ClinVar Miner

List of variants in gene NIPBL studied for Cornelia de Lange Syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_133433.3(NIPBL):c.-153dupC rs567891305
NM_133433.3(NIPBL):c.-243A>C rs544681871
NM_133433.3(NIPBL):c.-265A>G rs879291582
NM_133433.3(NIPBL):c.-307C>T rs377354585
NM_133433.3(NIPBL):c.-312T>A rs540966156
NM_133433.3(NIPBL):c.-338C>T rs886060556
NM_133433.3(NIPBL):c.-379G>A rs886060555
NM_133433.3(NIPBL):c.-410C>T rs886060554
NM_133433.3(NIPBL):c.-416dupC rs886060553
NM_133433.3(NIPBL):c.-424T>C rs886060552
NM_133433.3(NIPBL):c.-428G>C rs886060551
NM_133433.3(NIPBL):c.-429delC rs376839773
NM_133433.3(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703
NM_133433.3(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321
NM_133433.3(NIPBL):c.1376T>G (p.Ile459Arg) rs150837768
NM_133433.3(NIPBL):c.1495+8_1495+10delAAT rs398124464
NM_133433.3(NIPBL):c.1721A>G (p.Asn574Ser) rs144289137
NM_133433.3(NIPBL):c.179A>G (p.Asn60Ser) rs142703446
NM_133433.3(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324
NM_133433.3(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.3(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.3(NIPBL):c.198C>G (p.Val66=) rs146033170
NM_133433.3(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471
NM_133433.3(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152
NM_133433.3(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.3(NIPBL):c.2469A>G (p.Lys823=) rs293756
NM_133433.3(NIPBL):c.2501G>A (p.Arg834Gln) rs757394370
NM_133433.3(NIPBL):c.2856G>A (p.Ala952=) rs371566938
NM_133433.3(NIPBL):c.2926A>G (p.Met976Val) rs749926228
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.3121+11T>G rs457583
NM_133433.3(NIPBL):c.3423A>G (p.Ser1141=) rs571024836
NM_133433.3(NIPBL):c.3487C>T (p.Pro1163Ser) rs761353689
NM_133433.3(NIPBL):c.3541A>C (p.Arg1181=) rs35748854
NM_133433.3(NIPBL):c.4041A>G (p.Thr1347=) rs373206831
NM_133433.3(NIPBL):c.4240-14T>G rs298972
NM_133433.3(NIPBL):c.4320+14A>G rs377381536
NM_133433.3(NIPBL):c.4321-15A>G rs587783946
NM_133433.3(NIPBL):c.4374T>G (p.Thr1458=) rs749296628
NM_133433.3(NIPBL):c.4421+7A>G rs76297333
NM_133433.3(NIPBL):c.4561-9T>A rs79924167
NM_133433.3(NIPBL):c.4699C>A (p.Gln1567Lys) rs780708835
NM_133433.3(NIPBL):c.4776+12G>A rs199632698
NM_133433.3(NIPBL):c.5168G>A (p.Arg1723Gln) rs886060558
NM_133433.3(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
NM_133433.3(NIPBL):c.5709+4G>A rs370325589
NM_133433.3(NIPBL):c.5710-13C>T rs562131143
NM_133433.3(NIPBL):c.5874C>T (p.Ser1958=) rs61748200
NM_133433.3(NIPBL):c.6109-3T>C rs145778995
NM_133433.3(NIPBL):c.615G>A (p.Ser205=) rs150678035
NM_133433.3(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133433.3(NIPBL):c.6645A>G (p.Leu2215=) rs149186951
NM_133433.3(NIPBL):c.7362C>T (p.Asp2454=) rs886060559
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.7843G>C (p.Val2615Leu) rs886060560

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.