ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.3277A>T (p.Lys1093Ter) rs902091666
NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=) rs1583451360
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter) rs387907141
NM_001374828.1(ARID1B):c.3692_3693del (p.Lys1231fs) rs876657380
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) rs387906846

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