ClinVar Miner

List of variants in gene NIPBL reported as benign for Cornelia de Lange syndrome 1

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_133433.4(NIPBL):c.-243A>C rs544681871
NM_133433.4(NIPBL):c.-307C>T rs377354585
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.4(NIPBL):c.3121+11T>G rs457583
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.4240-14T>G rs298972
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449
NM_133433.4(NIPBL):c.4320+14A>G rs377381536
NM_133433.4(NIPBL):c.4421+7A>G rs76297333
NM_133433.4(NIPBL):c.4561-9T>A rs79924167
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=) rs145952190
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=) rs148542094
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
NM_133433.4(NIPBL):c.5710-13C>T rs562131143
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015

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