ClinVar Miner

List of variants in gene NIPBL reported as likely benign for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 318
Download table as spreadsheet
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 0.00354
NM_133433.4(NIPBL):c.-312T>A rs540966156 0.00284
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_133433.4(NIPBL):c.5709+4G>A rs370325589 0.00050
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.7807A>T (p.Asn2603Tyr) rs138514909 0.00043
NM_133433.4(NIPBL):c.5011-13A>G rs13177643 0.00038
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.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.1992C>T (p.Asn664=) rs116049172 0.00019
NM_133433.4(NIPBL):c.3665-10G>A rs200744764 0.00017
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=) rs376637245 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.2448T>C (p.Arg816=) rs139177541 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.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_133433.4(NIPBL):c.6390C>T (p.Asn2130=) rs141545751 0.00011
NM_133433.4(NIPBL):c.4776+12G>A rs199632698 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.4374T>G (p.Thr1458=) rs749296628 0.00009
NM_133433.4(NIPBL):c.458+7T>C rs200829209 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.2105C>T (p.Thr702Ile) rs372162252 0.00007
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.6589+9A>T rs370709104 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.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.2931A>G (p.Glu977=) rs587783913 0.00004
NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser) rs557147929 0.00004
NM_133433.4(NIPBL):c.5472G>A (p.Ser1824=) rs369177620 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.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.4203A>G (p.Leu1401=) rs1356246775 0.00003
NM_133433.4(NIPBL):c.458+18C>T rs759013143 0.00003
NM_133433.4(NIPBL):c.4683G>C (p.Leu1561=) rs756897581 0.00003
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly) rs587784018 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.2616T>C (p.His872=) rs750703789 0.00002
NM_133433.4(NIPBL):c.2877G>A (p.Pro959=) rs1038314771 0.00002
NM_133433.4(NIPBL):c.300G>A (p.Leu100=) rs768550843 0.00002
NM_133433.4(NIPBL):c.3018A>G (p.Gln1006=) rs776669672 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.4699C>A (p.Gln1567Lys) rs780708835 0.00002
NM_133433.4(NIPBL):c.5226-4G>A rs370826969 0.00002
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser) rs587783983 0.00002
NM_133433.4(NIPBL):c.8414A>G (p.Ter2805=) rs778876578 0.00002
NM_133433.4(NIPBL):c.1178A>G (p.Asn393Ser) rs777670369 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.1496-9A>G rs754119799 0.00001
NM_133433.4(NIPBL):c.230+10A>T rs1342924796 0.00001
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=) rs587783903 0.00001
NM_133433.4(NIPBL):c.2703T>C (p.Asn901=) rs774346043 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.4087+9G>A rs757255852 0.00001
NM_133433.4(NIPBL):c.4161T>C (p.Tyr1387=) rs752419634 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.5403T>C (p.Ala1801=) rs1394378576 0.00001
NM_133433.4(NIPBL):c.585C>T (p.Tyr195=) rs80358360 0.00001
NM_133433.4(NIPBL):c.606A>G (p.Gln202=) rs1233849776 0.00001
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=) rs372730081 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.772-8A>G rs398124473 0.00001
NM_133433.4(NIPBL):c.*282_*285del rs535770794
NM_133433.4(NIPBL):c.*84dup rs587783876
NM_133433.4(NIPBL):c.-429del rs376839773
NM_133433.4(NIPBL):c.1026G>A (p.Ala342=)
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321
NM_133433.4(NIPBL):c.1254A>G (p.Gln418=)
NM_133433.4(NIPBL):c.1278A>G (p.Thr426=)
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=)
NM_133433.4(NIPBL):c.132A>G (p.Ala44=)
NM_133433.4(NIPBL):c.1425T>C (p.Ala475=)
NM_133433.4(NIPBL):c.1495+11C>G
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1584G>A (p.Thr528=)
NM_133433.4(NIPBL):c.1686C>T (p.Asp562=)
NM_133433.4(NIPBL):c.1797A>G (p.Thr599=)
NM_133433.4(NIPBL):c.1807A>C (p.Lys603Gln)
NM_133433.4(NIPBL):c.1893G>A (p.Val631=)
NM_133433.4(NIPBL):c.1920A>G (p.Leu640=)
NM_133433.4(NIPBL):c.2025A>G (p.Glu675=)
NM_133433.4(NIPBL):c.2058C>T (p.Asn686=)
NM_133433.4(NIPBL):c.2187T>A (p.Gly729=)
NM_133433.4(NIPBL):c.2205T>C (p.Thr735=)
NM_133433.4(NIPBL):c.2228G>A (p.Arg743His)
NM_133433.4(NIPBL):c.230+18T>C
NM_133433.4(NIPBL):c.230+19A>G
NM_133433.4(NIPBL):c.2310G>A (p.Lys770=)
NM_133433.4(NIPBL):c.2331T>C (p.Pro777=)
NM_133433.4(NIPBL):c.2472A>C (p.Ser824=)
NM_133433.4(NIPBL):c.2514T>G (p.Ser838=)
NM_133433.4(NIPBL):c.2643A>G (p.Pro881=)
NM_133433.4(NIPBL):c.2682T>C (p.Arg894=)
NM_133433.4(NIPBL):c.2709A>T (p.Ser903=)
NM_133433.4(NIPBL):c.2751T>C (p.Asp917=)
NM_133433.4(NIPBL):c.2754C>T (p.Asp918=)
NM_133433.4(NIPBL):c.2871C>T (p.Val957=)
NM_133433.4(NIPBL):c.2901C>A (p.Gly967=)
NM_133433.4(NIPBL):c.297C>T (p.Val99=)
NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met) rs1561119475
NM_133433.4(NIPBL):c.3121+19A>C
NM_133433.4(NIPBL):c.3121+7A>C
NM_133433.4(NIPBL):c.3122-17T>G
NM_133433.4(NIPBL):c.3255T>C (p.Tyr1085=)
NM_133433.4(NIPBL):c.3305-17T>C
NM_133433.4(NIPBL):c.3318A>G (p.Arg1106=)
NM_133433.4(NIPBL):c.3405T>C (p.His1135=)
NM_133433.4(NIPBL):c.3429T>C (p.Gly1143=)
NM_133433.4(NIPBL):c.3452C>T (p.Pro1151Leu) rs1746665222
NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=)
NM_133433.4(NIPBL):c.348T>C (p.Tyr116=)
NM_133433.4(NIPBL):c.3502+20G>A
NM_133433.4(NIPBL):c.3503-12T>C
NM_133433.4(NIPBL):c.3537G>A (p.Lys1179=)
NM_133433.4(NIPBL):c.3575-19A>G
NM_133433.4(NIPBL):c.3575-9C>T
NM_133433.4(NIPBL):c.3664+11C>T
NM_133433.4(NIPBL):c.3664+19A>G
NM_133433.4(NIPBL):c.3664+8C>T
NM_133433.4(NIPBL):c.3768+15T>C
NM_133433.4(NIPBL):c.3769-8T>A
NM_133433.4(NIPBL):c.3786T>C (p.Thr1262=)
NM_133433.4(NIPBL):c.3834G>A (p.Lys1278=)
NM_133433.4(NIPBL):c.3856-10T>G rs2149676690
NM_133433.4(NIPBL):c.3856-18A>G
NM_133433.4(NIPBL):c.3856-23_3856-13del
NM_133433.4(NIPBL):c.3873A>G (p.Glu1291=)
NM_133433.4(NIPBL):c.3947A>G (p.Asn1316Ser) rs1580451626
NM_133433.4(NIPBL):c.3957A>G (p.Thr1319=)
NM_133433.4(NIPBL):c.4087+15_4087+20del
NM_133433.4(NIPBL):c.4087+18C>G
NM_133433.4(NIPBL):c.4087+9del
NM_133433.4(NIPBL):c.4088-6T>C
NM_133433.4(NIPBL):c.4088-8del
NM_133433.4(NIPBL):c.4088-9T>C
NM_133433.4(NIPBL):c.4146A>G (p.Val1382=)
NM_133433.4(NIPBL):c.4239+7T>C
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
NM_133433.4(NIPBL):c.4335T>C (p.Tyr1445=)
NM_133433.4(NIPBL):c.4421+15_4421+16del
NM_133433.4(NIPBL):c.4421+18_4421+19del
NM_133433.4(NIPBL):c.4421+20G>T
NM_133433.4(NIPBL):c.4449A>G (p.Glu1483=)
NM_133433.4(NIPBL):c.444A>G (p.Ser148=)
NM_133433.4(NIPBL):c.4524G>A (p.Glu1508=)
NM_133433.4(NIPBL):c.453C>T (p.Pro151=)
NM_133433.4(NIPBL):c.4560+19G>A
NM_133433.4(NIPBL):c.4560+19G>T
NM_133433.4(NIPBL):c.458+17del
NM_133433.4(NIPBL):c.458+19G>A
NM_133433.4(NIPBL):c.458+9T>C
NM_133433.4(NIPBL):c.4587C>T (p.Asn1529=)
NM_133433.4(NIPBL):c.45G>C (p.Gly15=)
NM_133433.4(NIPBL):c.4617A>G (p.Gln1539=)
NM_133433.4(NIPBL):c.462G>A (p.Arg154=) rs769203117
NM_133433.4(NIPBL):c.4643+10A>G
NM_133433.4(NIPBL):c.4644-16A>G
NM_133433.4(NIPBL):c.4650T>A (p.Gly1550=)
NM_133433.4(NIPBL):c.4776+11_4776+12insTTAT
NM_133433.4(NIPBL):c.4777-16C>A
NM_133433.4(NIPBL):c.4777-6A>G
NM_133433.4(NIPBL):c.4830T>G (p.Leu1610=)
NM_133433.4(NIPBL):c.4921-4A>G
NM_133433.4(NIPBL):c.4940A>G (p.Glu1647Gly)
NM_133433.4(NIPBL):c.4962A>G (p.Ala1654=)
NM_133433.4(NIPBL):c.5010+18T>C
NM_133433.4(NIPBL):c.5011-16T>G
NM_133433.4(NIPBL):c.5011-19C>G
NM_133433.4(NIPBL):c.5011-8C>T
NM_133433.4(NIPBL):c.5037G>A (p.Gln1679=)
NM_133433.4(NIPBL):c.5052A>G (p.Thr1684=)
NM_133433.4(NIPBL):c.5118T>C (p.His1706=)
NM_133433.4(NIPBL):c.5226-11T>C
NM_133433.4(NIPBL):c.5295G>C (p.Pro1765=) rs758853244
NM_133433.4(NIPBL):c.5307C>T (p.Ser1769=)
NM_133433.4(NIPBL):c.5328+20C>T
NM_133433.4(NIPBL):c.5421A>G (p.Leu1807=)
NM_133433.4(NIPBL):c.5427+16G>A
NM_133433.4(NIPBL):c.5427+20C>T
NM_133433.4(NIPBL):c.5427+24_5427+27del
NM_133433.4(NIPBL):c.5428-20T>G
NM_133433.4(NIPBL):c.5458T>C (p.Leu1820=)
NM_133433.4(NIPBL):c.546C>T (p.Ser182=)
NM_133433.4(NIPBL):c.5574+11C>A
NM_133433.4(NIPBL):c.5574+7T>G
NM_133433.4(NIPBL):c.5710-13C>G
NM_133433.4(NIPBL):c.5802C>T (p.Thr1934=)
NM_133433.4(NIPBL):c.5809-18T>A
NM_133433.4(NIPBL):c.5811T>G (p.Val1937=)
NM_133433.4(NIPBL):c.5863-19_5863-2del rs753611931
NM_133433.4(NIPBL):c.5972-14G>C
NM_133433.4(NIPBL):c.5972-16_5972-15del
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=) rs761030463
NM_133433.4(NIPBL):c.5997T>C (p.Ser1999=) rs2149721385
NM_133433.4(NIPBL):c.6024T>G (p.Thr2008=)
NM_133433.4(NIPBL):c.6051C>G (p.Pro2017=)
NM_133433.4(NIPBL):c.6072A>G (p.Ala2024=) rs745516748
NM_133433.4(NIPBL):c.6108+13C>T
NM_133433.4(NIPBL):c.6108+7A>G rs587783995
NM_133433.4(NIPBL):c.611-14_611-12del
NM_133433.4(NIPBL):c.611-8A>G
NM_133433.4(NIPBL):c.6111G>A (p.Thr2037=)
NM_133433.4(NIPBL):c.6171G>A (p.Leu2057=) rs1579556694
NM_133433.4(NIPBL):c.6177G>A (p.Glu2059=)
NM_133433.4(NIPBL):c.6219A>G (p.Leu2073=)
NM_133433.4(NIPBL):c.6249+14T>G rs2149730972
NM_133433.4(NIPBL):c.6249+17C>T
NM_133433.4(NIPBL):c.6249+18C>G
NM_133433.4(NIPBL):c.6250-11A>G
NM_133433.4(NIPBL):c.6250-13C>T
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_133433.4(NIPBL):c.6384A>C (p.Pro2128=)
NM_133433.4(NIPBL):c.6384A>G (p.Pro2128=)
NM_133433.4(NIPBL):c.6399T>C (p.Leu2133=)
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133433.4(NIPBL):c.6450A>G (p.Leu2150=)
NM_133433.4(NIPBL):c.6516A>G (p.Lys2172=)
NM_133433.4(NIPBL):c.6589+13T>C
NM_133433.4(NIPBL):c.6597C>G (p.Ala2199=)
NM_133433.4(NIPBL):c.6717C>G (p.Thr2239=)
NM_133433.4(NIPBL):c.6763+13A>G
NM_133433.4(NIPBL):c.6763+18T>C
NM_133433.4(NIPBL):c.6764-10G>A
NM_133433.4(NIPBL):c.6764-6T>C
NM_133433.4(NIPBL):c.6769A>G (p.Lys2257Glu) rs947067048
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)
NM_133433.4(NIPBL):c.6792A>G (p.Leu2264=)
NM_133433.4(NIPBL):c.6819G>A (p.Gly2273=)
NM_133433.4(NIPBL):c.6825T>C (p.Ser2275=)
NM_133433.4(NIPBL):c.6888T>C (p.Ser2296=)
NM_133433.4(NIPBL):c.6918A>G (p.Ala2306=)
NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=)
NM_133433.4(NIPBL):c.6954+13T>G
NM_133433.4(NIPBL):c.6954+18C>T
NM_133433.4(NIPBL):c.6954+7A>G
NM_133433.4(NIPBL):c.6955-20A>T
NM_133433.4(NIPBL):c.6963A>G (p.Pro2321=)
NM_133433.4(NIPBL):c.7062+7_7062+8del
NM_133433.4(NIPBL):c.7063-11A>C
NM_133433.4(NIPBL):c.708T>G (p.Ala236=)
NM_133433.4(NIPBL):c.7119A>G (p.Thr2373=)
NM_133433.4(NIPBL):c.7149A>G (p.Arg2383=)
NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=)
NM_133433.4(NIPBL):c.7164T>C (p.Ser2388=)
NM_133433.4(NIPBL):c.7218A>G (p.Arg2406=) rs1579583689
NM_133433.4(NIPBL):c.7264-19T>C
NM_133433.4(NIPBL):c.7264-7T>C
NM_133433.4(NIPBL):c.7446A>G (p.Ser2482=)
NM_133433.4(NIPBL):c.7473C>T (p.Ser2491=)
NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg) rs1216631170
NM_133433.4(NIPBL):c.771+20T>G
NM_133433.4(NIPBL):c.772-12C>T
NM_133433.4(NIPBL):c.7737G>A (p.Ala2579=)
NM_133433.4(NIPBL):c.7758T>G (p.Val2586=)
NM_133433.4(NIPBL):c.7788C>T (p.Phe2596=)
NM_133433.4(NIPBL):c.7861-9T>G
NM_133433.4(NIPBL):c.7872C>T (p.Leu2624=)
NM_133433.4(NIPBL):c.7914G>A (p.Glu2638=)
NM_133433.4(NIPBL):c.7956A>C (p.Ser2652=)
NM_133433.4(NIPBL):c.8007T>C (p.Asp2669=)
NM_133433.4(NIPBL):c.8049+7C>T
NM_133433.4(NIPBL):c.8050-8T>C
NM_133433.4(NIPBL):c.807T>G (p.Ser269=)
NM_133433.4(NIPBL):c.8118C>T (p.Asp2706=)
NM_133433.4(NIPBL):c.8133C>T (p.Ile2711=)
NM_133433.4(NIPBL):c.8247T>C (p.Thr2749=)
NM_133433.4(NIPBL):c.8283T>C (p.Pro2761=)
NM_133433.4(NIPBL):c.8316T>A (p.Ile2772=)
NM_133433.4(NIPBL):c.834A>G (p.Val278=) rs377714862
NM_133433.4(NIPBL):c.834A>T (p.Val278=)
NM_133433.4(NIPBL):c.8391C>T (p.Ala2797=) rs997526101
NM_133433.4(NIPBL):c.843T>C (p.Pro281=)
NM_133433.4(NIPBL):c.868+16A>G
NM_133433.4(NIPBL):c.868+17A>G
NM_133433.4(NIPBL):c.868+8T>A
NM_133433.4(NIPBL):c.869-15G>A
NM_133433.4(NIPBL):c.879A>G (p.Pro293=)
NM_133433.4(NIPBL):c.904C>T (p.Leu302=)
NM_133433.4(NIPBL):c.99T>C (p.Pro33=)

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.