ClinVar Miner

List of variants in gene NIPBL reported as uncertain significance for Cornelia de Lange syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP
NM_133433.3(NIPBL):c.3856-?_4239+?del
NM_133433.4(NIPBL):c.-153dup rs567891305
NM_133433.4(NIPBL):c.-265A>G rs879291582
NM_133433.4(NIPBL):c.-338C>T rs886060556
NM_133433.4(NIPBL):c.-379G>A rs886060555
NM_133433.4(NIPBL):c.-410C>T rs886060554
NM_133433.4(NIPBL):c.-416dup rs886060553
NM_133433.4(NIPBL):c.-424T>C rs886060552
NM_133433.4(NIPBL):c.-428G>C rs886060551
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) rs80358349
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly) rs894352601
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg) rs150837768
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met) rs574981584
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser) rs144289137
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.4(NIPBL):c.230+5G>A
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu) rs587783904
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln) rs757394370
NM_133433.4(NIPBL):c.2505G>T (p.Gly835=) rs587783908
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) rs1554017428
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=) rs371566938
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val) rs749926228
NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg)
NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met) rs1561119475
NM_133433.4(NIPBL):c.3103C>G (p.Pro1035Ala) rs587783915
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn) rs587783920
NM_133433.4(NIPBL):c.3369A>C (p.Arg1123Ser) rs140344071
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836
NM_133433.4(NIPBL):c.3487C>T (p.Pro1163Ser) rs761353689
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe) rs540365485
NM_133433.4(NIPBL):c.3503-9T>G rs587783924
NM_133433.4(NIPBL):c.358+3G>C
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser) rs143152112
NM_133433.4(NIPBL):c.3856-12A>C rs199847583
NM_133433.4(NIPBL):c.3868G>A (p.Glu1290Lys) rs587783935
NM_133433.4(NIPBL):c.3868_3870GAA[3] (p.Glu1293del)
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.3923C>A (p.Ala1308Glu)
NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=) rs373206831
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) rs749296628
NM_133433.4(NIPBL):c.4422G>T (p.Arg1474Ser) rs80358358
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg) rs1554022448
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys) rs780708835
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln) rs886060558
NM_133433.4(NIPBL):c.5330T>G (p.Ile1777Ser) rs587783970
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg) rs483353060
NM_133433.4(NIPBL):c.5464G>T (p.Asp1822Tyr) rs587783976
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu) rs370593530
NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe) rs1554030218
NM_133433.4(NIPBL):c.6037A>C (p.Ser2013Arg) rs587783989
NM_133433.4(NIPBL):c.6067C>A (p.His2023Asn) rs587783990
NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg) rs587783991
NM_133433.4(NIPBL):c.6071C>A (p.Ala2024Glu) rs587783992
NM_133433.4(NIPBL):c.6108+7A>G rs587783995
NM_133433.4(NIPBL):c.611-10T>C rs368836554
NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln)
NM_133433.4(NIPBL):c.6182C>T (p.Pro2061Leu) rs587783999
NM_133433.4(NIPBL):c.6343+5G>A rs80358383
NM_133433.4(NIPBL):c.64+6T>A rs1554010766
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp)
NM_133433.4(NIPBL):c.6568A>G (p.Thr2190Ala) rs587784014
NM_133433.4(NIPBL):c.6589+9A>T rs370709104
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met)
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.678G>A (p.Pro226=) rs192822119
NM_133433.4(NIPBL):c.6993A>G (p.Glu2331=) rs587784028
NM_133433.4(NIPBL):c.7024C>T (p.Leu2342Phe) rs587784031
NM_133433.4(NIPBL):c.7263+3A>G rs1554033589
NM_133433.4(NIPBL):c.7348_7350del (p.Met2450del) rs587784041
NM_133433.4(NIPBL):c.7362C>T (p.Asp2454=) rs886060559
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val) rs1554034831
NM_133433.4(NIPBL):c.7524_7529TTCAGA[3] (p.2508_2509DS[3]) rs587784044
NM_133433.4(NIPBL):c.7625G>A (p.Gly2542Asp) rs587784045
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=) rs587784046
NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu) rs886060560
NM_133433.4(NIPBL):c.894A>G (p.Gln298=) rs587784064

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