List of variants in gene NIPBL reported as likely benign by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.3575-17A>G	rs78827246	0.12109
NM_133433.4(NIPBL):c.4320+14A>G	rs377381536	0.00186
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=)	rs148542094	0.00056
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=)	rs145952190	0.00051
NM_133433.4(NIPBL):c.198C>G (p.Val66=)	rs146033170	0.00036
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)	rs80358359	0.00028
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=)	rs376637245	0.00016
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser)	rs190086412	0.00007
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)	rs587783913	0.00004
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys)	rs587784058	0.00004
NM_133433.4(NIPBL):c.3768+34T>G	rs149115930	0.00003
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly)	rs587784018	0.00003
NM_133433.4(NIPBL):c.126T>C (p.Phe42=)	rs727504046	0.00002
NM_133433.4(NIPBL):c.1817C>T (p.Pro606Leu)	rs958483468	0.00002
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser)	rs587783983	0.00002
NM_133433.4(NIPBL):c.1164T>C (p.Asn388=)	rs768113851	0.00001
NM_133433.4(NIPBL):c.1526C>G (p.Ser509Cys)	rs80358352	0.00001
NM_133433.4(NIPBL):c.3347A>G (p.Glu1116Gly)	rs552620284	0.00001
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=)	rs143252734	0.00001
NM_133433.4(NIPBL):c.4777-12T>C	rs80358381	0.00001
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=)	rs372730081	0.00001
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu)	rs80358365
NM_133433.4(NIPBL):c.4240-7T>C	rs587783943
NM_133433.4(NIPBL):c.4535A>T (p.Asn1512Ile)	rs587783949
NM_133433.4(NIPBL):c.5226-14A>G	rs587783964
NM_133433.4(NIPBL):c.5863-10_5863-3dup	rs1554029659
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)	rs761030463
NM_133433.4(NIPBL):c.6250-6T>C	rs587784001
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr)	rs587784006
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys)	rs80358351
NM_133433.4(NIPBL):c.8225G>T (p.Gly2742Val)	rs587784054
NM_133433.4(NIPBL):c.87A>G (p.Pro29=)	rs587784061

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