ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 438
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057 0.00101
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) rs80358349 0.00048
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.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.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=) rs139177541 0.00014
NM_133433.4(NIPBL):c.-265A>G rs879291582 0.00011
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_006306.4(SMC1A):c.*348C>T rs782700234 0.00010
NM_133433.4(NIPBL):c.3369A>C (p.Arg1123Ser) rs140344071 0.00010
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) rs749296628 0.00009
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=) rs147865925 0.00008
NM_133433.4(NIPBL):c.1981T>C (p.Cys661Arg) rs746789978 0.00007
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser) rs190086412 0.00007
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu) rs370593530 0.00007
NM_133433.4(NIPBL):c.6954+3A>G rs769439754 0.00007
NM_005445.4(SMC3):c.1670+6_1670+7insAAC rs766155607 0.00006
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324 0.00006
NM_133433.4(NIPBL):c.6589+9A>T rs370709104 0.00006
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala) rs185745349 0.00006
NM_133433.4(NIPBL):c.*551G>C rs760747084 0.00005
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890 0.00005
NM_133433.4(NIPBL):c.2137A>G (p.Thr713Ala) rs773534683 0.00005
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser) rs143152112 0.00005
NM_133433.4(NIPBL):c.-410C>T rs886060554 0.00004
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg) rs150837768 0.00004
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn) rs371073215 0.00004
NM_133433.4(NIPBL):c.2774A>G (p.Lys925Arg) rs1198125549 0.00004
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val) rs749926228 0.00004
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) rs587783913 0.00004
NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala) rs772009624 0.00004
NM_133433.4(NIPBL):c.5051C>A (p.Thr1684Lys) rs774109272 0.00004
NM_133433.4(NIPBL):c.689A>G (p.Asn230Ser) rs369282785 0.00004
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys) rs587784058 0.00004
NM_133433.4(NIPBL):c.*32A>T rs758539444 0.00003
NM_133433.4(NIPBL):c.*545A>G rs886060566 0.00003
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152 0.00003
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe) rs540365485 0.00003
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln) rs61755039 0.00003
NM_133433.4(NIPBL):c.5018G>A (p.Arg1673His) rs770286768 0.00003
NM_133433.4(NIPBL):c.8139T>C (p.Ile2713=) rs1187325987 0.00003
NM_133433.4(NIPBL):c.1228A>G (p.Ile410Val) rs141010980 0.00002
NM_133433.4(NIPBL):c.1234C>T (p.Arg412Cys) rs571300383 0.00002
NM_133433.4(NIPBL):c.2515A>G (p.Arg839Gly) rs780665254 0.00002
NM_133433.4(NIPBL):c.3112T>A (p.Ser1038Thr) rs747918239 0.00002
NM_133433.4(NIPBL):c.3362A>T (p.Asp1121Val) rs1223302517 0.00002
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser) rs587783983 0.00002
NM_133433.4(NIPBL):c.611-10T>C rs368836554 0.00002
NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala) rs764147606 0.00002
NM_001379291.1(BRD4):c.1507T>A (p.Ser503Thr) rs1279388211 0.00001
NM_133433.4(NIPBL):c.*351G>A rs185780527 0.00001
NM_133433.4(NIPBL):c.-379G>A rs886060555 0.00001
NM_133433.4(NIPBL):c.-79-11559C>T rs1436464402 0.00001
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp) rs587783881 0.00001
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met) rs574981584 0.00001
NM_133433.4(NIPBL):c.1593G>A (p.Thr531=) rs760769176 0.00001
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser) rs144289137 0.00001
NM_133433.4(NIPBL):c.2081A>G (p.Glu694Gly) rs144812404 0.00001
NM_133433.4(NIPBL):c.2128C>T (p.Arg710Trp) rs774516564 0.00001
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln) rs757394370 0.00001
NM_133433.4(NIPBL):c.2505G>T (p.Gly835=) rs587783908 0.00001
NM_133433.4(NIPBL):c.2511G>C (p.Gln837His) rs201163469 0.00001
NM_133433.4(NIPBL):c.2701A>C (p.Asn901His) rs918012033 0.00001
NM_133433.4(NIPBL):c.3102A>G (p.Lys1034=) rs765887558 0.00001
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916 0.00001
NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp) rs376768802 0.00001
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn) rs587783920 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_133433.4(NIPBL):c.3487C>T (p.Pro1163Ser) rs761353689 0.00001
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=) rs143252734 0.00001
NM_133433.4(NIPBL):c.3668A>G (p.Asp1223Gly) rs775247210 0.00001
NM_133433.4(NIPBL):c.3868G>A (p.Glu1290Lys) rs587783935 0.00001
NM_133433.4(NIPBL):c.3894C>G (p.Asp1298Glu) rs770936588 0.00001
NM_133433.4(NIPBL):c.42G>A (p.Ala14=) rs727504045 0.00001
NM_133433.4(NIPBL):c.4378C>T (p.Leu1460Phe) rs1580456602 0.00001
NM_133433.4(NIPBL):c.4516T>C (p.Ser1506Pro) rs1056274601 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.4907G>T (p.Arg1636Leu) rs886042731 0.00001
NM_133433.4(NIPBL):c.494G>A (p.Arg165Lys) rs1355970346 0.00001
NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile) rs775077572 0.00001
NM_133433.4(NIPBL):c.5641A>G (p.Thr1881Ala) rs376084993 0.00001
NM_133433.4(NIPBL):c.617T>A (p.Val206Glu) rs1742780375 0.00001
NM_133433.4(NIPBL):c.6189A>T (p.Glu2063Asp) rs773286952 0.00001
NM_133433.4(NIPBL):c.6993A>G (p.Glu2331=) rs587784028 0.00001
NM_133433.4(NIPBL):c.7362C>T (p.Asp2454=) rs886060559 0.00001
NM_133433.4(NIPBL):c.7411-15G>A rs374348403 0.00001
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser) rs794727675 0.00001
NM_133433.4(NIPBL):c.7552G>A (p.Asp2518Asn) rs961989627 0.00001
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=) rs587784046 0.00001
NC_000005.9:g.(?_37002744)_(37046321_?)dup
NM_001379291.1(BRD4):c.1164C>A (p.His388Gln) rs200443528
NM_001379291.1(BRD4):c.1292A>C (p.Lys431Thr)
NM_001379291.1(BRD4):c.1946C>G (p.Pro649Arg)
NM_001379291.1(BRD4):c.2135C>T (p.Ser712Phe) rs768842514
NM_001379291.1(BRD4):c.2800_2808del (p.Gln934_Gln936del)
NM_001379291.1(BRD4):c.2825C>T (p.Thr942Met)
NM_005445.4(SMC3):c.*298del rs886046697
NM_005445.4(SMC3):c.2535+28dup rs397847637
NM_006306.4(SMC1A):c.*817ACAG[1] rs1057515968
NM_133433.3(NIPBL):c.3856-?_4239+?del
NM_133433.4(NIPBL):c.*142G>C rs886060562
NM_133433.4(NIPBL):c.*265_*266del rs886060563
NM_133433.4(NIPBL):c.*354T>C rs1755262500
NM_133433.4(NIPBL):c.*460del rs768908921
NM_133433.4(NIPBL):c.*742_*743del rs886060567
NM_133433.4(NIPBL):c.-153dup rs567891305
NM_133433.4(NIPBL):c.-315del
NM_133433.4(NIPBL):c.-338C>T rs886060556
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.-80+11G>C rs1257470313
NM_133433.4(NIPBL):c.1001A>C (p.Asp334Ala)
NM_133433.4(NIPBL):c.1004A>G (p.Glu335Gly)
NM_133433.4(NIPBL):c.1032G>A (p.Met344Ile)
NM_133433.4(NIPBL):c.103A>G (p.Thr35Ala)
NM_133433.4(NIPBL):c.1058A>G (p.Lys353Arg) rs1743395526
NM_133433.4(NIPBL):c.1136G>T (p.Gly379Val)
NM_133433.4(NIPBL):c.1152T>A (p.Asn384Lys) rs1743404672
NM_133433.4(NIPBL):c.1169T>C (p.Ile390Thr)
NM_133433.4(NIPBL):c.1190C>T (p.Pro397Leu)
NM_133433.4(NIPBL):c.1202C>T (p.Ser401Leu)
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321
NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr) rs546539357
NM_133433.4(NIPBL):c.1235G>A (p.Arg412His)
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly) rs894352601
NM_133433.4(NIPBL):c.1268A>G (p.Gln423Arg)
NM_133433.4(NIPBL):c.1273C>G (p.Gln425Glu) rs1554015229
NM_133433.4(NIPBL):c.1285C>G (p.Leu429Val) rs1743429461
NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile)
NM_133433.4(NIPBL):c.134G>A (p.Arg45Gln)
NM_133433.4(NIPBL):c.1411T>G (p.Leu471Val)
NM_133433.4(NIPBL):c.1434G>A (p.Glu478=)
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln) rs1017711925
NM_133433.4(NIPBL):c.1469G>A (p.Arg490His)
NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn)
NM_133433.4(NIPBL):c.1560T>G (p.Gly520=)
NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val)
NM_133433.4(NIPBL):c.1626C>T (p.Ser542=)
NM_133433.4(NIPBL):c.163G>A (p.Ala55Thr)
NM_133433.4(NIPBL):c.1643C>G (p.Ala548Gly) rs2149643225
NM_133433.4(NIPBL):c.1669A>G (p.Ile557Val)
NM_133433.4(NIPBL):c.1678G>C (p.Asp560His)
NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr)
NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly)
NM_133433.4(NIPBL):c.1708A>G (p.Ile570Val)
NM_133433.4(NIPBL):c.1709T>C (p.Ile570Thr)
NM_133433.4(NIPBL):c.1717T>C (p.Cys573Arg) rs1744567400
NM_133433.4(NIPBL):c.1745A>G (p.Gln582Arg)
NM_133433.4(NIPBL):c.1753_1755del (p.Ile585del)
NM_133433.4(NIPBL):c.1757T>A (p.Val586Asp)
NM_133433.4(NIPBL):c.1783A>T (p.Asn595Tyr)
NM_133433.4(NIPBL):c.1816C>T (p.Pro606Ser)
NM_133433.4(NIPBL):c.1832G>A (p.Ser611Asn)
NM_133433.4(NIPBL):c.1835A>G (p.Glu612Gly)
NM_133433.4(NIPBL):c.1849G>A (p.Glu617Lys) rs1744586399
NM_133433.4(NIPBL):c.1849G>C (p.Glu617Gln) rs1744586399
NM_133433.4(NIPBL):c.1889TGG[1] (p.Val631del)
NM_133433.4(NIPBL):c.1925C>T (p.Thr642Ile) rs1744597297
NM_133433.4(NIPBL):c.1927A>G (p.Lys643Glu)
NM_133433.4(NIPBL):c.193C>G (p.Leu65Val)
NM_133433.4(NIPBL):c.1949A>C (p.Glu650Ala) rs2149644038
NM_133433.4(NIPBL):c.194T>C (p.Leu65Pro)
NM_133433.4(NIPBL):c.194T>G (p.Leu65Arg)
NM_133433.4(NIPBL):c.2035T>A (p.Ser679Thr) rs762097133
NM_133433.4(NIPBL):c.2075G>C (p.Arg692Thr)
NM_133433.4(NIPBL):c.2076A>T (p.Arg692Ser)
NM_133433.4(NIPBL):c.2087C>T (p.Thr696Ile)
NM_133433.4(NIPBL):c.209A>G (p.Asn70Ser) rs2149599601
NM_133433.4(NIPBL):c.210C>A (p.Asn70Lys)
NM_133433.4(NIPBL):c.2129G>A (p.Arg710Gln)
NM_133433.4(NIPBL):c.2224A>C (p.Ser742Arg)
NM_133433.4(NIPBL):c.2227C>T (p.Arg743Cys)
NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro) rs1178033980
NM_133433.4(NIPBL):c.2278C>T (p.His760Tyr)
NM_133433.4(NIPBL):c.2298G>T (p.Arg766Ser)
NM_133433.4(NIPBL):c.2317A>G (p.Thr773Ala)
NM_133433.4(NIPBL):c.2323A>G (p.Lys775Glu)
NM_133433.4(NIPBL):c.2332G>C (p.Glu778Gln) rs1744671339
NM_133433.4(NIPBL):c.2356A>G (p.Thr786Ala)
NM_133433.4(NIPBL):c.2374C>T (p.Arg792Trp)
NM_133433.4(NIPBL):c.2375G>T (p.Arg792Leu) rs376912534
NM_133433.4(NIPBL):c.2392G>C (p.Ala798Pro)
NM_133433.4(NIPBL):c.2404A>G (p.Lys802Glu)
NM_133433.4(NIPBL):c.2405A>G (p.Lys802Arg) rs1744681690
NM_133433.4(NIPBL):c.2426C>T (p.Ser809Phe)
NM_133433.4(NIPBL):c.2432C>A (p.Ser811Tyr)
NM_133433.4(NIPBL):c.2457TAA[1] (p.Asn820del)
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu) rs587783904
NM_133433.4(NIPBL):c.2480G>A (p.Arg827Lys)
NM_133433.4(NIPBL):c.2495G>A (p.Arg832Gln)
NM_133433.4(NIPBL):c.250G>A (p.Gly84Ser)
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) rs1554017428
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu) rs80358365
NM_133433.4(NIPBL):c.2597T>C (p.Leu866Pro)
NM_133433.4(NIPBL):c.2680C>T (p.Arg894Cys)
NM_133433.4(NIPBL):c.2681G>A (p.Arg894His) rs775238155
NM_133433.4(NIPBL):c.2698T>A (p.Ser900Thr)
NM_133433.4(NIPBL):c.2746A>G (p.Lys916Glu)
NM_133433.4(NIPBL):c.2775G>C (p.Lys925Asn)
NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr)
NM_133433.4(NIPBL):c.2864A>C (p.Asn955Thr) rs1744758389
NM_133433.4(NIPBL):c.295G>A (p.Val99Ile)
NM_133433.4(NIPBL):c.2975T>C (p.Val992Ala)
NM_133433.4(NIPBL):c.2980G>T (p.Asp994Tyr)
NM_133433.4(NIPBL):c.3049A>C (p.Ile1017Leu)
NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg) rs1580399961
NM_133433.4(NIPBL):c.306G>T (p.Arg102Ser)
NM_133433.4(NIPBL):c.3080C>T (p.Ser1027Phe)
NM_133433.4(NIPBL):c.3101A>G (p.Lys1034Arg)
NM_133433.4(NIPBL):c.3103C>G (p.Pro1035Ala) rs587783915
NM_133433.4(NIPBL):c.3124A>G (p.Ser1042Gly)
NM_133433.4(NIPBL):c.314A>G (p.Asn105Ser)
NM_133433.4(NIPBL):c.3213G>A (p.Met1071Ile) rs2149662601
NM_133433.4(NIPBL):c.3284A>C (p.Asp1095Ala)
NM_133433.4(NIPBL):c.3296C>T (p.Ala1099Val)
NM_133433.4(NIPBL):c.3310A>G (p.Arg1104Gly) rs2149668934
NM_133433.4(NIPBL):c.334A>C (p.Met112Leu) rs1242572717
NM_133433.4(NIPBL):c.3350A>G (p.Tyr1117Cys)
NM_133433.4(NIPBL):c.3380A>G (p.Asp1127Gly) rs2149669051
NM_133433.4(NIPBL):c.3392G>C (p.Ser1131Thr)
NM_133433.4(NIPBL):c.3401C>A (p.Ser1134Tyr)
NM_133433.4(NIPBL):c.3449G>A (p.Ser1150Asn)
NM_133433.4(NIPBL):c.3459T>G (p.Asp1153Glu)
NM_133433.4(NIPBL):c.3480TCC[2] (p.Pro1163del)
NM_133433.4(NIPBL):c.3503-9T>G rs587783924
NM_133433.4(NIPBL):c.3516G>T (p.Met1172Ile) rs1746709380
NM_133433.4(NIPBL):c.3527A>G (p.Glu1176Gly) rs1275880743
NM_133433.4(NIPBL):c.3533A>G (p.Gln1178Arg)
NM_133433.4(NIPBL):c.3548C>T (p.Ala1183Val) rs892589257
NM_133433.4(NIPBL):c.3574+12_3574+16del
NM_133433.4(NIPBL):c.3575-3_3575-2insG
NM_133433.4(NIPBL):c.358+3G>C rs1580330420
NM_133433.4(NIPBL):c.3649G>A (p.Asp1217Asn)
NM_133433.4(NIPBL):c.3656C>T (p.Thr1219Ile)
NM_133433.4(NIPBL):c.3672T>A (p.Asp1224Glu)
NM_133433.4(NIPBL):c.3769C>T (p.Leu1257Phe)
NM_133433.4(NIPBL):c.3775A>C (p.Thr1259Pro)
NM_133433.4(NIPBL):c.3778G>A (p.Asp1260Asn) rs2149673199
NM_133433.4(NIPBL):c.3855+5G>A rs80358378
NM_133433.4(NIPBL):c.3856-12A>C rs199847583
NM_133433.4(NIPBL):c.385T>C (p.Ser129Pro)
NM_133433.4(NIPBL):c.3868GAA[3] (p.Glu1293del) rs773996562
NM_133433.4(NIPBL):c.386C>G (p.Ser129Cys) rs1741620942
NM_133433.4(NIPBL):c.3923C>A (p.Ala1308Glu) rs1170839204
NM_133433.4(NIPBL):c.3928G>A (p.Ala1310Thr) rs2149676816
NM_133433.4(NIPBL):c.3937A>G (p.Thr1313Ala)
NM_133433.4(NIPBL):c.3938C>A (p.Thr1313Lys) rs886042218
NM_133433.4(NIPBL):c.3949A>G (p.Ile1317Val) rs1747443386
NM_133433.4(NIPBL):c.3968T>A (p.Met1323Lys) rs1747444771
NM_133433.4(NIPBL):c.403A>G (p.Ser135Gly)
NM_133433.4(NIPBL):c.407G>A (p.Ser136Asn) rs1741623090
NM_133433.4(NIPBL):c.4100G>C (p.Ser1367Thr)
NM_133433.4(NIPBL):c.4117G>A (p.Ala1373Thr) rs2149677952
NM_133433.4(NIPBL):c.4172G>C (p.Cys1391Ser)
NM_133433.4(NIPBL):c.4181T>C (p.Val1394Ala)
NM_133433.4(NIPBL):c.4183A>G (p.Ser1395Gly)
NM_133433.4(NIPBL):c.4225A>G (p.Thr1409Ala)
NM_133433.4(NIPBL):c.4255A>G (p.Ile1419Val)
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.432A>C (p.Gln144His)
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.4455G>A (p.Met1485Ile)
NM_133433.4(NIPBL):c.4508A>G (p.His1503Arg)
NM_133433.4(NIPBL):c.4513C>G (p.Pro1505Ala)
NM_133433.4(NIPBL):c.4529A>T (p.Asp1510Val)
NM_133433.4(NIPBL):c.4539AGA[2] (p.Glu1515del)
NM_133433.4(NIPBL):c.4560A>G (p.Lys1520=)
NM_133433.4(NIPBL):c.4573G>A (p.Val1525Ile) rs1351097452
NM_133433.4(NIPBL):c.4576G>C (p.Val1526Leu)
NM_133433.4(NIPBL):c.4603A>G (p.Met1535Val)
NM_133433.4(NIPBL):c.4607G>A (p.Arg1536Gln)
NM_133433.4(NIPBL):c.460C>A (p.Arg154=)
NM_133433.4(NIPBL):c.4673A>C (p.Tyr1558Ser) rs1447713911
NM_133433.4(NIPBL):c.4709T>G (p.Leu1570Arg)
NM_133433.4(NIPBL):c.4726C>A (p.Pro1576Thr)
NM_133433.4(NIPBL):c.4834T>G (p.Tyr1612Asp) rs1749083607
NM_133433.4(NIPBL):c.4847T>C (p.Val1616Ala)
NM_133433.4(NIPBL):c.4856G>T (p.Arg1619Leu) rs772077115
NM_133433.4(NIPBL):c.4920+5T>G
NM_133433.4(NIPBL):c.4996G>A (p.Asp1666Asn)
NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile)
NM_133433.4(NIPBL):c.5017C>T (p.Arg1673Cys)
NM_133433.4(NIPBL):c.5027A>G (p.Tyr1676Cys)
NM_133433.4(NIPBL):c.5044C>G (p.Arg1682Gly)
NM_133433.4(NIPBL):c.5045G>A (p.Arg1682Gln)
NM_133433.4(NIPBL):c.5113C>T (p.His1705Tyr)
NM_133433.4(NIPBL):c.5115T>C (p.His1705=) rs2149696602
NM_133433.4(NIPBL):c.5126A>C (p.Glu1709Ala)
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln) rs886060558
NM_133433.4(NIPBL):c.5182A>G (p.Arg1728Gly)
NM_133433.4(NIPBL):c.5226-3C>T
NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp)
NM_133433.4(NIPBL):c.524C>T (p.Pro175Leu)
NM_133433.4(NIPBL):c.5330T>G (p.Ile1777Ser) rs587783970
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg) rs483353060
NM_133433.4(NIPBL):c.5427G>A (p.Arg1809=)
NM_133433.4(NIPBL):c.5429T>C (p.Leu1810Pro)
NM_133433.4(NIPBL):c.5464G>T (p.Asp1822Tyr) rs587783976
NM_133433.4(NIPBL):c.5525G>A (p.Arg1842Gln)
NM_133433.4(NIPBL):c.5574+5G>T
NM_133433.4(NIPBL):c.5582G>T (p.Gly1861Val) rs1750049593
NM_133433.4(NIPBL):c.5709+4G>C
NM_133433.4(NIPBL):c.571C>T (p.His191Tyr)
NM_133433.4(NIPBL):c.5752A>G (p.Thr1918Ala)
NM_133433.4(NIPBL):c.5767_5769del (p.Lys1923del) rs1750256312
NM_133433.4(NIPBL):c.5773G>A (p.Ala1925Thr)
NM_133433.4(NIPBL):c.5803G>A (p.Asp1935Asn)
NM_133433.4(NIPBL):c.5808+6_5808+8del
NM_133433.4(NIPBL):c.586A>T (p.Thr196Ser)
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=) rs761030463
NM_133433.4(NIPBL):c.5A>G (p.Asn2Ser)
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.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.6098C>G (p.Thr2033Ser)
NM_133433.4(NIPBL):c.6108+7A>G rs587783995
NM_133433.4(NIPBL):c.610G>A (p.Ala204Thr) rs2149607994
NM_133433.4(NIPBL):c.611-3C>T
NM_133433.4(NIPBL):c.614C>T (p.Ser205Leu)
NM_133433.4(NIPBL):c.616G>A (p.Val206Ile)
NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln) rs587783999
NM_133433.4(NIPBL):c.6182C>T (p.Pro2061Leu) rs587783999
NM_133433.4(NIPBL):c.6222G>A (p.Met2074Ile)
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.6302A>G (p.Gln2101Arg)
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu)
NM_133433.4(NIPBL):c.6332A>G (p.Asn2111Ser)
NM_133433.4(NIPBL):c.6343+4A>T rs1344872907
NM_133433.4(NIPBL):c.6343+5G>A rs80358383
NM_133433.4(NIPBL):c.6369A>T (p.Gln2123His) rs369295272
NM_133433.4(NIPBL):c.64+4del rs1740653321
NM_133433.4(NIPBL):c.64+5G>A rs587784011
NM_133433.4(NIPBL):c.64+6T>A rs1554010766
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133433.4(NIPBL):c.6430C>T (p.Leu2144Phe)
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp) rs1579561078
NM_133433.4(NIPBL):c.6568A>G (p.Thr2190Ala) rs587784014
NM_133433.4(NIPBL):c.6574G>T (p.Ala2192Ser)
NM_133433.4(NIPBL):c.6577A>G (p.Ile2193Val) rs1368217611
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.667G>C (p.Val223Leu)
NM_133433.4(NIPBL):c.6703A>G (p.Lys2235Glu)
NM_133433.4(NIPBL):c.6705_6707del (p.Lys2235del) rs797045778
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.678G>A (p.Pro226=) rs192822119
NM_133433.4(NIPBL):c.6840G>A (p.Gln2280=)
NM_133433.4(NIPBL):c.6846T>C (p.Tyr2282=)
NM_133433.4(NIPBL):c.6864G>T (p.Glu2288Asp)
NM_133433.4(NIPBL):c.6886A>G (p.Ser2296Gly) rs1401102641
NM_133433.4(NIPBL):c.6911T>G (p.Val2304Gly) rs2149737924
NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu) rs1064796744
NM_133433.4(NIPBL):c.6977T>G (p.Met2326Arg)
NM_133433.4(NIPBL):c.7008C>A (p.Asn2336Lys)
NM_133433.4(NIPBL):c.7024C>T (p.Leu2342Phe) rs587784031
NM_133433.4(NIPBL):c.7068A>G (p.Lys2356=)
NM_133433.4(NIPBL):c.7118C>T (p.Thr2373Ile)
NM_133433.4(NIPBL):c.7135G>A (p.Val2379Ile)
NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser)
NM_133433.4(NIPBL):c.7263+3A>G rs1554033589
NM_133433.4(NIPBL):c.7348_7350del (p.Met2450del) rs587784041
NM_133433.4(NIPBL):c.7357A>G (p.Ile2453Val)
NM_133433.4(NIPBL):c.7372T>C (p.Ser2458Pro) rs2149750216
NM_133433.4(NIPBL):c.7414A>G (p.Met2472Val)
NM_133433.4(NIPBL):c.7422G>C (p.Lys2474Asn)
NM_133433.4(NIPBL):c.7451C>T (p.Pro2484Leu)
NM_133433.4(NIPBL):c.7454G>C (p.Ser2485Thr)
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp)
NM_133433.4(NIPBL):c.7465G>A (p.Glu2489Lys) rs1561224805
NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del)
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val)
NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe) rs759115050
NM_133433.4(NIPBL):c.7499C>T (p.Pro2500Leu)
NM_133433.4(NIPBL):c.7502G>A (p.Arg2501Gln)
NM_133433.4(NIPBL):c.7503G>T (p.Arg2501=) rs1754384795
NM_133433.4(NIPBL):c.7523A>G (p.Asp2508Gly) rs1754386332
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3]) rs587784044
NM_133433.4(NIPBL):c.7549G>A (p.Asp2517Asn)
NM_133433.4(NIPBL):c.7553A>G (p.Asp2518Gly) rs756187678
NM_133433.4(NIPBL):c.7586A>G (p.Asn2529Ser)
NM_133433.4(NIPBL):c.760C>T (p.Leu254=)
NM_133433.4(NIPBL):c.7612A>C (p.Asn2538His)
NM_133433.4(NIPBL):c.7625G>A (p.Gly2542Asp) rs587784045
NM_133433.4(NIPBL):c.771C>T (p.Asp257=)
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys) rs80358351
NM_133433.4(NIPBL):c.7748A>G (p.Lys2583Arg)
NM_133433.4(NIPBL):c.7793G>A (p.Arg2598Gln)
NM_133433.4(NIPBL):c.7808A>C (p.Asn2603Thr) rs2149755591
NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu) rs886060560
NM_133433.4(NIPBL):c.784T>C (p.Ser262Pro)
NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
NM_133433.4(NIPBL):c.7895AAG[4] (p.Glu2636del)
NM_133433.4(NIPBL):c.790A>G (p.Met264Val)
NM_133433.4(NIPBL):c.8049+6G>A
NM_133433.4(NIPBL):c.8086G>A (p.Glu2696Lys)
NM_133433.4(NIPBL):c.8111G>A (p.Ser2704Asn)
NM_133433.4(NIPBL):c.812C>T (p.Pro271Leu)
NM_133433.4(NIPBL):c.8236G>A (p.Gly2746Ser) rs886060561
NM_133433.4(NIPBL):c.824C>T (p.Pro275Leu)
NM_133433.4(NIPBL):c.8291A>G (p.Asp2764Gly)
NM_133433.4(NIPBL):c.8294C>T (p.Thr2765Ile)
NM_133433.4(NIPBL):c.8296_8301del (p.Ile2766_Lys2767del)
NM_133433.4(NIPBL):c.8299A>G (p.Lys2767Glu) rs2149761150
NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val)
NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser)
NM_133433.4(NIPBL):c.8336C>T (p.Thr2779Met) rs587784057
NM_133433.4(NIPBL):c.8368C>G (p.Gln2790Glu)
NM_133433.4(NIPBL):c.836G>A (p.Cys279Tyr)
NM_133433.4(NIPBL):c.8370del (p.Thr2791fs) rs1755229121
NM_133433.4(NIPBL):c.837C>G (p.Cys279Trp)
NM_133433.4(NIPBL):c.838T>G (p.Ser280Ala)
NM_133433.4(NIPBL):c.8392G>A (p.Ala2798Thr)
NM_133433.4(NIPBL):c.842C>G (p.Pro281Arg)
NM_133433.4(NIPBL):c.868+4C>G
NM_133433.4(NIPBL):c.868+4C>T
NM_133433.4(NIPBL):c.873A>C (p.Ser291=) rs1743370604
NM_133433.4(NIPBL):c.889C>G (p.Leu297Val)
NM_133433.4(NIPBL):c.893A>T (p.Gln298Leu)
NM_133433.4(NIPBL):c.894A>G (p.Gln298=) rs587784064
NM_133433.4(NIPBL):c.904C>G (p.Leu302Val)
NM_133433.4(NIPBL):c.923G>A (p.Arg308Gln)
NM_133433.4(NIPBL):c.938A>G (p.Asp313Gly)
NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr)
NM_133433.4(NIPBL):c.971A>T (p.Lys324Met)

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