ClinVar Miner

List of variants studied for Coffin-Siris syndrome by Autoinflammatory diseases unit, CHU de Montpellier

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.4663_4670dup (p.Pro1558fs) rs1794053879
NM_001374828.1(ARID1B):c.5394+3A>C rs1794283740

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