ClinVar Miner

List of variants reported as benign for Cornelia de Lange syndrome 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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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.3015A>G (p.Leu1005=)	rs1669445	0.03530
NM_133433.4(NIPBL):c.4421+7A>G	rs76297333	0.02109

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