ClinVar Miner

List of variants in gene SETD1A reported as likely benign by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014712.3(SETD1A):c.754A>G (p.Ser252Gly)	rs550183612	0.00001
NM_014712.3(SETD1A):c.706A>C (p.Thr236Pro)	rs2143483723

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