ClinVar Miner

List of variants reported for Coffin-Siris syndrome 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.3061C>T (p.Gln1021Ter) rs1554226145
NM_001374828.1(ARID1B):c.3906G>C (p.Gln1302His)
NM_001374828.1(ARID1B):c.4205dup (p.Asp1403fs)
NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs) rs1554247377
NM_001394372.1(BICRA):c.3313C>T (p.Pro1105Ser)
NM_006015.6(ARID1A):c.2630C>T (p.Pro877Leu) rs2081008426
NM_006015.6(ARID1A):c.3487C>T (p.Pro1163Ser) rs2124104504
NM_152641.4(ARID2):c.1822A>G (p.Ile608Val)

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