ClinVar Miner

List of variants in gene NIPBL reported by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_133433.3(NIPBL):c.3856-?_4239+?del
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)	rs398124465
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)	rs587784036

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