ClinVar Miner

List of variants in gene BCORL1 reported as likely benign for Shukla-Vernon syndrome

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_001379451.1(BCORL1):c.4851G>A (p.Ser1617=)	rs35736519	0.01042
NM_001379451.1(BCORL1):c.516T>C (p.Asn172=)	rs36043572	0.00612

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