ClinVar Miner

List of variants in gene NIPBL reported as likely benign for Cornelia de Lange syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 404
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
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.-312T>A rs540966156 0.00284
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00134
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00060
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.5709+4G>A rs370325589 0.00047
NM_133433.4(NIPBL):c.7807A>T (p.Asn2603Tyr) rs138514909 0.00041
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_133433.4(NIPBL):c.5011-13A>G rs13177643 0.00036
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00034
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 0.00023
NM_133433.4(NIPBL):c.1807A>C (p.Lys603Gln) rs138828510 0.00021
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=) rs116049172 0.00019
NM_133433.4(NIPBL):c.1797A>G (p.Thr599=) rs140891645 0.00018
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00017
NM_133433.4(NIPBL):c.3665-10G>A rs200744764 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.2673C>T (p.Asp891=) rs376637245 0.00015
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=) rs139177541 0.00014
NM_133433.4(NIPBL):c.5226-11T>C rs375923130 0.00014
NM_133433.4(NIPBL):c.1321A>G (p.Thr441Ala) rs144853101 0.00013
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951 0.00013
NM_133433.4(NIPBL):c.2352A>G (p.Gln784=) rs61755038 0.00011
NM_133433.4(NIPBL):c.3856-18A>G rs374094831 0.00011
NM_133433.4(NIPBL):c.4560+19G>A rs201403933 0.00011
NM_133433.4(NIPBL):c.458+17del rs767864179 0.00011
NM_133433.4(NIPBL):c.4776+12G>A rs199632698 0.00011
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_133433.4(NIPBL):c.6390C>T (p.Asn2130=) rs141545751 0.00011
NM_133433.4(NIPBL):c.1026G>A (p.Ala342=) rs370389105 0.00010
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703 0.00009
NM_133433.4(NIPBL):c.1263G>A (p.Ser421=) rs777731868 0.00009
NM_133433.4(NIPBL):c.2187T>A (p.Gly729=) rs756935314 0.00009
NM_133433.4(NIPBL):c.458+7T>C rs200829209 0.00009
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser) rs190086412 0.00009
NM_133433.4(NIPBL):c.6589+9A>T rs370709104 0.00009
NM_133433.4(NIPBL):c.7872C>T (p.Leu2624=) rs146209296 0.00009
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) rs749296628 0.00008
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.2105C>T (p.Thr702Ile) rs372162252 0.00007
NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=) rs150369438 0.00007
NM_133433.4(NIPBL):c.3575-19A>G rs369824627 0.00007
NM_133433.4(NIPBL):c.3768+15T>C rs367616618 0.00007
NM_133433.4(NIPBL):c.3861C>T (p.Asn1287=) rs531615496 0.00007
NM_133433.4(NIPBL):c.4449A>G (p.Glu1483=) rs759492239 0.00007
NM_133433.4(NIPBL):c.5574+5G>T rs745769829 0.00007
NM_133433.4(NIPBL):c.1254A>G (p.Gln418=) rs538985170 0.00006
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.6399T>C (p.Leu2133=) rs752327065 0.00006
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=) rs376448686 0.00006
NM_133433.4(NIPBL):c.6954+3A>G rs769439754 0.00006
NM_133433.4(NIPBL):c.7047T>C (p.Tyr2349=) rs398124470 0.00006
NM_133433.4(NIPBL):c.7590A>G (p.Ser2530=) rs1286310849 0.00006
NM_133433.4(NIPBL):c.1896G>C (p.Glu632Asp) rs751913459 0.00005
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) rs587783913 0.00005
NM_133433.4(NIPBL):c.5010+18T>C rs760245618 0.00005
NM_133433.4(NIPBL):c.5329-17del rs773593197 0.00005
NM_133433.4(NIPBL):c.5574+7T>G rs200982549 0.00005
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu) rs562557528 0.00005
NM_133433.4(NIPBL):c.7119A>G (p.Thr2373=) rs779759181 0.00005
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167 0.00004
NM_133433.4(NIPBL):c.2120G>T (p.Gly707Val) rs768620796 0.00004
NM_133433.4(NIPBL):c.2772C>T (p.Asn924=) rs188565385 0.00004
NM_133433.4(NIPBL):c.3664+19A>G rs371144121 0.00004
NM_133433.4(NIPBL):c.4650T>A (p.Gly1550=) rs760960982 0.00004
NM_133433.4(NIPBL):c.5472G>A (p.Ser1824=) rs369177620 0.00004
NM_133433.4(NIPBL):c.5802C>T (p.Thr1934=) rs761398208 0.00004
NM_133433.4(NIPBL):c.6250-11A>G rs545271521 0.00004
NM_133433.4(NIPBL):c.6343+10A>G rs767173489 0.00004
NM_133433.4(NIPBL):c.948A>G (p.Leu316=) rs201213428 0.00004
NM_133433.4(NIPBL):c.1629T>C (p.Ile543=) rs778086908 0.00003
NM_133433.4(NIPBL):c.2228G>A (p.Arg743His) rs755001260 0.00003
NM_133433.4(NIPBL):c.230+19A>G rs749141253 0.00003
NM_133433.4(NIPBL):c.2555A>G (p.Asn852Ser) rs776280237 0.00003
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784 0.00003
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=) rs371566938 0.00003
NM_133433.4(NIPBL):c.3018A>G (p.Gln1006=) rs776669672 0.00003
NM_133433.4(NIPBL):c.3537G>A (p.Lys1179=) rs544459951 0.00003
NM_133433.4(NIPBL):c.4203A>G (p.Leu1401=) rs1356246775 0.00003
NM_133433.4(NIPBL):c.458+18C>T rs759013143 0.00003
NM_133433.4(NIPBL):c.5226-4G>A rs370826969 0.00003
NM_133433.4(NIPBL):c.611-8A>G rs372555863 0.00003
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly) rs587784018 0.00003
NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=) rs772030142 0.00003
NM_133433.4(NIPBL):c.732T>C (p.Ser244=) rs1041133270 0.00003
NM_133433.4(NIPBL):c.772-12C>T rs756589091 0.00003
NM_133433.4(NIPBL):c.8133C>T (p.Ile2711=) rs780857060 0.00003
NM_133433.4(NIPBL):c.126T>C (p.Phe42=) rs727504046 0.00002
NM_133433.4(NIPBL):c.1383A>G (p.Gln461=) rs1488544687 0.00002
NM_133433.4(NIPBL):c.1920A>G (p.Leu640=) rs530214717 0.00002
NM_133433.4(NIPBL):c.2472A>C (p.Ser824=) rs1342549115 0.00002
NM_133433.4(NIPBL):c.2616T>C (p.His872=) rs750703789 0.00002
NM_133433.4(NIPBL):c.2682T>C (p.Arg894=) rs762876279 0.00002
NM_133433.4(NIPBL):c.2877G>A (p.Pro959=) rs1038314771 0.00002
NM_133433.4(NIPBL):c.2901C>A (p.Gly967=) rs765533064 0.00002
NM_133433.4(NIPBL):c.300G>A (p.Leu100=) rs768550843 0.00002
NM_133433.4(NIPBL):c.3204T>C (p.Arg1068=) rs768002739 0.00002
NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=) rs373206831 0.00002
NM_133433.4(NIPBL):c.4421+20G>T rs757831744 0.00002
NM_133433.4(NIPBL):c.458+19G>A rs374889149 0.00002
NM_133433.4(NIPBL):c.4683G>C (p.Leu1561=) rs756897581 0.00002
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys) rs780708835 0.00002
NM_133433.4(NIPBL):c.4830T>G (p.Leu1610=) rs986105665 0.00002
NM_133433.4(NIPBL):c.5428-20T>G rs774709184 0.00002
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser) rs587783983 0.00002
NM_133433.4(NIPBL):c.6528A>G (p.Leu2176=) rs1193127395 0.00002
NM_133433.4(NIPBL):c.6792A>G (p.Leu2264=) rs1297675054 0.00002
NM_133433.4(NIPBL):c.7914G>A (p.Glu2638=) rs992031835 0.00002
NM_133433.4(NIPBL):c.8049+7C>T rs750822770 0.00002
NM_133433.4(NIPBL):c.8316T>A (p.Ile2772=) rs1446565425 0.00002
NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser) rs200872976 0.00002
NM_133433.4(NIPBL):c.8414A>G (p.Ter2805=) rs778876578 0.00002
NM_133433.4(NIPBL):c.869-15G>A rs754264503 0.00002
NM_133433.4(NIPBL):c.1077A>G (p.Thr359=) rs767162047 0.00001
NM_133433.4(NIPBL):c.1164T>C (p.Asn388=) rs768113851 0.00001
NM_133433.4(NIPBL):c.1178A>G (p.Asn393Ser) rs777670369 0.00001
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321 0.00001
NM_133433.4(NIPBL):c.1224A>G (p.Gln408=) rs764746811 0.00001
NM_133433.4(NIPBL):c.123C>T (p.Leu41=) rs774269226 0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 0.00001
NM_133433.4(NIPBL):c.1434G>A (p.Glu478=) rs750562280 0.00001
NM_133433.4(NIPBL):c.1496-9A>G rs754119799 0.00001
NM_133433.4(NIPBL):c.1893G>A (p.Val631=) rs764259165 0.00001
NM_133433.4(NIPBL):c.2092T>C (p.Ser698Pro) rs550141620 0.00001
NM_133433.4(NIPBL):c.2205T>C (p.Thr735=) rs750217822 0.00001
NM_133433.4(NIPBL):c.230+10A>T rs1342924796 0.00001
NM_133433.4(NIPBL):c.2310G>A (p.Lys770=) rs1294397303 0.00001
NM_133433.4(NIPBL):c.2331T>C (p.Pro777=) rs1242189905 0.00001
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=) rs587783903 0.00001
NM_133433.4(NIPBL):c.2643A>G (p.Pro881=) rs200496609 0.00001
NM_133433.4(NIPBL):c.2703T>C (p.Asn901=) rs774346043 0.00001
NM_133433.4(NIPBL):c.2754C>T (p.Asp918=) rs780317958 0.00001
NM_133433.4(NIPBL):c.3102A>G (p.Lys1034=) rs765887558 0.00001
NM_133433.4(NIPBL):c.3429T>C (p.Gly1143=) rs777976223 0.00001
NM_133433.4(NIPBL):c.348T>C (p.Tyr116=) rs1419197381 0.00001
NM_133433.4(NIPBL):c.3574+7C>T rs1382498807 0.00001
NM_133433.4(NIPBL):c.3630G>A (p.Leu1210=) rs372752190 0.00001
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=) rs143252734 0.00001
NM_133433.4(NIPBL):c.3664+11C>T rs954328973 0.00001
NM_133433.4(NIPBL):c.3664+8C>T rs377059468 0.00001
NM_133433.4(NIPBL):c.4087+9G>A rs757255852 0.00001
NM_133433.4(NIPBL):c.4087+9del rs764679386 0.00001
NM_133433.4(NIPBL):c.4088-8del rs762012135 0.00001
NM_133433.4(NIPBL):c.4088-9T>C rs762204285 0.00001
NM_133433.4(NIPBL):c.4161T>C (p.Tyr1387=) rs752419634 0.00001
NM_133433.4(NIPBL):c.42G>A (p.Ala14=) rs727504045 0.00001
NM_133433.4(NIPBL):c.4335T>C (p.Tyr1445=) rs767317539 0.00001
NM_133433.4(NIPBL):c.453C>T (p.Pro151=) rs769152836 0.00001
NM_133433.4(NIPBL):c.45G>C (p.Gly15=) rs757439561 0.00001
NM_133433.4(NIPBL):c.4617A>G (p.Gln1539=) rs1472682348 0.00001
NM_133433.4(NIPBL):c.4921-4A>G rs368263380 0.00001
NM_133433.4(NIPBL):c.5011-16T>G rs1749493331 0.00001
NM_133433.4(NIPBL):c.5011-8C>T rs572178354 0.00001
NM_133433.4(NIPBL):c.5052A>G (p.Thr1684=) rs765047071 0.00001
NM_133433.4(NIPBL):c.5118T>C (p.His1706=) rs780337526 0.00001
NM_133433.4(NIPBL):c.5195A>G (p.Lys1732Arg) rs775226349 0.00001
NM_133433.4(NIPBL):c.5225+7T>A rs767449402 0.00001
NM_133433.4(NIPBL):c.5226-9T>G rs774131588 0.00001
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=) rs758853244 0.00001
NM_133433.4(NIPBL):c.5307C>T (p.Ser1769=) rs1486487706 0.00001
NM_133433.4(NIPBL):c.5328+20C>T rs757752804 0.00001
NM_133433.4(NIPBL):c.5403T>C (p.Ala1801=) rs1394378576 0.00001
NM_133433.4(NIPBL):c.5458T>C (p.Leu1820=) rs1327045367 0.00001
NM_133433.4(NIPBL):c.5575-5T>C rs780152442 0.00001
NM_133433.4(NIPBL):c.5814A>G (p.Ala1938=) rs375622324 0.00001
NM_133433.4(NIPBL):c.585C>T (p.Tyr195=) rs80358360 0.00001
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=) rs761030463 0.00001
NM_133433.4(NIPBL):c.6024T>G (p.Thr2008=) rs953071807 0.00001
NM_133433.4(NIPBL):c.6051C>G (p.Pro2017=) rs1031417413 0.00001
NM_133433.4(NIPBL):c.606A>G (p.Gln202=) rs1233849776 0.00001
NM_133433.4(NIPBL):c.6111G>A (p.Thr2037=) rs755732764 0.00001
NM_133433.4(NIPBL):c.6249+17C>T rs1004419718 0.00001
NM_133433.4(NIPBL):c.6250-13C>T rs770140635 0.00001
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=) rs372730081 0.00001
NM_133433.4(NIPBL):c.6450A>G (p.Leu2150=) rs1378050646 0.00001
NM_133433.4(NIPBL):c.6516A>G (p.Lys2172=) rs1752958310 0.00001
NM_133433.4(NIPBL):c.6763+13A>G rs747383102 0.00001
NM_133433.4(NIPBL):c.6763+18T>C rs781736801 0.00001
NM_133433.4(NIPBL):c.6764-6T>C rs1260323204 0.00001
NM_133433.4(NIPBL):c.6888T>C (p.Ser2296=) rs201968259 0.00001
NM_133433.4(NIPBL):c.6954+7A>G rs765095458 0.00001
NM_133433.4(NIPBL):c.6955-20A>T rs1489274110 0.00001
NM_133433.4(NIPBL):c.7068A>G (p.Lys2356=) rs1424732133 0.00001
NM_133433.4(NIPBL):c.708T>G (p.Ala236=) rs139894113 0.00001
NM_133433.4(NIPBL):c.7411-15G>A rs374348403 0.00001
NM_133433.4(NIPBL):c.7602C>T (p.Ile2534=) rs398124472 0.00001
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=) rs587784046 0.00001
NM_133433.4(NIPBL):c.771+20T>G rs373739863 0.00001
NM_133433.4(NIPBL):c.772-8A>G rs398124473 0.00001
NM_133433.4(NIPBL):c.7737G>A (p.Ala2579=) rs760603031 0.00001
NM_133433.4(NIPBL):c.7758T>G (p.Val2586=) rs758683339 0.00001
NM_133433.4(NIPBL):c.8007T>C (p.Asp2669=) rs774414570 0.00001
NM_133433.4(NIPBL):c.8118C>T (p.Asp2706=) rs763443745 0.00001
NM_133433.4(NIPBL):c.8391C>T (p.Ala2797=) rs997526101 0.00001
NM_133433.4(NIPBL):c.117C>T (p.Ser39=)
NM_133433.4(NIPBL):c.1278A>G (p.Thr426=) rs781405794
NM_133433.4(NIPBL):c.1278A>T (p.Thr426=) rs781405794
NM_133433.4(NIPBL):c.1302G>C (p.Val434=) rs769279620
NM_133433.4(NIPBL):c.1302G>T (p.Val434=) rs769279620
NM_133433.4(NIPBL):c.132A>G (p.Ala44=) rs2478986791
NM_133433.4(NIPBL):c.1425T>C (p.Ala475=) rs2479130247
NM_133433.4(NIPBL):c.1495+11C>G rs749655381
NM_133433.4(NIPBL):c.1495+18_1495+20del
NM_133433.4(NIPBL):c.1560T>G (p.Gly520=) rs2477917598
NM_133433.4(NIPBL):c.1584G>A (p.Thr528=) rs2149643066
NM_133433.4(NIPBL):c.1590T>C (p.Ser530=)
NM_133433.4(NIPBL):c.1686C>T (p.Asp562=) rs1182594394
NM_133433.4(NIPBL):c.1806A>G (p.Lys602=)
NM_133433.4(NIPBL):c.1827A>C (p.Ser609=)
NM_133433.4(NIPBL):c.2004A>C (p.Ile668=)
NM_133433.4(NIPBL):c.2013T>G (p.Pro671=)
NM_133433.4(NIPBL):c.201T>C (p.His67=)
NM_133433.4(NIPBL):c.2025A>G (p.Glu675=) rs1341978285
NM_133433.4(NIPBL):c.2058C>T (p.Asn686=) rs1744622283
NM_133433.4(NIPBL):c.2148A>G (p.Gln716=)
NM_133433.4(NIPBL):c.2160G>A (p.Gly720=)
NM_133433.4(NIPBL):c.230+18T>C rs775446742
NM_133433.4(NIPBL):c.231-20A>G
NM_133433.4(NIPBL):c.2514T>G (p.Ser838=) rs746173840
NM_133433.4(NIPBL):c.2655A>G (p.Glu885=)
NM_133433.4(NIPBL):c.2709A>T (p.Ser903=) rs1256938703
NM_133433.4(NIPBL):c.2739A>G (p.Pro913=)
NM_133433.4(NIPBL):c.2751T>C (p.Asp917=) rs2477937607
NM_133433.4(NIPBL):c.2871C>T (p.Val957=) rs2477939747
NM_133433.4(NIPBL):c.2946G>A (p.Pro982=)
NM_133433.4(NIPBL):c.297C>T (p.Val99=) rs749086242
NM_133433.4(NIPBL):c.3021A>G (p.Lys1007=)
NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met) rs1561119475
NM_133433.4(NIPBL):c.3108A>G (p.Ser1036=)
NM_133433.4(NIPBL):c.3121+19A>C rs770046926
NM_133433.4(NIPBL):c.3121+7A>C rs2477943518
NM_133433.4(NIPBL):c.3122-17T>G rs752419504
NM_133433.4(NIPBL):c.3165C>T (p.Leu1055=)
NM_133433.4(NIPBL):c.3255T>C (p.Tyr1085=) rs2478032477
NM_133433.4(NIPBL):c.3304+14A>C
NM_133433.4(NIPBL):c.3305-13G>A
NM_133433.4(NIPBL):c.3305-17T>C rs2478076632
NM_133433.4(NIPBL):c.3306C>T (p.Ser1102=)
NM_133433.4(NIPBL):c.3318A>G (p.Arg1106=) rs1240297882
NM_133433.4(NIPBL):c.3405T>C (p.His1135=) rs2478078415
NM_133433.4(NIPBL):c.3452C>T (p.Pro1151Leu) rs1746665222
NM_133433.4(NIPBL):c.3502+10del
NM_133433.4(NIPBL):c.3502+20G>A rs765270376
NM_133433.4(NIPBL):c.3503-12T>C rs2478084962
NM_133433.4(NIPBL):c.3575-9C>T rs762888772
NM_133433.4(NIPBL):c.358+19G>C
NM_133433.4(NIPBL):c.3769-8T>A rs759822571
NM_133433.4(NIPBL):c.3786T>C (p.Thr1262=) rs2478114988
NM_133433.4(NIPBL):c.3796T>C (p.Leu1266=)
NM_133433.4(NIPBL):c.3834G>A (p.Lys1278=) rs1160043014
NM_133433.4(NIPBL):c.3856-10T>G rs2149676690
NM_133433.4(NIPBL):c.3856-15A>C
NM_133433.4(NIPBL):c.3856-23_3856-13del rs748846456
NM_133433.4(NIPBL):c.3873A>G (p.Glu1291=) rs777857860
NM_133433.4(NIPBL):c.3947A>G (p.Asn1316Ser) rs1580451626
NM_133433.4(NIPBL):c.3957A>G (p.Thr1319=) rs2478147185
NM_133433.4(NIPBL):c.4087+15_4087+20del rs890998022
NM_133433.4(NIPBL):c.4087+18C>G rs2478149007
NM_133433.4(NIPBL):c.4088-6T>C rs2478156720
NM_133433.4(NIPBL):c.4146A>G (p.Val1382=) rs2478157588
NM_133433.4(NIPBL):c.4212A>G (p.Gln1404=)
NM_133433.4(NIPBL):c.4239+7T>C rs2478158871
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.4321-6A>G rs1747724343
NM_133433.4(NIPBL):c.4421+15_4421+16del rs758641197
NM_133433.4(NIPBL):c.4421+18_4421+19del rs1441796137
NM_133433.4(NIPBL):c.4422-8_4422-5del
NM_133433.4(NIPBL):c.444A>G (p.Ser148=) rs2479027605
NM_133433.4(NIPBL):c.4524G>A (p.Glu1508=) rs1426453183
NM_133433.4(NIPBL):c.4560+19G>T rs201403933
NM_133433.4(NIPBL):c.4561-4C>A
NM_133433.4(NIPBL):c.458+9T>C rs1246476225
NM_133433.4(NIPBL):c.4587C>T (p.Asn1529=) rs1748727860
NM_133433.4(NIPBL):c.4602T>C (p.Ala1534=) rs968768950
NM_133433.4(NIPBL):c.462G>A (p.Arg154=) rs769203117
NM_133433.4(NIPBL):c.4643+10A>G rs2149688689
NM_133433.4(NIPBL):c.4644-16A>G rs1156302790
NM_133433.4(NIPBL):c.4776+11_4776+12insTTAT rs748963945
NM_133433.4(NIPBL):c.4777-14_4777-13del
NM_133433.4(NIPBL):c.4777-16C>A rs2478278768
NM_133433.4(NIPBL):c.4777-6A>G rs1580483669
NM_133433.4(NIPBL):c.4815A>G (p.Leu1605=)
NM_133433.4(NIPBL):c.4857G>A (p.Arg1619=)
NM_133433.4(NIPBL):c.4920+13_4920+14del
NM_133433.4(NIPBL):c.4921-5T>A
NM_133433.4(NIPBL):c.4940A>G (p.Glu1647Gly) rs2478303864
NM_133433.4(NIPBL):c.4962A>G (p.Ala1654=) rs991961265
NM_133433.4(NIPBL):c.5010+20T>C
NM_133433.4(NIPBL):c.5011-19C>G rs572959962
NM_133433.4(NIPBL):c.5037G>A (p.Gln1679=) rs2478315530
NM_133433.4(NIPBL):c.513T>C (p.Asn171=)
NM_133433.4(NIPBL):c.5225+8C>A
NM_133433.4(NIPBL):c.5226-18A>G
NM_133433.4(NIPBL):c.5295G>C (p.Pro1765=) rs758853244
NM_133433.4(NIPBL):c.5421A>G (p.Leu1807=) rs1749720729
NM_133433.4(NIPBL):c.5427+16G>A rs753342252
NM_133433.4(NIPBL):c.5427+20C>T rs148675296
NM_133433.4(NIPBL):c.5427+24_5427+27del rs766538036
NM_133433.4(NIPBL):c.5428-7T>C
NM_133433.4(NIPBL):c.546C>T (p.Ser182=) rs2479033622
NM_133433.4(NIPBL):c.5553T>C (p.Asp1851=)
NM_133433.4(NIPBL):c.5571A>T (p.Ile1857=)
NM_133433.4(NIPBL):c.5574+11C>A rs2478341925
NM_133433.4(NIPBL):c.5575-13T>C
NM_133433.4(NIPBL):c.5575-16del
NM_133433.4(NIPBL):c.5575-8G>C
NM_133433.4(NIPBL):c.5710-13C>G rs562131143
NM_133433.4(NIPBL):c.5809-18T>A rs2478395809
NM_133433.4(NIPBL):c.5811T>G (p.Val1937=) rs2478395979
NM_133433.4(NIPBL):c.5862+10C>G
NM_133433.4(NIPBL):c.5863-19_5863-2del rs753611931
NM_133433.4(NIPBL):c.5972-14G>C rs374831448
NM_133433.4(NIPBL):c.5972-16_5972-15del rs1327351282
NM_133433.4(NIPBL):c.5997T>C (p.Ser1999=) rs2149721385
NM_133433.4(NIPBL):c.6072A>G (p.Ala2024=) rs745516748
NM_133433.4(NIPBL):c.6108+13C>T rs925045027
NM_133433.4(NIPBL):c.6108+7A>G rs587783995
NM_133433.4(NIPBL):c.611-14_611-12del rs2479088521
NM_133433.4(NIPBL):c.6171G>A (p.Leu2057=) rs1579556694
NM_133433.4(NIPBL):c.6177G>A (p.Glu2059=) rs748074172
NM_133433.4(NIPBL):c.6219A>G (p.Leu2073=) rs149769284
NM_133433.4(NIPBL):c.6249+14T>G rs2149730972
NM_133433.4(NIPBL):c.6249+18C>G rs1454110019
NM_133433.4(NIPBL):c.6250-13C>G
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_133433.4(NIPBL):c.6343+15A>C
NM_133433.4(NIPBL):c.6343+17G>C
NM_133433.4(NIPBL):c.636A>T (p.Ala212=)
NM_133433.4(NIPBL):c.6375A>G (p.Gln2125=)
NM_133433.4(NIPBL):c.6384A>C (p.Pro2128=) rs1045339322
NM_133433.4(NIPBL):c.6384A>G (p.Pro2128=) rs1045339322
NM_133433.4(NIPBL):c.64+13A>G
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133433.4(NIPBL):c.6589+13T>C rs1250325513
NM_133433.4(NIPBL):c.6589+18T>C
NM_133433.4(NIPBL):c.6597C>G (p.Ala2199=) rs773628266
NM_133433.4(NIPBL):c.6717C>G (p.Thr2239=) rs2478617995
NM_133433.4(NIPBL):c.6764-10G>A rs2478623429
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.6819G>A (p.Gly2273=) rs778420641
NM_133433.4(NIPBL):c.6825T>C (p.Ser2275=) rs1235145321
NM_133433.4(NIPBL):c.6918A>G (p.Ala2306=) rs1321886642
NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=) rs2478625186
NM_133433.4(NIPBL):c.6954+13T>G rs2478625670
NM_133433.4(NIPBL):c.6954+18C>T rs1753280855
NM_133433.4(NIPBL):c.6963A>G (p.Pro2321=) rs762930515
NM_133433.4(NIPBL):c.6975T>C (p.Ala2325=) rs1400161680
NM_133433.4(NIPBL):c.7023A>G (p.Gln2341=)
NM_133433.4(NIPBL):c.7062+7_7062+8del rs746185595
NM_133433.4(NIPBL):c.7063-11A>C rs144718523
NM_133433.4(NIPBL):c.7077T>C (p.Ala2359=)
NM_133433.4(NIPBL):c.7149A>G (p.Arg2383=) rs148375273
NM_133433.4(NIPBL):c.7164T>A (p.Ser2388=)
NM_133433.4(NIPBL):c.7164T>C (p.Ser2388=) rs773405443
NM_133433.4(NIPBL):c.7218A>G (p.Arg2406=) rs1579583689
NM_133433.4(NIPBL):c.7264-19T>C rs1236742558
NM_133433.4(NIPBL):c.7264-7T>C rs775991611
NM_133433.4(NIPBL):c.7323G>A (p.Gln2441=)
NM_133433.4(NIPBL):c.741C>T (p.Tyr247=)
NM_133433.4(NIPBL):c.7446A>G (p.Ser2482=) rs1426672358
NM_133433.4(NIPBL):c.7473C>T (p.Ser2491=) rs780356036
NM_133433.4(NIPBL):c.7524TTCAGA[5] (p.Ser2515_Glu2516insAspSer)
NM_133433.4(NIPBL):c.7551C>T (p.Asp2517=)
NM_133433.4(NIPBL):c.771+13T>C
NM_133433.4(NIPBL):c.771+20T>A
NM_133433.4(NIPBL):c.7716T>C (p.Ser2572=)
NM_133433.4(NIPBL):c.7788C>T (p.Phe2596=) rs1258848996
NM_133433.4(NIPBL):c.7812C>G (p.Ser2604=)
NM_133433.4(NIPBL):c.7861-19T>C
NM_133433.4(NIPBL):c.7861-9T>G rs777258869
NM_133433.4(NIPBL):c.7872C>G (p.Leu2624=)
NM_133433.4(NIPBL):c.7956A>C (p.Ser2652=) rs1755081524
NM_133433.4(NIPBL):c.7956A>G (p.Ser2652=)
NM_133433.4(NIPBL):c.8050-8T>C rs2478768382
NM_133433.4(NIPBL):c.807T>G (p.Ser269=) rs2479097805
NM_133433.4(NIPBL):c.8247T>C (p.Thr2749=) rs1366850491
NM_133433.4(NIPBL):c.8283T>C (p.Pro2761=) rs2478771025
NM_133433.4(NIPBL):c.834A>G (p.Val278=) rs377714862
NM_133433.4(NIPBL):c.834A>T (p.Val278=) rs377714862
NM_133433.4(NIPBL):c.8409C>A (p.Ser2803=)
NM_133433.4(NIPBL):c.843T>C (p.Pro281=) rs1742903458
NM_133433.4(NIPBL):c.868+16A>G rs2479098567
NM_133433.4(NIPBL):c.868+17A>G rs2479098583
NM_133433.4(NIPBL):c.868+4C>T rs751127087
NM_133433.4(NIPBL):c.868+8T>A rs2479098504
NM_133433.4(NIPBL):c.879A>C (p.Pro293=)
NM_133433.4(NIPBL):c.879A>G (p.Pro293=) rs760114555
NM_133433.4(NIPBL):c.894A>G (p.Gln298=) rs587784064
NM_133433.4(NIPBL):c.904C>T (p.Leu302=) rs755928572
NM_133433.4(NIPBL):c.99T>C (p.Pro33=) rs1232312013
NM_133433.4(NIPBL):c.9G>T (p.Gly3=)

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