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 (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.2051dup (p.Tyr684Ter) rs1554265275
NM_001374828.1(ARID1B):c.2170C>T (p.Gln724Ter) rs1554270809
NM_001374828.1(ARID1B):c.2468dup (p.Ile824fs) rs1554294698
NM_001374828.1(ARID1B):c.3714+2T>G rs1404726383
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter) rs758120346

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