM_133433.4(NIPBL):c.5329-220T>C rs35701604 0.14166
NM_133433.4(NIPBL):c.4560+77A>G rs35011787 0.13874
NM_133433.4(NIPBL):c.3121+285T>C rs294695 0.13531
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200 0.13068
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471 0.12117
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_133433.4(NIPBL):c.3855+52A>G rs62654860 0.11985
NM_133433.4(NIPBL):c.4560+121C>T rs62654863 0.11452
NM_133433.4(NIPBL):c.5809-203C>A rs12187383 0.11408
NM_133433.4(NIPBL):c.5575-193T>C rs13181330 0.10455
NM_133433.4(NIPBL):c.4239+152C>G rs41270323 0.08603
NM_133433.4(NIPBL):c.3665-126T>C rs6876156 0.04979
NM_133433.4(NIPBL):c.4776+250A>G rs391366 0.04733
NM_133433.4(NIPBL):c.358+265A>G rs294691 0.04564
NM_133433.4(NIPBL):c.3305-304C>T rs159750 0.04238
NM_133433.4(NIPBL):c.3122-148G>A rs159754 0.04185
NM_133433.4(NIPBL):c.7263+153A>T rs300059 0.04130
NM_133433.4(NIPBL):c.4087+299T>A rs78477452 0.03664
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756 0.03533
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445 0.03530
NM_133433.4(NIPBL):c.6498+64T>A rs56745362 0.03524
NM_133433.4(NIPBL):c.5972-260A>T rs73750920 0.03351
NM_133433.4(NIPBL):c.3665-229A>G rs115419483 0.02668
NM_133433.4(NIPBL):c.4561-16C>T rs115403650 0.02404
NM_133433.4(NIPBL):c.611-238G>A rs77660289 0.02286
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_133433.4(NIPBL):c.7263+198G>A rs75847044 0.02009
NM_133433.4(NIPBL):c.4561-86C>T rs116554506 0.02006
NM_133433.4(NIPBL):c.7860+39G>A rs113168205 0.01992
NM_133433.4(NIPBL):c.5574+261T>A rs80290939 0.01929
NM_133433.4(NIPBL):c.4240-14T>G rs298972 0.01903
NM_133433.4(NIPBL):c.3304+121T>C rs75303479 0.01862
NM_133433.4(NIPBL):c.868+231C>T rs72734700 0.01735
NM_133433.4(NIPBL):c.4321-35T>C rs147490589 0.01706
NM_133433.4(NIPBL):c.5710-78G>A rs72736713 0.01661
NM_133433.4(NIPBL):c.231-149C>T rs111951890 0.01631
NM_133433.4(NIPBL):c.5011-62T>C rs16903455 0.01589
NM_133433.4(NIPBL):c.7685+117A>C rs191922218 0.01572
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425 0.01529
NM_133433.4(NIPBL):c.3665-98T>C rs73093870 0.01475
NM_133433.4(NIPBL):c.1495+272G>A rs72734702 0.01445
NM_133433.4(NIPBL):c.3769-239C>T rs562590457 0.01346
NM_133433.4(NIPBL):c.5809-69A>G rs150601525 0.01342
NM_133433.4(NIPBL):c.64+215C>T rs62356411 0.01135
NM_133433.4(NIPBL):c.5329-184A>G rs75558037 0.00991
NM_133433.4(NIPBL):c.231-339_231-338insA rs544705348 0.00982
NM_133433.4(NIPBL):c.3121+11T>G rs457583 0.00941
NM_133433.4(NIPBL):c.3855+73A>G rs115427786 0.00886
NM_133433.4(NIPBL):c.4239+266T>C rs114364442 0.00884
NM_133433.4(NIPBL):c.5329-33A>G rs116413344 0.00879
NM_133433.4(NIPBL):c.4239+40A>G rs80358379 0.00828
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854 0.00825
NM_133433.4(NIPBL):c.4421+198G>A rs148503852 0.00821
NM_133433.4(NIPBL):c.771+262G>A rs148719303 0.00819
NM_133433.4(NIPBL):c.7264-239C>G rs141035811 0.00792
NM_133433.4(NIPBL):c.5863-30A>G rs199888273 0.00781
NM_133433.4(NIPBL):c.868+201C>T rs149939731 0.00771
NM_133433.4(NIPBL):c.7063-184C>T rs189374331 0.00756
NM_133433.4(NIPBL):c.7861-104T>C rs185035203 0.00743
NM_133433.4(NIPBL):c.6498+91A>G rs115262535 0.00669
NM_133433.4(NIPBL):c.6108+120A>G rs114150525 0.00617
NM_133433.4(NIPBL):c.4421+205dup rs145915364 0.00587
NM_133433.4(NIPBL):c.5972-232C>T rs189837072 0.00497
NM_133433.4(NIPBL):c.6955-122C>G rs148036201 0.00426
NM_133433.4(NIPBL):c.4088-115C>T rs553494121 0.00386
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00363
NM_133433.4(NIPBL):c.7685+113G>A rs187250694 0.00352
NM_133433.4(NIPBL):c.5574+35T>C rs151178107 0.00350
NM_133433.4(NIPBL):c.3856-180T>C rs190326435 0.00347
NM_133433.4(NIPBL):c.5710-59A>G rs188805069 0.00339
NM_133433.4(NIPBL):c.4422-23C>T rs190647010 0.00325
NM_133433.4(NIPBL):c.-312T>A rs540966156 0.00284
NM_133433.4(NIPBL):c.7686-106T>G rs11948958 0.00272
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00267
NM_133433.4(NIPBL):c.5575-26T>G rs147563181 0.00232
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449 0.00229
NM_133433.4(NIPBL):c.4240-48C>T rs140932715 0.00209
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00183
NM_133433.4(NIPBL):c.6764-35C>G rs144405762 0.00144
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00134
NM_133433.4(NIPBL):c.1495+38C>A rs192155566 0.00105
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00093
NM_133433.4(NIPBL):c.7686-47G>A rs374602595 0.00092
NM_133433.4(NIPBL):c.2349A>G (p.Lys783=) rs141851878 0.00071
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=) rs148394805 0.00061
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00060
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=) rs148542094 0.00056
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=) rs145952190 0.00051
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) rs80358349 0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785 0.00047
NM_133433.4(NIPBL):c.804A>G (p.Ala268=) rs144238532 0.00042
NM_133433.4(NIPBL):c.5427+34C>T rs182380681 0.00041
NM_133433.4(NIPBL):c.*334G>A rs181989563 0.00037
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00034
NM_133433.4(NIPBL):c.5809-32C>A rs186880901 0.00033
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446 0.00029
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) rs371347218 0.00026
NM_133433.4(NIPBL):c.-415del rs1345465032 0.00023
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro) rs139819353 0.00023
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00017
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324 0.00016
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605 0.00016
NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser) rs560785308 0.00015
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_133433.4(NIPBL):c.2352A>G (p.Gln784=) rs61755038 0.00011
NM_133433.4(NIPBL):c.458+7T>C rs200829209 0.00009
NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=) rs146702130 0.00009
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser) rs190086412 0.00009
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala) rs185745349 0.00009
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=) rs147865925 0.00008
NM_133433.4(NIPBL):c.6590-9C>T rs201043922 0.00008
NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=) rs150369438 0.00007
NM_133433.4(NIPBL):c.3861C>T (p.Asn1287=) rs531615496 0.00007
NM_133433.4(NIPBL):c.2219G>A (p.Gly740Asp) rs148420552 0.00006
NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser) rs557147929 0.00006
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=) rs376448686 0.00006
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) rs587783913 0.00005
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu) rs562557528 0.00005
NM_133433.4(NIPBL):c.7793G>A (p.Arg2598Gln) rs199508078 0.00005
NM_133433.4(NIPBL):c.8049+30G>A rs777396886 0.00005
NM_133433.4(NIPBL):c.1986A>C (p.Lys662Asn) rs781213650 0.00004
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167 0.00004
NM_133433.4(NIPBL):c.3503-7G>A rs747762848 0.00004
NM_133433.4(NIPBL):c.3966C>G (p.Asn1322Lys) rs1229109955 0.00004
NM_133433.4(NIPBL):c.4906C>T (p.Arg1636Cys) rs149451089 0.00004
NM_133433.4(NIPBL):c.5472G>A (p.Ser1824=) rs369177620 0.00004
NM_133433.4(NIPBL):c.6674C>T (p.Ser2225Phe) rs750309699 0.00004
NM_133433.4(NIPBL):c.2228G>A (p.Arg743His) rs755001260 0.00003
NM_133433.4(NIPBL):c.5018G>A (p.Arg1673His) rs770286768 0.00003
NM_133433.4(NIPBL):c.5863-10G>A rs938697074 0.00003
NM_133433.4(NIPBL):c.126T>C (p.Phe42=) rs727504046 0.00002
NM_133433.4(NIPBL):c.2945C>T (p.Pro982Leu) rs886042816 0.00002
NM_133433.4(NIPBL):c.3112T>A (p.Ser1038Thr) rs747918239 0.00002
NM_133433.4(NIPBL):c.4683G>C (p.Leu1561=) rs756897581 0.00002
NM_133433.4(NIPBL):c.5772A>C (p.Glu1924Asp) rs771252680 0.00002
NM_133433.4(NIPBL):c.768T>C (p.Ser256=) rs747703764 0.00002
NM_133433.4(NIPBL):c.1017T>C (p.Ser339=) rs886043120 0.00001
NM_133433.4(NIPBL):c.1077A>G (p.Thr359=) rs767162047 0.00001
NM_133433.4(NIPBL):c.111A>G (p.Thr37=) rs576203422 0.00001
NM_133433.4(NIPBL):c.1144A>G (p.Asn382Asp) rs778853918 0.00001
NM_133433.4(NIPBL):c.1221A>G (p.Pro407=) rs886042232 0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 0.00001
NM_133433.4(NIPBL):c.1456A>G (p.Ile486Val) rs886044139 0.00001
NM_133433.4(NIPBL):c.1979A>G (p.Glu660Gly) rs867081982 0.00001
NM_133433.4(NIPBL):c.2081A>G (p.Glu694Gly) rs144812404 0.00001
NM_133433.4(NIPBL):c.2171C>T (p.Thr724Ile) rs886042385 0.00001
NM_133433.4(NIPBL):c.2261G>T (p.Arg754Leu) rs748268539 0.00001
NM_133433.4(NIPBL):c.2390G>A (p.Arg797Gln) rs758488035 0.00001
NM_133433.4(NIPBL):c.2423G>A (p.Arg808Gln) rs142574933 0.00001
NM_133433.4(NIPBL):c.2479A>G (p.Arg827Gly) rs1284101914 0.00001
NM_133433.4(NIPBL):c.2602C>A (p.Arg868=) rs398124466 0.00001
NM_133433.4(NIPBL):c.2703T>C (p.Asn901=) rs774346043 0.00001
NM_133433.4(NIPBL):c.2910T>C (p.Thr970=) rs1045615108 0.00001
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916 0.00001
NM_133433.4(NIPBL):c.3139G>T (p.Val1047Leu) rs1057522878 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_133433.4(NIPBL):c.3467T>C (p.Met1156Thr) rs914252297 0.00001
NM_133433.4(NIPBL):c.348T>C (p.Tyr116=) rs1419197381 0.00001
NM_133433.4(NIPBL):c.3516G>T (p.Met1172Ile) rs1746709380 0.00001
NM_133433.4(NIPBL):c.3533A>G (p.Gln1178Arg) rs772932503 0.00001
NM_133433.4(NIPBL):c.3630G>A (p.Leu1210=) rs372752190 0.00001
NM_133433.4(NIPBL):c.3659C>T (p.Ala1220Val) rs1360432003 0.00001
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=) rs143252734 0.00001
NM_133433.4(NIPBL):c.3742A>G (p.Ile1248Val) rs990243890 0.00001
NM_133433.4(NIPBL):c.3877G>A (p.Glu1293Lys) rs747050519 0.00001
NM_133433.4(NIPBL):c.4161T>C (p.Tyr1387=) rs752419634 0.00001
NM_133433.4(NIPBL):c.4493T>C (p.Ile1498Thr) rs199570957 0.00001
NM_133433.4(NIPBL):c.4516T>C (p.Ser1506Pro) rs1056274601 0.00001
NM_133433.4(NIPBL):c.4536T>C (p.Asn1512=) rs1747946623 0.00001
NM_133433.4(NIPBL):c.4546G>A (p.Asp1516Asn) rs1255194057 0.00001
NM_133433.4(NIPBL):c.4561-10T>C rs763125929 0.00001
NM_133433.4(NIPBL):c.461G>A (p.Arg154Gln) rs200692598 0.00001
NM_133433.4(NIPBL):c.4678C>T (p.Pro1560Ser) rs150683463 0.00001
NM_133433.4(NIPBL):c.4901T>C (p.Ile1634Thr) rs1343267889 0.00001
NM_133433.4(NIPBL):c.4907G>T (p.Arg1636Leu) rs886042731 0.00001
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=) rs758853244 0.00001
NM_133433.4(NIPBL):c.5786A>G (p.Lys1929Arg) rs374294679 0.00001
NM_133433.4(NIPBL):c.5843T>A (p.Phe1948Tyr) rs1085307579 0.00001
NM_133433.4(NIPBL):c.5863-18A>G rs1393586617 0.00001
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=) rs372730081 0.00001
NM_133433.4(NIPBL):c.6534G>A (p.Met2178Ile) rs774665042 0.00001
NM_133433.4(NIPBL):c.6557A>G (p.Glu2186Gly) rs398124469 0.00001
NM_133433.4(NIPBL):c.697A>G (p.Asn233Asp) rs727504038 0.00001
NM_133433.4(NIPBL):c.7111A>G (p.Ile2371Val) rs143355392 0.00001
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp) rs756243240 0.00001
NM_133433.4(NIPBL):c.7602C>T (p.Ile2534=) rs398124472 0.00001
NM_133433.4(NIPBL):c.772-8A>G rs398124473 0.00001
NM_133433.4(NIPBL):c.775G>A (p.Gly259Arg) rs1064794954 0.00001
NM_133433.4(NIPBL):c.7814A>G (p.Lys2605Arg) rs754514853 0.00001
NM_133433.4(NIPBL):c.7893T>C (p.Asp2631=) rs886042552 0.00001
NM_133433.4(NIPBL):c.8084C>T (p.Thr2695Met) rs766898203 0.00001
NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val) rs759899081 0.00001
GRCh37/hg19 5p13.2(chr5:36874777-36958323)x1
NM_133433.4(NIPBL):c.*282_*285del rs535770794
NM_133433.4(NIPBL):c.*460del rs768908921
NM_133433.4(NIPBL):c.-416dup rs886060553
NM_133433.4(NIPBL):c.-79-1563_-79-1534del rs1395841873
NM_133433.4(NIPBL):c.-79-1563_-79-1540del rs750839372
NM_133433.4(NIPBL):c.-79-1564GC[6] rs1554010277
NM_133433.4(NIPBL):c.-79-1569_-79-1562del rs1376905109
NM_133433.4(NIPBL):c.-79-1599TG[14] rs60067315
NM_133433.4(NIPBL):c.-79-1599TG[15] rs60067315
NM_133433.4(NIPBL):c.-79-1599TG[17] rs60067315
NM_133433.4(NIPBL):c.-79-1599TG[26] rs60067315
NM_133433.4(NIPBL):c.-80+5del rs532015680
NM_133433.4(NIPBL):c.1050_1051del (p.Pro351fs) rs1580372126
NM_133433.4(NIPBL):c.1225G>A (p.Asp409Asn)
NM_133433.4(NIPBL):c.1273C>G (p.Gln425Glu) rs1554015229
NM_133433.4(NIPBL):c.1332T>C (p.Ala444=) rs2479128190
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1345dup (p.Gln449fs) rs2479128379
NM_133433.4(NIPBL):c.1361A>C (p.Gln454Pro) rs752461981
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln) rs1017711925
NM_133433.4(NIPBL):c.1477_1479del (p.Lys493del)
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn) rs2479131200
NM_133433.4(NIPBL):c.1501C>G (p.Pro501Ala) rs2477916928
NM_133433.4(NIPBL):c.1510A>G (p.Lys504Glu)
NM_133433.4(NIPBL):c.1521A>C (p.Gln507His) rs1085307910
NM_133433.4(NIPBL):c.1538A>G (p.Glu513Gly)
NM_133433.4(NIPBL):c.1582A>T (p.Thr528Ser) rs794727009
NM_133433.4(NIPBL):c.1586G>T (p.Gly529Val)
NM_133433.4(NIPBL):c.1604C>T (p.Ser535Leu) rs754066837
NM_133433.4(NIPBL):c.1610C>A (p.Pro537Gln) rs2477918378
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter) rs1580394197
NM_133433.4(NIPBL):c.1677G>A (p.Gln559=) rs1580394271
NM_133433.4(NIPBL):c.1678G>C (p.Asp560His) rs2477919385
NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr) rs2477919385
NM_133433.4(NIPBL):c.1690A>G (p.Ile564Val) rs1267072334
NM_133433.4(NIPBL):c.1729C>T (p.Pro577Ser)
NM_133433.4(NIPBL):c.1805_1808del (p.Lys602fs)
NM_133433.4(NIPBL):c.1808del (p.Lys603fs) rs727503767
NM_133433.4(NIPBL):c.1808dup (p.Ser604fs) rs727503767
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter) rs587783892
NM_133433.4(NIPBL):c.1905A>G (p.Ser635=) rs1211776361
NM_133433.4(NIPBL):c.1909G>A (p.Glu637Lys)
NM_133433.4(NIPBL):c.1942_1954delinsCTT (p.Thr648fs) rs886041274
NM_133433.4(NIPBL):c.1961A>G (p.Asn654Ser)
NM_133433.4(NIPBL):c.200A>G (p.His67Arg) rs1388552505
NM_133433.4(NIPBL):c.2054A>G (p.Asp685Gly) rs1728431684
NM_133433.4(NIPBL):c.2060A>C (p.Lys687Thr)
NM_133433.4(NIPBL):c.209A>G (p.Asn70Ser) rs2149599601
NM_133433.4(NIPBL):c.2101G>A (p.Glu701Lys)
NM_133433.4(NIPBL):c.211C>A (p.Gln71Lys)
NM_133433.4(NIPBL):c.2129G>T (p.Arg710Leu)
NM_133433.4(NIPBL):c.2140C>T (p.Pro714Ser) rs2149644628
NM_133433.4(NIPBL):c.2159G>A (p.Gly720Glu)
NM_133433.4(NIPBL):c.215T>C (p.Val72Ala) rs2478987527
NM_133433.4(NIPBL):c.2214A>T (p.Gln738His) rs2477928336
NM_133433.4(NIPBL):c.2218_2250del (p.Gly740_Lys750del) rs761493578
NM_133433.4(NIPBL):c.2225G>A (p.Ser742Asn)
NM_133433.4(NIPBL):c.2297G>C (p.Arg766Thr) rs2477929572
NM_133433.4(NIPBL):c.231-103del rs141750225
NM_133433.4(NIPBL):c.231-104_231-103del rs141750225
NM_133433.4(NIPBL):c.231-105_231-103del rs141750225
NM_133433.4(NIPBL):c.2315del (p.Ser772fs) rs1064796481
NM_133433.4(NIPBL):c.2329C>A (p.Pro777Thr)
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter) rs587783901
NM_133433.4(NIPBL):c.2422C>T (p.Arg808Ter) rs587783902
NM_133433.4(NIPBL):c.2439A>C (p.Ser813=) rs886043800
NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs) rs1554017345
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter) rs587783907
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) rs1554017428
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter) rs398124466
NM_133433.4(NIPBL):c.2626dup (p.Asp876fs) rs398124467
NM_133433.4(NIPBL):c.2648C>T (p.Ser883Phe) rs2477935793
NM_133433.4(NIPBL):c.2650G>C (p.Gly884Arg) rs2477935822
NM_133433.4(NIPBL):c.2672A>G (p.Asp891Gly)
NM_133433.4(NIPBL):c.2743A>G (p.Ser915Gly) rs794727010
NM_133433.4(NIPBL):c.2802C>T (p.His934=) rs748966128
NM_133433.4(NIPBL):c.2841_2843del (p.Gly948del) rs1369177636
NM_133433.4(NIPBL):c.2868T>C (p.Phe956=) rs760895817
NM_133433.4(NIPBL):c.2902A>G (p.Asn968Asp)
NM_133433.4(NIPBL):c.2933T>C (p.Met978Thr) rs779638068
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) rs121918264
NM_133433.4(NIPBL):c.3002C>G (p.Pro1001Arg)
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs) rs587783914
NM_133433.4(NIPBL):c.3084dup (p.Lys1029Ter) rs1561119439
NM_133433.4(NIPBL):c.3122-1G>T rs2478030893
NM_133433.4(NIPBL):c.3122-22dup rs148066104
NM_133433.4(NIPBL):c.3122-281T>C rs182497470
NM_133433.4(NIPBL):c.3211A>G (p.Met1071Val) rs2149662599
NM_133433.4(NIPBL):c.3222_3223insT (p.Lys1075Ter) rs1746070254
NM_133433.4(NIPBL):c.3286A>G (p.Ser1096Gly) rs1746076024
NM_133433.4(NIPBL):c.3293A>C (p.Glu1098Ala)
NM_133433.4(NIPBL):c.3304+136dup rs146311166
NM_133433.4(NIPBL):c.3304T>G (p.Ser1102Ala)
NM_133433.4(NIPBL):c.3305-1G>A rs80358375
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter) rs2149668942
NM_133433.4(NIPBL):c.3369A>G (p.Arg1123=) rs140344071
NM_133433.4(NIPBL):c.3383A>G (p.His1128Arg) rs2149669068
NM_133433.4(NIPBL):c.3402_3403del (p.Ser1134_His1135insTer) rs2149669107
NM_133433.4(NIPBL):c.3410_3413del (p.Gly1137fs) rs1057518050
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter) rs80358374
NM_133433.4(NIPBL):c.3463G>A (p.Asp1155Asn)
NM_133433.4(NIPBL):c.3520A>G (p.Lys1174Glu) rs2478085477
NM_133433.4(NIPBL):c.3530A>G (p.Lys1177Arg) rs2478085756
NM_133433.4(NIPBL):c.359-1085A>G rs2479019698
NM_133433.4(NIPBL):c.359-1513G>A
NM_133433.4(NIPBL):c.359G>C (p.Gly120Ala) rs2149607016
NM_133433.4(NIPBL):c.3610G>A (p.Ala1204Thr)
NM_133433.4(NIPBL):c.3664+221G>A rs140470215
NM_133433.4(NIPBL):c.3666TGA[3] (p.Asp1225del) rs772674746
NM_133433.4(NIPBL):c.3708T>A (p.His1236Gln) rs1580442766
NM_133433.4(NIPBL):c.3709C>T (p.Gln1237Ter) rs2149672495
NM_133433.4(NIPBL):c.3769-240del rs371536615
NM_133433.4(NIPBL):c.3769-240dup rs371536615
NM_133433.4(NIPBL):c.3780C>A (p.Asp1260Glu) rs1445225565
NM_133433.4(NIPBL):c.3855+2T>C rs886043046
NM_133433.4(NIPBL):c.3855+4A>C rs1554021100
NM_133433.4(NIPBL):c.3856-3C>T rs2478145437
NM_133433.4(NIPBL):c.385del (p.Ser129fs) rs2479026857
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter) rs587783936
NM_133433.4(NIPBL):c.3914C>G (p.Thr1305Arg) rs1419407546
NM_133433.4(NIPBL):c.3931T>G (p.Cys1311Gly)
NM_133433.4(NIPBL):c.3938C>A (p.Thr1313Lys) rs886042218
NM_133433.4(NIPBL):c.3962C>G (p.Pro1321Arg) rs2478147269
NM_133433.4(NIPBL):c.3978T>C (p.Ala1326=) rs886043018
NM_133433.4(NIPBL):c.398T>C (p.Met133Thr) rs2479027150
NM_133433.4(NIPBL):c.4003A>G (p.Arg1335Gly)
NM_133433.4(NIPBL):c.4021A>G (p.Lys1341Glu) rs1212163125
NM_133433.4(NIPBL):c.40dup (p.Ala14fs) rs886041275
NM_133433.4(NIPBL):c.4170T>A (p.Val1390=) rs1279145652
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_133433.4(NIPBL):c.4240G>C (p.Val1414Leu) rs2478165788
NM_133433.4(NIPBL):c.4253G>A (p.Gly1418Glu) rs1554022000
NM_133433.4(NIPBL):c.4284T>C (p.Ser1428=) rs2149678866
NM_133433.4(NIPBL):c.4291C>T (p.Gln1431Ter) rs1747653910
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.4333T>C (p.Tyr1445His) rs2478173528
NM_133433.4(NIPBL):c.4359G>C (p.Leu1453Phe) rs2478173813
NM_133433.4(NIPBL):c.4366A>G (p.Ile1456Val) rs2478173884
NM_133433.4(NIPBL):c.43G>A (p.Gly15Arg)
NM_133433.4(NIPBL):c.4422-12del rs797045759
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg) rs1554022448
NM_133433.4(NIPBL):c.444A>C (p.Ser148=) rs2479027605
NM_133433.4(NIPBL):c.4472C>T (p.Thr1491Ile) rs2478190217
NM_133433.4(NIPBL):c.4512dup (p.Pro1505fs) rs1554022466
NM_133433.4(NIPBL):c.4520C>T (p.Ser1507Leu) rs794727348
NM_133433.4(NIPBL):c.4524_4534delinsAG (p.Lys1509_Asn1512delinsAsp) rs2478191103
NM_133433.4(NIPBL):c.4560+5G>C
NM_133433.4(NIPBL):c.4561-2A>G rs1057524427
NM_133433.4(NIPBL):c.4561del (p.Ile1521fs) rs754929654
NM_133433.4(NIPBL):c.4573G>A (p.Val1525Ile) rs1351097452
NM_133433.4(NIPBL):c.4602T>A (p.Ala1534=) rs968768950
NM_133433.4(NIPBL):c.4602T>C (p.Ala1534=) rs968768950
NM_133433.4(NIPBL):c.4643+1_4643+10del rs2149688682
NM_133433.4(NIPBL):c.4643+2T>G
NM_133433.4(NIPBL):c.4644-287G>A rs72736710
NM_133433.4(NIPBL):c.4714A>G (p.Thr1572Ala) rs943147398
NM_133433.4(NIPBL):c.4735C>T (p.Pro1579Ser)
NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer) rs1554024009
NM_133433.4(NIPBL):c.4787_4791del (p.Gln1595_Phe1596insTer) rs886041810
NM_133433.4(NIPBL):c.4810_4817dup (p.Arg1606_Val1607insLeuTer) rs2149692104
NM_133433.4(NIPBL):c.4826C>A (p.Ser1609Tyr) rs2478279676
NM_133433.4(NIPBL):c.4852_4855delinsT (p.Ala1618_Arg1619delinsTrp) rs2478279984
NM_133433.4(NIPBL):c.5009T>G (p.Val1670Gly) rs2149695130
NM_133433.4(NIPBL):c.5051C>T (p.Thr1684Ile) rs774109272
NM_133433.4(NIPBL):c.507G>T (p.Gln169His) rs2149607854
NM_133433.4(NIPBL):c.5225+2_5225+5del rs2478318314
NM_133433.4(NIPBL):c.5225A>G (p.Lys1742Arg) rs2149696733
NM_133433.4(NIPBL):c.5241T>A (p.Thr1747=)
NM_133433.4(NIPBL):c.5249A>G (p.Tyr1750Cys) rs374265736
NM_133433.4(NIPBL):c.5262C>A (p.Cys1754Ter) rs1554025252
NM_133433.4(NIPBL):c.527G>C (p.Ser176Thr) rs2149607878
NM_133433.4(NIPBL):c.5328+315G>T rs13183090
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.5336G>A (p.Arg1779Gln) rs2478336848
NM_133433.4(NIPBL):c.5345G>C (p.Gly1782Ala) rs2478336973
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.5372A>G (p.Lys1791Arg) rs1447433878
NM_133433.4(NIPBL):c.5396TTG[1] (p.Val1800del) rs2149698896
NM_133433.4(NIPBL):c.5427+3A>G rs1363419528
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.5465A>G (p.Asp1822Gly) rs587783977
NM_133433.4(NIPBL):c.5482C>T (p.Arg1828Ter) rs62654864
NM_133433.4(NIPBL):c.5509C>T (p.Arg1837Ter) rs1554025780
NM_133433.4(NIPBL):c.5549A>G (p.Tyr1850Cys)
NM_133433.4(NIPBL):c.5574+298T>C rs16903456
NM_133433.4(NIPBL):c.5575-1G>A rs1750049152
NM_133433.4(NIPBL):c.5681G>T (p.Arg1894Leu) rs2149702419
NM_133433.4(NIPBL):c.5689_5691del (p.Asn1897del) rs2478366575
NM_133433.4(NIPBL):c.5710-13_5710-12delinsAA rs1064794606
NM_133433.4(NIPBL):c.5808+2T>G rs794727556
NM_133433.4(NIPBL):c.5822_5834del (p.Arg1941fs) rs2149706056
NM_133433.4(NIPBL):c.5829dup (p.Gly1944fs) rs1554027083
NM_133433.4(NIPBL):c.5862+75dup rs75728277
NM_133433.4(NIPBL):c.5863-31TA[11] rs10554564
NM_133433.4(NIPBL):c.5863-31TA[12] rs10554564
NM_133433.4(NIPBL):c.5863-31TA[9] rs10554564
NM_133433.4(NIPBL):c.5863-31_5863-30insGTATATATATAT rs767653666
NM_133433.4(NIPBL):c.5863-52del rs202003424
NM_133433.4(NIPBL):c.5891A>G (p.Tyr1964Cys) rs1467853729
NM_133433.4(NIPBL):c.592del (p.His198fs) rs886043629
NM_133433.4(NIPBL):c.5930A>G (p.Asn1977Ser)
NM_133433.4(NIPBL):c.5954A>G (p.Tyr1985Cys) rs1751709545
NM_133433.4(NIPBL):c.5972-186_5972-185insATGT rs2307857
NM_133433.4(NIPBL):c.6065A>G (p.Lys2022Arg) rs886044634
NM_133433.4(NIPBL):c.6069T>C (p.His2023=) rs1561196903
NM_133433.4(NIPBL):c.606A>T (p.Gln202His) rs1233849776
NM_133433.4(NIPBL):c.6070G>C (p.Ala2024Pro) rs1064794672
NM_133433.4(NIPBL):c.6082C>T (p.Gln2028Ter) rs886044351
NM_133433.4(NIPBL):c.6108+1G>C rs587783994
NM_133433.4(NIPBL):c.6108+5G>A rs1057518091
NM_133433.4(NIPBL):c.6156G>C (p.Glu2052Asp) rs886039531
NM_133433.4(NIPBL):c.6156G>T (p.Glu2052Asp) rs886039531
NM_133433.4(NIPBL):c.6163G>A (p.Val2055Ile) rs2478576297
NM_133433.4(NIPBL):c.6194T>C (p.Phe2065Ser) rs2149730877
NM_133433.4(NIPBL):c.6206T>A (p.Ile2069Asn)
NM_133433.4(NIPBL):c.6227TCA[2] (p.Ile2078del) rs1554031820
NM_133433.4(NIPBL):c.6243C>T (p.Gly2081=) rs1131691272
NM_133433.4(NIPBL):c.6285T>G (p.Val2095=) rs886044532
NM_133433.4(NIPBL):c.6290A>G (p.Asn2097Ser) rs2149731340
NM_133433.4(NIPBL):c.6301C>T (p.Gln2101Ter)
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu) rs587784004
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_133433.4(NIPBL):c.6343+276_6343+284del rs150726162
NM_133433.4(NIPBL):c.6344-318G>T rs185737095
NM_133433.4(NIPBL):c.64+5G>A rs587784011
NM_133433.4(NIPBL):c.6440T>C (p.Val2147Ala) rs2478588532
NM_133433.4(NIPBL):c.6452G>A (p.Cys2151Tyr) rs2478588702
NM_133433.4(NIPBL):c.6498+4_6498+9del rs1167724948
NM_133433.4(NIPBL):c.653T>C (p.Ile218Thr) rs2479088975
NM_133433.4(NIPBL):c.6548A>G (p.His2183Arg) rs2478597552
NM_133433.4(NIPBL):c.6558A>G (p.Glu2186=) rs794727606
NM_133433.4(NIPBL):c.656A>G (p.His219Arg) rs2149619986
NM_133433.4(NIPBL):c.6576dup (p.Ile2193fs) rs1752962580
NM_133433.4(NIPBL):c.6589+5G>A rs1554032266
NM_133433.4(NIPBL):c.6595G>C (p.Ala2199Pro) rs794727614
NM_133433.4(NIPBL):c.6604C>A (p.Gln2202Lys) rs1753197620
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del) rs587784022
NM_133433.4(NIPBL):c.6658T>G (p.Leu2220Val) rs2149736998
NM_133433.4(NIPBL):c.6698T>C (p.Val2233Ala)
NM_133433.4(NIPBL):c.6701T>G (p.Leu2234Ter) rs727504047
NM_133433.4(NIPBL):c.6712del (p.Gln2238fs) rs1554032826
NM_133433.4(NIPBL):c.6726AGA[2] (p.Glu2244del) rs2149737108
NM_133433.4(NIPBL):c.6760_6761del (p.Asp2254fs) rs2149737142
NM_133433.4(NIPBL):c.6763T>A (p.Trp2255Arg) rs794727613
NM_133433.4(NIPBL):c.6764-164AC[11] rs56972789
NM_133433.4(NIPBL):c.6764-164AC[13] rs56972789
NM_133433.4(NIPBL):c.6764-164AC[14] rs56972789
NM_133433.4(NIPBL):c.6845A>G (p.Tyr2282Cys) rs1057524102
NM_133433.4(NIPBL):c.6886A>T (p.Ser2296Cys) rs1401102641
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.6919T>C (p.Leu2307=) rs1579572689
NM_133433.4(NIPBL):c.6921G>C (p.Leu2307Phe) rs1579572703
NM_133433.4(NIPBL):c.6922A>T (p.Thr2308Ser) rs2149737947
NM_133433.4(NIPBL):c.6945T>C (p.His2315=) rs1579572757
NM_133433.4(NIPBL):c.6954+3A>C
NM_133433.4(NIPBL):c.6955-8dup rs1482921708
NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu) rs1064796744
NM_133433.4(NIPBL):c.6981C>T (p.Gly2327=) rs1554033395
NM_133433.4(NIPBL):c.6988C>A (p.Pro2330Thr) rs764147606
NM_133433.4(NIPBL):c.700_705del (p.His234_His235del) rs779093227
NM_133433.4(NIPBL):c.7012G>A (p.Ala2338Thr)
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7023A>C (p.Gln2341His) rs781090000
NM_133433.4(NIPBL):c.7047T>G (p.Tyr2349Ter) rs398124470
NM_133433.4(NIPBL):c.7166G>T (p.Ser2389Ile) rs371336448
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.4(NIPBL):c.7168G>T (p.Ala2390Ser) rs587784036
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr) rs886042231
NM_133433.4(NIPBL):c.7198C>T (p.Arg2400Cys) rs2478658757
NM_133433.4(NIPBL):c.7208G>A (p.Arg2403His) rs2478658915
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) rs398124471
NM_133433.4(NIPBL):c.7263+4A>G
NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser) rs80358384
NM_133433.4(NIPBL):c.731G>A (p.Ser244Asn) rs2479089623
NM_133433.4(NIPBL):c.7330G>A (p.Glu2444Lys) rs1554034440
NM_133433.4(NIPBL):c.7346T>C (p.Ile2449Thr)
NM_133433.4(NIPBL):c.7373_7374del (p.Ser2458fs) rs2478700673
NM_133433.4(NIPBL):c.7379C>G (p.Ser2460Cys) rs1561222713
NM_133433.4(NIPBL):c.7410+10A>C rs1579599980
NM_133433.4(NIPBL):c.7410+4A>G rs1561222738
NM_133433.4(NIPBL):c.7427A>G (p.Lys2476Arg) rs1421392587
NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs) rs587784043
NM_133433.4(NIPBL):c.7449A>G (p.Ser2483=) rs1579605088
NM_133433.4(NIPBL):c.7475A>G (p.Asp2492Gly)
NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del) rs765215110
NM_133433.4(NIPBL):c.7593T>C (p.Ala2531=) rs113072270
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) rs727503772
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.771+244dup rs11464185
NM_133433.4(NIPBL):c.771+2T>A rs1131691967
NM_133433.4(NIPBL):c.7736C>T (p.Ala2579Val)
NM_133433.4(NIPBL):c.7744C>A (p.Arg2582=)
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs) rs80358368
NM_133433.4(NIPBL):c.7855del (p.Tyr2618_Leu2619insTer) rs1554035316
NM_133433.4(NIPBL):c.7861-2del rs886039468
NM_133433.4(NIPBL):c.7867C>G (p.Leu2623Val) rs1030959034
NM_133433.4(NIPBL):c.7915G>A (p.Val2639Ile)
NM_133433.4(NIPBL):c.8105A>C (p.Asn2702Thr) rs2478768984
NM_133433.4(NIPBL):c.8148A>G (p.Pro2716=) rs1579633711
NM_133433.4(NIPBL):c.8152_8158del (p.Tyr2718fs) rs1579633695
NM_133433.4(NIPBL):c.8166A>G (p.Pro2722=) rs727504048
NM_133433.4(NIPBL):c.8170_8172del (p.Ile2724del)
NM_133433.4(NIPBL):c.823C>T (p.Pro275Ser) rs1338771497
NM_133433.4(NIPBL):c.8243G>A (p.Trp2748Ter) rs2478770513
NM_133433.4(NIPBL):c.8246C>A (p.Thr2749Asn)
NM_133433.4(NIPBL):c.8270G>T (p.Arg2757Leu) rs868294395
NM_133433.4(NIPBL):c.8274dup (p.Leu2759fs) rs1554036165
NM_133433.4(NIPBL):c.8334A>G (p.Leu2778=)
NM_133433.4(NIPBL):c.8336C>T (p.Thr2779Met) rs587784057
NM_133433.4(NIPBL):c.834A>G (p.Val278=) rs377714862
NM_133433.4(NIPBL):c.8366T>C (p.Val2789Ala)
NM_133433.4(NIPBL):c.8368C>T (p.Gln2790Ter) rs2149761269
NM_133433.4(NIPBL):c.8369_8390dup (p.Ala2798fs)
NM_133433.4(NIPBL):c.8374_8375del (p.Leu2792fs) rs2149761277
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter) rs398124474
NM_133433.4(NIPBL):c.8384dup (p.Tyr2796fs) rs1554036216
NM_133433.4(NIPBL):c.8414A>C (p.Ter2805Ser) rs778876578
NM_133433.4(NIPBL):c.868+66T>G rs115891600
NM_133433.4(NIPBL):c.878C>T (p.Pro293Leu) rs2479122681
NM_133433.4(NIPBL):c.894A>G (p.Gln298=) rs587784064
NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter) rs587784065
NM_133433.4(NIPBL):c.927delinsACA (p.Asp309fs) rs1561101302
NM_133433.4(NIPBL):c.967C>G (p.Gln323Glu) rs2479123641

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