List of variants in gene SMARCC2 reported as pathogenic for Coffin-Siris syndrome 8

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001330288.2(SMARCC2):c.1091del (p.Lys364fs)
NM_001330288.2(SMARCC2):c.1094_1097del (p.Lys365fs)
NM_001330288.2(SMARCC2):c.1311-3C>G	rs1206884190
NM_001330288.2(SMARCC2):c.1496+1G>T
NM_001330288.2(SMARCC2):c.1919T>C (p.Leu640Pro)	rs2135687866
NM_001330288.2(SMARCC2):c.1922T>C (p.Leu641Pro)	rs1565903367
NM_001330288.2(SMARCC2):c.1926+1G>A	rs1555221275
NM_001330288.2(SMARCC2):c.1926+2T>C	rs1565903353
NM_001330288.2(SMARCC2):c.2779A>G (p.Met927Val)	rs1565896447
NM_001330288.2(SMARCC2):c.3381_3388del (p.Ile1128fs)
NM_001330288.2(SMARCC2):c.723G>A (p.Trp241Ter)	rs1565917836

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