ClinVar Miner

List of variants in gene NIPBL reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 301
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
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.179A>G (p.Asn60Ser) rs142703446 0.00029
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.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.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.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.1629T>C (p.Ile543=) rs778086908 0.00004
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.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.5226-4G>A rs370826969 0.00002
NM_133433.4(NIPBL):c.8414A>G (p.Ter2805=) rs778876578 0.00002
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.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.2910T>C (p.Thr970=) rs1045615108 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.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.772-8A>G rs398124473 0.00001
NM_133433.4(NIPBL):c.1026G>A (p.Ala342=)
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.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.1905A>G (p.Ser635=) rs1211776361
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.2602C>A (p.Arg868=) rs398124466
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.2802C>T (p.His934=) rs748966128
NM_133433.4(NIPBL):c.2868T>C (p.Phe956=) rs760895817
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.3369A>G (p.Arg1123=) rs140344071
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.3708T>A (p.His1236Gln) rs1580442766
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.4321-6A>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.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.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.6069T>C (p.His2023=) rs1561196903
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.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.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.6919T>C (p.Leu2307=) rs1579572689
NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=)
NM_133433.4(NIPBL):c.6945T>C (p.His2315=) rs1579572757
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.6955-8dup rs1482921708
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.7410+10A>C rs1579599980
NM_133433.4(NIPBL):c.7446A>G (p.Ser2482=)
NM_133433.4(NIPBL):c.7449A>G (p.Ser2483=) rs1579605088
NM_133433.4(NIPBL):c.7473C>T (p.Ser2491=)
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.8148A>G (p.Pro2716=) rs1579633711
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=)

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