ClinVar Miner

List of variants studied for Coffin-Siris syndrome 1 by Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_001363725.2(ARID1B):c.-32dup rs1554294698
NM_017519.2(ARID1B):c.1802dup (p.Tyr601Ter) rs1554265275
NM_017519.2(ARID1B):c.5527_5530AAGA[1] (p.Lys1844fs) rs886041706
NM_020732.3(ARID1B):c.1960C>T (p.Gln654Ter) rs1554270809
NM_020732.3(ARID1B):c.3345+2T>G rs1404726383
NM_020732.3(ARID1B):c.6526C>T (p.Gln2176Ter) rs758120346

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