ClinVar Miner

List of variants studied for Coffin-Siris syndrome 1 by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001346813.1(ARID1B):c.5602G>T (p.Glu1868Ter) rs1451259945
NM_001374820.1(ARID1B):c.3326del (p.Leu1109fs)
NM_001374820.1(ARID1B):c.5104del (p.Val1702fs)
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)
NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) rs797045283

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