List of variants in gene NIPBL reported as 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: 42

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=)	rs61748200	0.13068
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)	rs3822471	0.12117
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=)	rs293756	0.03533
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=)	rs1669445	0.03530
NM_133433.4(NIPBL):c.4561-16C>T	rs115403650	0.02404
NM_133433.4(NIPBL):c.4421+7A>G	rs76297333	0.02109
NM_133433.4(NIPBL):c.4561-9T>A	rs79924167	0.02103
NM_133433.4(NIPBL):c.4240-14T>G	rs298972	0.01903
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala)	rs16903425	0.01529
NM_133433.4(NIPBL):c.3121+11T>G	rs457583	0.00941
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=)	rs35748854	0.00882
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)	rs80358350	0.00379
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)	rs142923613	0.00365
NM_133433.4(NIPBL):c.6109-3T>C	rs145778995	0.00354
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=)	rs115668015	0.00186
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)	rs142184978	0.00147
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)	rs140100861	0.00095
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)	rs150678035	0.00048
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=)	rs200440893	0.00014
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)	rs368028754	0.00011
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)	rs2291703	0.00009
NM_133433.4(NIPBL):c.2772C>T (p.Asn924=)	rs188565385	0.00004
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp)	rs587783881	0.00001
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=)	rs587783903	0.00001
NM_133433.4(NIPBL):c.5010+9C>A	rs536151596	0.00001
NM_133433.4(NIPBL):c.5211G>A (p.Gln1737=)	rs587783962	0.00001
NM_133433.4(NIPBL):c.*84del	rs587783876
NM_133433.4(NIPBL):c.*84dup	rs587783876
NM_133433.4(NIPBL):c.1495+8_1495+10del	rs398124464
NM_133433.4(NIPBL):c.2325A>G (p.Lys775=)	rs587783900
NM_133433.4(NIPBL):c.3616A>G (p.Ile1206Val)	rs587783929
NM_133433.4(NIPBL):c.4422-12del	rs797045759
NM_133433.4(NIPBL):c.4674C>T (p.Tyr1558=)	rs587783956
NM_133433.4(NIPBL):c.4773G>T (p.Leu1591=)	rs587783958
NM_133433.4(NIPBL):c.5225+13G>A	rs587783963
NM_133433.4(NIPBL):c.5272C>A (p.Arg1758=)	rs587783965
NM_133433.4(NIPBL):c.5709+7T>G	rs587783981
NM_133433.4(NIPBL):c.5863-12_5863-11insAT	rs797045774
NM_133433.4(NIPBL):c.5863-12_5863-11insATAT	rs797045774
NM_133433.4(NIPBL):c.5863-31TA[9]	rs10554564
NM_133433.4(NIPBL):c.6955-9del	rs757731487
NM_133433.4(NIPBL):c.7860+9T>G	rs587784051

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