ClinVar Miner

List of variants in gene NIPBL reported as pathogenic by GeneDx

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Total variants: 19
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HGVS dbSNP
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1942_1954delinsCTT (p.Thr648fs) rs886041274
NM_133433.4(NIPBL):c.2315del (p.Ser772fs) rs1064796481
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.3058_3059AG[1] (p.Glu1021fs) rs587783914
NM_133433.4(NIPBL):c.40dup (p.Ala14fs) rs886041275
NM_133433.4(NIPBL):c.4512dup (p.Pro1505fs) rs1554022466
NM_133433.4(NIPBL):c.4782_4786TCAGT[1] (p.Gln1595_Phe1596insTer) rs886041810
NM_133433.4(NIPBL):c.5262C>A (p.Cys1754Ter) rs1554025252
NM_133433.4(NIPBL):c.5509C>T (p.Arg1837Ter) rs1554025780
NM_133433.4(NIPBL):c.5829dup (p.Gly1944fs) rs1554027083
NM_133433.4(NIPBL):c.6156G>C (p.Glu2052Asp) rs886039531
NM_133433.4(NIPBL):c.6712del (p.Gln2238fs) rs1554032826
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7435_7436GA[2] (p.Arg2480fs) rs587784043
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs) rs80358368
NM_133433.4(NIPBL):c.7855del (p.Tyr2618_Leu2619insTer) rs1554035316
NM_133433.4(NIPBL):c.7861-2del rs886039468

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