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: 525
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.5575-168A>T rs3100685 0.99637
NM_133433.4(NIPBL):c.4239+53T>C rs159753 0.57773
NM_133433.4(NIPBL):c.7860+141A>G rs188541 0.57297
NM_133433.4(NIPBL):c.6498+142A>G rs301859 0.57272
NM_133433.4(NIPBL):c.5574+283G>A rs300061 0.56706
NM_133433.4(NIPBL):c.4921-59G>A rs300060 0.55914
NM_133433.4(NIPBL):c.4560+77A>G rs35011787 0.13874
NM_133433.4(NIPBL):c.5329-220T>C rs35701604 0.13534
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 0.11377
NM_133433.4(NIPBL):c.5809-203C>A rs12187383 0.11338
NM_133433.4(NIPBL):c.5575-193T>C rs13181330 0.10455
NM_133433.4(NIPBL):c.4239+152C>G rs41270323 0.08795
NM_133433.4(NIPBL):c.3665-126T>C rs6876156 0.05319
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 0.04563
NM_133433.4(NIPBL):c.3122-148G>A rs159754 0.04505
NM_133433.4(NIPBL):c.7263+153A>T rs300059 0.04458
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 0.02771
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.7263+198G>A rs75847044 0.02107
NM_133433.4(NIPBL):c.4561-86C>T rs116554506 0.02104
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_133433.4(NIPBL):c.7860+39G>A rs113168205 0.02083
NM_133433.4(NIPBL):c.3304+121T>C rs75303479 0.01948
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.5011-62T>C rs16903455 0.01709
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.868+231C>T rs72734700 0.01660
NM_133433.4(NIPBL):c.231-149C>T rs111951890 0.01631
NM_133433.4(NIPBL):c.7685+117A>C rs191922218 0.01572
NM_133433.4(NIPBL):c.3665-98T>C rs73093870 0.01563
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425 0.01529
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 0.01066
NM_133433.4(NIPBL):c.231-339_231-338insA rs544705348 0.01056
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+40A>G rs80358379 0.00885
NM_133433.4(NIPBL):c.4239+266T>C rs114364442 0.00884
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854 0.00882
NM_133433.4(NIPBL):c.5329-33A>G rs116413344 0.00879
NM_133433.4(NIPBL):c.4421+198G>A rs148503852 0.00878
NM_133433.4(NIPBL):c.7264-239C>G rs141035811 0.00850
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.5972-232C>T rs189837072 0.00533
NM_133433.4(NIPBL):c.6955-122C>G rs148036201 0.00455
NM_133433.4(NIPBL):c.4088-115C>T rs553494121 0.00386
NM_133433.4(NIPBL):c.5574+35T>C rs151178107 0.00380
NM_133433.4(NIPBL):c.3856-180T>C rs190326435 0.00372
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_133433.4(NIPBL):c.5710-59A>G rs188805069 0.00364
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_133433.4(NIPBL):c.7685+113G>A rs187250694 0.00352
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.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_133433.4(NIPBL):c.7686-106T>G rs11948958 0.00272
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 0.00196
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_133433.4(NIPBL):c.6764-35C>G rs144405762 0.00144
NM_133433.4(NIPBL):c.1495+38C>A rs192155566 0.00105
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_133433.4(NIPBL):c.7686-47G>A rs374602595 0.00092
NM_133433.4(NIPBL):c.2349A>G (p.Lys783=) rs141851878 0.00076
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=) rs148394805 0.00064
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
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 0.00046
NM_133433.4(NIPBL):c.5427+34C>T rs182380681 0.00044
NM_133433.4(NIPBL):c.*334G>A rs181989563 0.00040
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_133433.4(NIPBL):c.5809-32C>A rs186880901 0.00033
NM_133433.4(NIPBL):c.1986A>C (p.Lys662Asn) rs781213650 0.00031
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.5101T>C (p.Ser1701Pro) rs139819353 0.00024
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00019
NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser) rs560785308 0.00016
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605 0.00016
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.6312A>G (p.Lys2104=) rs147865925 0.00008
NM_133433.4(NIPBL):c.6590-9C>T rs201043922 0.00008
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser) rs190086412 0.00007
NM_133433.4(NIPBL):c.111A>G (p.Thr37=) rs576203422 0.00006
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324 0.00006
NM_133433.4(NIPBL):c.2219G>A (p.Gly740Asp) rs148420552 0.00006
NM_133433.4(NIPBL):c.3861C>T (p.Asn1287=) rs531615496 0.00006
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=) rs376448686 0.00006
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala) rs185745349 0.00006
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167 0.00004
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) rs587783913 0.00004
NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser) rs557147929 0.00004
NM_133433.4(NIPBL):c.3503-7G>A rs747762848 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.4683G>C (p.Leu1561=) rs756897581 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.1017T>C (p.Ser339=) rs886043120 0.00001
NM_133433.4(NIPBL):c.1077A>G (p.Thr359=) rs767162047 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.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.2423G>A (p.Arg808Gln) rs142574933 0.00001
NM_133433.4(NIPBL):c.2479A>G (p.Arg827Gly) rs1284101914 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.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.4161T>C (p.Tyr1387=) rs752419634 0.00001
NM_133433.4(NIPBL):c.4516T>C (p.Ser1506Pro) rs1056274601 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.5863-18A>G rs1393586617 0.00001
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=) rs372730081 0.00001
NM_133433.4(NIPBL):c.6557A>G (p.Glu2186Gly) rs398124469 0.00001
NM_133433.4(NIPBL):c.7111A>G (p.Ile2371Val) rs143355392 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.7893T>C (p.Asp2631=) rs886042552 0.00001
NM_133433.4(NIPBL):c.8084C>T (p.Thr2695Met) rs766898203 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.-415del
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
NM_133433.4(NIPBL):c.-79-1564GC[6] rs1554010277
NM_133433.4(NIPBL):c.-79-1569_-79-1562del
NM_133433.4(NIPBL):c.-79-1599TG[14]
NM_133433.4(NIPBL):c.-79-1599TG[15]
NM_133433.4(NIPBL):c.-79-1599TG[17]
NM_133433.4(NIPBL):c.-79-1599TG[26]
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=)
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1345dup (p.Gln449fs)
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.1456A>G (p.Ile486Val) rs886044139
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)
NM_133433.4(NIPBL):c.1501C>G (p.Pro501Ala)
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)
NM_133433.4(NIPBL):c.1610C>A (p.Pro537Gln)
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)
NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr)
NM_133433.4(NIPBL):c.1690A>G (p.Ile564Val)
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)
NM_133433.4(NIPBL):c.2214A>T (p.Gln738His)
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.2228G>A (p.Arg743His)
NM_133433.4(NIPBL):c.2297G>C (p.Arg766Thr)
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.2390G>A (p.Arg797Gln)
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>A (p.Arg868=) rs398124466
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)
NM_133433.4(NIPBL):c.2650G>C (p.Gly884Arg)
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.3060_3063del (p.Glu1021fs) rs587783914
NM_133433.4(NIPBL):c.3084dup (p.Lys1029Ter) rs1561119439
NM_133433.4(NIPBL):c.3122-1G>T
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)
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.3453G>A (p.Pro1151=)
NM_133433.4(NIPBL):c.3463G>A (p.Asp1155Asn)
NM_133433.4(NIPBL):c.3467T>C (p.Met1156Thr) rs914252297
NM_133433.4(NIPBL):c.348T>C (p.Tyr116=)
NM_133433.4(NIPBL):c.3516G>T (p.Met1172Ile) rs1746709380
NM_133433.4(NIPBL):c.3520A>G (p.Lys1174Glu)
NM_133433.4(NIPBL):c.3530A>G (p.Lys1177Arg)
NM_133433.4(NIPBL):c.3533A>G (p.Gln1178Arg)
NM_133433.4(NIPBL):c.359-1085A>G
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.3742A>G (p.Ile1248Val)
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)
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
NM_133433.4(NIPBL):c.385del (p.Ser129fs)
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter) rs587783936
NM_133433.4(NIPBL):c.3877G>A (p.Glu1293Lys)
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)
NM_133433.4(NIPBL):c.3966C>G (p.Asn1322Lys)
NM_133433.4(NIPBL):c.3978T>C (p.Ala1326=) rs886043018
NM_133433.4(NIPBL):c.398T>C (p.Met133Thr)
NM_133433.4(NIPBL):c.4003A>G (p.Arg1335Gly)
NM_133433.4(NIPBL):c.4021A>G (p.Lys1341Glu)
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)
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)
NM_133433.4(NIPBL):c.4359G>C (p.Leu1453Phe)
NM_133433.4(NIPBL):c.4366A>G (p.Ile1456Val)
NM_133433.4(NIPBL):c.43G>A (p.Gly15Arg)
NM_133433.4(NIPBL):c.4421+205dup
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=)
NM_133433.4(NIPBL):c.4472C>T (p.Thr1491Ile)
NM_133433.4(NIPBL):c.4493T>C (p.Ile1498Thr) rs199570957
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)
NM_133433.4(NIPBL):c.4536T>C (p.Asn1512=)
NM_133433.4(NIPBL):c.4546G>A (p.Asp1516Asn)
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=)
NM_133433.4(NIPBL):c.4602T>C (p.Ala1534=)
NM_133433.4(NIPBL):c.4643+1_4643+10del rs2149688682
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)
NM_133433.4(NIPBL):c.4852_4855delinsT (p.Ala1618_Arg1619delinsTrp)
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
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)
NM_133433.4(NIPBL):c.5345G>C (p.Gly1782Ala)
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)
NM_133433.4(NIPBL):c.5710-13_5710-12delinsAA rs1064794606
NM_133433.4(NIPBL):c.5772A>C (p.Glu1924Asp)
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.5843T>A (p.Phe1948Tyr) rs1085307579
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)
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)
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)
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)
NM_133433.4(NIPBL):c.6452G>A (p.Cys2151Tyr)
NM_133433.4(NIPBL):c.6498+4_6498+9del rs1167724948
NM_133433.4(NIPBL):c.6534G>A (p.Met2178Ile)
NM_133433.4(NIPBL):c.653T>C (p.Ile218Thr)
NM_133433.4(NIPBL):c.6548A>G (p.His2183Arg)
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.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.677C>T (p.Pro226Leu)
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)
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.697A>G (p.Asn233Asp) rs727504038
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>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7023A>C (p.Gln2341His)
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)
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr) rs886042231
NM_133433.4(NIPBL):c.7198C>T (p.Arg2400Cys)
NM_133433.4(NIPBL):c.7208G>A (p.Arg2403His)
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)
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)
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)
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.7462A>G (p.Asn2488Asp)
NM_133433.4(NIPBL):c.7475A>G (p.Asp2492Gly)
NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del)
NM_133433.4(NIPBL):c.7593T>C (p.Ala2531=)
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) rs727503772
NM_133433.4(NIPBL):c.768T>C (p.Ser256=)
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.771+244dup rs11464185
NM_133433.4(NIPBL):c.771+262G>A rs148719303
NM_133433.4(NIPBL):c.771+2T>A rs1131691967
NM_133433.4(NIPBL):c.7736C>T (p.Ala2579Val)
NM_133433.4(NIPBL):c.775G>A (p.Gly259Arg) rs1064794954
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs) rs80358368
NM_133433.4(NIPBL):c.7793G>A (p.Arg2598Gln)
NM_133433.4(NIPBL):c.7814A>G (p.Lys2605Arg)
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.8049+30G>A
NM_133433.4(NIPBL):c.8105A>C (p.Asn2702Thr)
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.823C>T (p.Pro275Ser)
NM_133433.4(NIPBL):c.8243G>A (p.Trp2748Ter)
NM_133433.4(NIPBL):c.8270G>T (p.Arg2757Leu) rs868294395
NM_133433.4(NIPBL):c.8274dup (p.Leu2759fs) rs1554036165
NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val)
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)
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.