ClinVar Miner

List of variants in gene NIPBL reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.3665-229A>G rs115419483 0.02771
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.7685+117A>C rs191922218 0.01572
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.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.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.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.-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.7830G>C (p.Val2610=) rs115668015 0.00186
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
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.198C>G (p.Val66=) rs146033170 0.00036
NM_133433.4(NIPBL):c.5809-32C>A rs186880901 0.00033
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.5101T>C (p.Ser1701Pro) rs139819353 0.00024
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00019
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.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.6438C>T (p.Thr2146=) rs376448686 0.00006
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.2931A>G (p.Glu977=) rs587783913 0.00004
NM_133433.4(NIPBL):c.3503-7G>A rs747762848 0.00004
NM_133433.4(NIPBL):c.5472G>A (p.Ser1824=) rs369177620 0.00004
NM_133433.4(NIPBL):c.3112T>A (p.Ser1038Thr) rs747918239 0.00002
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.3630G>A (p.Leu1210=) rs372752190 0.00001
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=) rs143252734 0.00001
NM_133433.4(NIPBL):c.4561-10T>C rs763125929 0.00001
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=) rs758853244 0.00001
NM_133433.4(NIPBL):c.772-8A>G rs398124473 0.00001
NM_133433.4(NIPBL):c.8084C>T (p.Thr2695Met) rs766898203 0.00001
NM_133433.4(NIPBL):c.*282_*285del rs535770794
NM_133433.4(NIPBL):c.-416dup rs886060553
NM_133433.4(NIPBL):c.-79-1563_-79-1540del
NM_133433.4(NIPBL):c.-79-1599TG[15]
NM_133433.4(NIPBL):c.-80+5del rs532015680
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1905A>G (p.Ser635=) rs1211776361
NM_133433.4(NIPBL):c.231-105_231-103del rs141750225
NM_133433.4(NIPBL):c.2602C>A (p.Arg868=) rs398124466
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.3122-22dup rs148066104
NM_133433.4(NIPBL):c.3122-281T>C rs182497470
NM_133433.4(NIPBL):c.3369A>G (p.Arg1123=) rs140344071
NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=)
NM_133433.4(NIPBL):c.3664+221G>A rs140470215
NM_133433.4(NIPBL):c.3708T>A (p.His1236Gln) rs1580442766
NM_133433.4(NIPBL):c.3769-240del rs371536615
NM_133433.4(NIPBL):c.3769-240dup rs371536615
NM_133433.4(NIPBL):c.4421+205dup
NM_133433.4(NIPBL):c.444A>C (p.Ser148=)
NM_133433.4(NIPBL):c.4536T>C (p.Asn1512=)
NM_133433.4(NIPBL):c.4602T>A (p.Ala1534=)
NM_133433.4(NIPBL):c.4602T>C (p.Ala1534=)
NM_133433.4(NIPBL):c.4644-287G>A rs72736710
NM_133433.4(NIPBL):c.5772A>C (p.Glu1924Asp)
NM_133433.4(NIPBL):c.5863-31_5863-30insGTATATATATAT rs767653666
NM_133433.4(NIPBL):c.5863-52del rs202003424
NM_133433.4(NIPBL):c.6069T>C (p.His2023=) rs1561196903
NM_133433.4(NIPBL):c.6343+276_6343+284del rs150726162
NM_133433.4(NIPBL):c.6344-318G>T rs185737095
NM_133433.4(NIPBL):c.6764-164AC[11] rs56972789
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)
NM_133433.4(NIPBL):c.6919T>C (p.Leu2307=) rs1579572689
NM_133433.4(NIPBL):c.6945T>C (p.His2315=) rs1579572757
NM_133433.4(NIPBL):c.6955-8dup rs1482921708
NM_133433.4(NIPBL):c.700_705del (p.His234_His235del) rs779093227
NM_133433.4(NIPBL):c.7410+10A>C rs1579599980
NM_133433.4(NIPBL):c.7449A>G (p.Ser2483=) rs1579605088
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp)
NM_133433.4(NIPBL):c.7593T>C (p.Ala2531=)
NM_133433.4(NIPBL):c.768T>C (p.Ser256=)
NM_133433.4(NIPBL):c.771+262G>A rs148719303
NM_133433.4(NIPBL):c.8049+30G>A
NM_133433.4(NIPBL):c.8148A>G (p.Pro2716=) rs1579633711
NM_133433.4(NIPBL):c.834A>G (p.Val278=) rs377714862
NM_133433.4(NIPBL):c.868+66T>G rs115891600

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