ClinVar Miner

List of variants reported as pathogenic for Coffin-Siris syndrome 1 by Genetic Services Laboratory, University of Chicago

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.1732C>T (p.Gln578Ter) rs1554248236
NM_001374828.1(ARID1B):c.2109dup (p.Ser704fs) rs1554265319
NM_001374828.1(ARID1B):c.2359C>T (p.Gln787Ter) rs753933273
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter) rs797045272
NM_001374828.1(ARID1B):c.2675dup (p.Gln893fs) rs1554301230
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter) rs1554231836
NM_001374828.1(ARID1B):c.3819del (p.Phe1273fs) rs1554231845
NM_001374828.1(ARID1B):c.4267C>T (p.Gln1423Ter) rs1554234341
NM_001374828.1(ARID1B):c.5425dup (p.Tyr1809fs) rs797045279
NM_001374828.1(ARID1B):c.5520del (p.Lys1841fs) rs797045280
NM_001374828.1(ARID1B):c.5522del (p.Lys1841fs) rs797045281
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283

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