ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 3 by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.130+11C>G rs1860907572
NM_005445.4(SMC3):c.1450GCT[1] (p.Ala485del) rs1564792181
NM_005445.4(SMC3):c.2111T>C (p.Ile704Thr) rs1564794233
NM_005445.4(SMC3):c.3362C>T (p.Ser1121Phe) rs1564796294
NM_005445.4(SMC3):c.587T>C (p.Ile196Thr) rs797045070

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