ClinVar Miner

List of variants in gene NIPBL reported by GeneDx

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Gene type:
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Total variants: 75
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HGVS dbSNP
NM_015384.4(NIPBL):c.4512dup (p.Pro1505Thrfs) rs1554022466
NM_133433.3(NIPBL):c.-80+5delA rs532015680
NM_133433.3(NIPBL):c.1212C>T (p.Pro404=) rs80358349
NM_133433.3(NIPBL):c.1273C>G (p.Gln425Glu) rs1554015229
NM_133433.3(NIPBL):c.1302G>C (p.Val434=) rs769279620
NM_133433.3(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.3(NIPBL):c.1392T>A (p.Pro464=) rs555179389
NM_133433.3(NIPBL):c.1495+8_1495+10delAAT rs398124464
NM_133433.3(NIPBL):c.1521A>C (p.Gln507His) rs1085307910
NM_133433.3(NIPBL):c.1942_1954delACAGAAGAACTTAinsCTT (p.Thr648Leufs) rs886041274
NM_133433.3(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.3(NIPBL):c.1979A>G (p.Glu660Gly) rs867081982
NM_133433.3(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167
NM_133433.3(NIPBL):c.2315delC (p.Ser772Leufs) rs1064796481
NM_133433.3(NIPBL):c.2447G>A (p.Arg816His) rs80358359
NM_133433.3(NIPBL):c.2469A>G (p.Lys823=) rs293756
NM_133433.3(NIPBL):c.2479_2480delAG (p.Arg827Glyfs) rs398124465
NM_133433.3(NIPBL):c.2584A>G (p.Lys862Glu) rs1554017428
NM_133433.3(NIPBL):c.2727T>C (p.Gly909=) rs148394805
NM_133433.3(NIPBL):c.2768G>T (p.Gly923Val) rs200991784
NM_133433.3(NIPBL):c.2931A>G (p.Glu977=) rs587783913
NM_133433.3(NIPBL):c.294C>T (p.Ala98=) rs142184978
NM_133433.3(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.3(NIPBL):c.3060_3063delAGAG (p.Glu1021Thrfs) rs587783914
NM_133433.3(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916
NM_133433.3(NIPBL):c.3121+11T>G rs457583
NM_133433.3(NIPBL):c.3139G>T (p.Val1047Leu) rs1057522878
NM_133433.3(NIPBL):c.3410_3413delGAAG (p.Gly1137Glufs) rs1057518050
NM_133433.3(NIPBL):c.3502+17A>C rs144725401
NM_133433.3(NIPBL):c.3660G>A (p.Ala1220=) rs143252734
NM_133433.3(NIPBL):c.3855+4A>C rs1554021100
NM_133433.3(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.3(NIPBL):c.40dupG (p.Ala14Glyfs) rs886041275
NM_133433.3(NIPBL):c.4240-14T>G rs298972
NM_133433.3(NIPBL):c.4253G>A (p.Gly1418Glu) rs1554022000
NM_133433.3(NIPBL):c.4320+14A>G rs377381536
NM_133433.3(NIPBL):c.4421+7A>G rs76297333
NM_133433.3(NIPBL):c.4493T>C (p.Ile1498Thr) rs199570957
NM_133433.3(NIPBL):c.4561-16C>T rs115403650
NM_133433.3(NIPBL):c.4561-2A>G rs1057524427
NM_133433.3(NIPBL):c.4787_4791delTCAGT (p.Phe1596Terfs) rs886041810
NM_133433.3(NIPBL):c.5262C>A (p.Cys1754Ter) rs1554025252
NM_133433.3(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
NM_133433.3(NIPBL):c.5472G>A (p.Ser1824=) rs369177620
NM_133433.3(NIPBL):c.5509C>T (p.Arg1837Ter) rs1554025780
NM_133433.3(NIPBL):c.5710-13_5710-12delCTinsAA rs1064794606
NM_133433.3(NIPBL):c.5829dup (p.Gly1944Trpfs) rs1554027083
NM_133433.3(NIPBL):c.5843T>A (p.Phe1948Tyr) rs1085307579
NM_133433.3(NIPBL):c.5863-12_5863-11dupAT rs10554564
NM_133433.3(NIPBL):c.5863-16A>G rs578098911
NM_133433.3(NIPBL):c.6070G>C (p.Ala2024Pro) rs1064794672
NM_133433.3(NIPBL):c.6108+5G>A rs1057518091
NM_133433.3(NIPBL):c.6109-3T>C rs145778995
NM_133433.3(NIPBL):c.6156G>C (p.Glu2052Asp) rs886039531
NM_133433.3(NIPBL):c.6243C>T (p.Gly2081=) rs1131691272
NM_133433.3(NIPBL):c.6438C>T (p.Thr2146=) rs376448686
NM_133433.3(NIPBL):c.65-17G>C rs201348552
NM_133433.3(NIPBL):c.6712delC (p.Gln2238Argfs) rs1554032826
NM_133433.3(NIPBL):c.6764-4G>C rs757590127
NM_133433.3(NIPBL):c.6845A>G (p.Tyr2282Cys) rs1057524102
NM_133433.3(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.3(NIPBL):c.6962C>T (p.Pro2321Leu) rs1064796744
NM_133433.3(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.3(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.3(NIPBL):c.7301A>G (p.Asn2434Ser) rs80358384
NM_133433.3(NIPBL):c.7439_7440delGA (p.Arg2480Lysfs) rs587784043
NM_133433.3(NIPBL):c.7463A>G (p.Asn2488Ser) rs794727675
NM_133433.3(NIPBL):c.771+2T>A rs1131691967
NM_133433.3(NIPBL):c.775G>A (p.Gly259Arg) rs1064794954
NM_133433.3(NIPBL):c.7789delC (p.Leu2597Cysfs) rs80358368
NM_133433.3(NIPBL):c.781T>G (p.Ser261Ala) rs16903425
NM_133433.3(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.3(NIPBL):c.7855delC (p.Leu2619Terfs) rs1554035316
NM_133433.3(NIPBL):c.7861-2delA rs886039468
NM_133433.3(NIPBL):c.891A>C (p.Leu297=) rs373684382

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