ClinVar Miner

List of variants in gene SMARCE1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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_003079.5(SMARCE1):c.274A>C (p.Lys92Gln)	rs2143997424
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln)	rs2037146907

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