ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 3 by 3billion

Included ClinVar conditions (2):
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Total variants: 7
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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.1942A>G (p.Met648Val) rs886041239
NM_005445.4(SMC3):c.2018A>G (p.Lys673Arg) rs2493138211
NM_005445.4(SMC3):c.2513A>C (p.Lys838Thr) rs2134750930
NM_005445.4(SMC3):c.2535+4T>G
NM_005445.4(SMC3):c.3535C>G (p.Leu1179Val)

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