ClinVar Miner

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

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001330288.2(SMARCC2):c.1310+1G>T rs1875450525
NM_001330288.2(SMARCC2):c.1382+1G>A
NM_001330288.2(SMARCC2):c.1396C>T (p.Arg466Ter)
NM_001330288.2(SMARCC2):c.1496+2T>G
NM_001330288.2(SMARCC2):c.1497-2A>G
NM_001330288.2(SMARCC2):c.1926+1G>T rs1555221275
NM_001330288.2(SMARCC2):c.2771A>G (p.Glu924Gly) rs1873193008
NM_001330288.2(SMARCC2):c.3221del (p.Pro1074fs)
NM_001330288.2(SMARCC2):c.3221dup (p.Gly1075fs) rs752001894
NM_001330288.2(SMARCC2):c.3381_3388del (p.Ile1128fs)
NM_001330288.2(SMARCC2):c.385A>G (p.Lys129Glu) rs1592324196
NM_001330288.2(SMARCC2):c.574C>T (p.Arg192Ter) rs1876739249
NM_001330288.2(SMARCC2):c.805C>T (p.Arg269Ter) rs2135734683
NM_001330288.2(SMARCC2):c.880_881del (p.Gly294fs) rs1488489883
NM_001330288.2(SMARCC2):c.888_889del (p.Tyr296_Lys297delinsTer) rs2135733729

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