List of variants in gene NIPBL reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.3668A>G (p.Asp1223Gly)	rs775247210	0.00001
NM_133433.4(NIPBL):c.5641A>G (p.Thr1881Ala)	rs376084993	0.00001
NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu)	rs1743394245
NM_133433.4(NIPBL):c.161T>A (p.Leu54Ter)	rs1740842785
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)	rs1057518944
NM_133433.4(NIPBL):c.1849G>C (p.Glu617Gln)	rs1744586399
NM_133433.4(NIPBL):c.2126_2128delinsCTCTCAA (p.Ser709fs)	rs1744639200
NM_133433.4(NIPBL):c.3534_3535del (p.Lys1179fs)	rs1746711848
NM_133433.4(NIPBL):c.3548C>T (p.Ala1183Val)	rs892589257
NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala)	rs587784000
NM_133433.4(NIPBL):c.7459del (p.Glu2487fs)	rs1554034812

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