ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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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.5710-59A>G rs188805069 0.00364
NM_133433.4(NIPBL):c.7685+113G>A rs187250694 0.00352
NM_133433.4(NIPBL):c.7686-106T>G rs11948958 0.00272
NM_133433.4(NIPBL):c.3502+17A>C rs144725401 0.00230
NM_133433.4(NIPBL):c.4320+14A>G rs377381536 0.00186
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=) rs148394805 0.00064
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) rs80358349 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.2447G>A (p.Arg816His) rs80358359 0.00028
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro) rs139819353 0.00024
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser) rs190086412 0.00007
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=) rs376448686 0.00006
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.2768G>T (p.Gly923Val) rs200991784 0.00003
NM_133433.4(NIPBL):c.6764-4G>C rs757590127 0.00003
NM_133433.4(NIPBL):c.3112T>A (p.Ser1038Thr) rs747918239 0.00002
NM_133433.4(NIPBL):c.5863-16A>G rs578098911 0.00002
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 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.7463A>G (p.Asn2488Ser) rs794727675 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.-80+5del rs532015680
NM_133433.4(NIPBL):c.1302G>C (p.Val434=) rs769279620
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.231-105_231-103del rs141750225
NM_133433.4(NIPBL):c.3122-22dup rs148066104
NM_133433.4(NIPBL):c.3122-281T>C rs182497470
NM_133433.4(NIPBL):c.3664+221G>A rs140470215
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.4644-287G>A rs72736710
NM_133433.4(NIPBL):c.5863-31TA[11] rs10554564
NM_133433.4(NIPBL):c.5863-31_5863-30insGTATATATATAT rs767653666
NM_133433.4(NIPBL):c.5863-52del rs202003424
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.700_705del (p.His234_His235del) rs779093227
NM_133433.4(NIPBL):c.771+262G>A rs148719303
NM_133433.4(NIPBL):c.868+66T>G rs115891600
NM_133433.4(NIPBL):c.891A>C (p.Leu297=) rs373684382

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