ClinVar Miner

List of variants in gene SMC1A reported as uncertain significance for Cornelia de Lange syndrome 1

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.*348C>T	rs782700234	0.00010
NM_006306.4(SMC1A):c.*817ACAG[1]	rs1057515968

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