ClinVar Miner

List of variants studied for Coffin-Siris syndrome 1 by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=)
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
NM_001374828.1(ARID1B):c.6106C>T (p.His2036Tyr)
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) rs387906846
NM_017519.2(ARID1B):c.3284_3285del (p.Lys1095fs) rs876657380
NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter) rs387907141

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