ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome 3 by 3billion

Included ClinVar conditions (2):

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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_005445.4(SMC3):c.1417T>G (p.Trp473Gly)	rs1861180567
NM_005445.4(SMC3):c.1450GCT[1] (p.Ala485del)	rs1564792181
NM_005445.4(SMC3):c.2513A>C (p.Lys838Thr)	rs2134750930

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