ClinVar Miner

List of variants in gene NIPBL reported as benign by GeneDx

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.4(NIPBL):c.3121+11T>G rs457583
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854
NM_133433.4(NIPBL):c.3855+52A>G
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.4239+53T>C
NM_133433.4(NIPBL):c.4240-14T>G rs298972
NM_133433.4(NIPBL):c.4421+7A>G rs76297333
NM_133433.4(NIPBL):c.4561-16C>T rs115403650
NM_133433.4(NIPBL):c.4921-59G>A
NM_133433.4(NIPBL):c.5575-193T>C
NM_133433.4(NIPBL):c.5809-203C>A
NM_133433.4(NIPBL):c.5972-186_5972-185insATGT
NM_133433.4(NIPBL):c.6498+142A>G
NM_133433.4(NIPBL):c.65-17G>C rs201348552
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.4(NIPBL):c.7860+141A>G

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