List of variants in gene SMARCE1 reported as likely pathogenic by Invitae

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_003079.5(SMARCE1):c.301G>A (p.Gly101Ser)
NM_003079.5(SMARCE1):c.369+1G>A	rs2037146593
NM_003079.5(SMARCE1):c.369+1G>T	rs2037146593
NM_003079.5(SMARCE1):c.369+2_369+5del	rs2143997220
NM_003079.5(SMARCE1):c.541+1G>A	rs1597746020
NM_003079.5(SMARCE1):c.542-2A>G	rs2143988635
NM_003079.5(SMARCE1):c.714+1G>A	rs2143988221
NM_003079.5(SMARCE1):c.817-2A>G	rs2143985266

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