ClinVar Miner

List of variants in gene NIPBL reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.5575-168A>T rs3100685 0.99637
NM_133433.4(NIPBL):c.4239+53T>C rs159753 0.57773
NM_133433.4(NIPBL):c.7860+141A>G rs188541 0.57297
NM_133433.4(NIPBL):c.6498+142A>G rs301859 0.57272
NM_133433.4(NIPBL):c.5574+283G>A rs300061 0.56706
NM_133433.4(NIPBL):c.4921-59G>A rs300060 0.55914
NM_133433.4(NIPBL):c.4560+77A>G rs35011787 0.13874
NM_133433.4(NIPBL):c.5329-220T>C rs35701604 0.13534
NM_133433.4(NIPBL):c.3121+285T>C rs294695 0.13531
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471 0.12117
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_133433.4(NIPBL):c.3855+52A>G rs62654860 0.11985
NM_133433.4(NIPBL):c.4560+121C>T rs62654863 0.11377
NM_133433.4(NIPBL):c.5809-203C>A rs12187383 0.11338
NM_133433.4(NIPBL):c.5575-193T>C rs13181330 0.10455
NM_133433.4(NIPBL):c.4239+152C>G rs41270323 0.08795
NM_133433.4(NIPBL):c.3665-126T>C rs6876156 0.05319
NM_133433.4(NIPBL):c.4776+250A>G rs391366 0.04733
NM_133433.4(NIPBL):c.358+265A>G rs294691 0.04564
NM_133433.4(NIPBL):c.3305-304C>T rs159750 0.04563
NM_133433.4(NIPBL):c.3122-148G>A rs159754 0.04505
NM_133433.4(NIPBL):c.7263+153A>T rs300059 0.04458
NM_133433.4(NIPBL):c.4087+299T>A rs78477452 0.03664
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756 0.03533
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445 0.03530
NM_133433.4(NIPBL):c.6498+64T>A rs56745362 0.03524
NM_133433.4(NIPBL):c.5972-260A>T rs73750920 0.03351
NM_133433.4(NIPBL):c.4561-16C>T rs115403650 0.02404
NM_133433.4(NIPBL):c.611-238G>A rs77660289 0.02286
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_133433.4(NIPBL):c.7263+198G>A rs75847044 0.02107
NM_133433.4(NIPBL):c.4561-86C>T rs116554506 0.02104
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_133433.4(NIPBL):c.7860+39G>A rs113168205 0.02083
NM_133433.4(NIPBL):c.3304+121T>C rs75303479 0.01948
NM_133433.4(NIPBL):c.5574+261T>A rs80290939 0.01929
NM_133433.4(NIPBL):c.4240-14T>G rs298972 0.01903
NM_133433.4(NIPBL):c.5011-62T>C rs16903455 0.01709
NM_133433.4(NIPBL):c.231-149C>T rs111951890 0.01631
NM_133433.4(NIPBL):c.3665-98T>C rs73093870 0.01563
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425 0.01529
NM_133433.4(NIPBL):c.3121+11T>G rs457583 0.00941
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854 0.00882
NM_133433.4(NIPBL):c.5863-30A>G rs199888273 0.00781
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.4422-23C>T rs190647010 0.00325
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_133433.4(NIPBL):c.5575-26T>G rs147563181 0.00232
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449 0.00229
NM_133433.4(NIPBL):c.4240-48C>T rs140932715 0.00196
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_133433.4(NIPBL):c.65-17G>C rs201348552 0.00178
NM_133433.4(NIPBL):c.6764-35C>G rs144405762 0.00144
NM_133433.4(NIPBL):c.1495+38C>A rs192155566 0.00105
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_133433.4(NIPBL):c.7686-47G>A rs374602595 0.00092
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.8337G>A (p.Thr2779=) rs139108785 0.00047
NM_133433.4(NIPBL):c.5427+34C>T rs182380681 0.00044
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_133433.4(NIPBL):c.1986A>C (p.Lys662Asn) rs781213650 0.00031
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605 0.00016
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_133433.4(NIPBL):c.231-103del rs141750225
NM_133433.4(NIPBL):c.231-104_231-103del rs141750225
NM_133433.4(NIPBL):c.3304+136dup rs146311166
NM_133433.4(NIPBL):c.4422-12del rs797045759
NM_133433.4(NIPBL):c.5328+315G>T rs13183090
NM_133433.4(NIPBL):c.5574+298T>C rs16903456
NM_133433.4(NIPBL):c.5862+75dup rs75728277
NM_133433.4(NIPBL):c.5863-31TA[12] rs10554564
NM_133433.4(NIPBL):c.5863-31TA[9] rs10554564
NM_133433.4(NIPBL):c.5972-186_5972-185insATGT rs2307857
NM_133433.4(NIPBL):c.6764-164AC[13] rs56972789
NM_133433.4(NIPBL):c.6764-164AC[14] rs56972789
NM_133433.4(NIPBL):c.771+244dup rs11464185

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