ClinVar Miner

List of variants in gene SMC3 reported as uncertain significance for Cornelia de Lange syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.1670+6_1670+7insAAC rs766155607 0.00006
NM_005445.4(SMC3):c.*298del rs886046697
NM_005445.4(SMC3):c.2535+28dup rs397847637

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