ClinVar Miner

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

Included ClinVar conditions (3):
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Total variants: 17
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HGVS dbSNP
NM_020732.3(ARID1B):c.1483C>T (p.Gln495Ter) rs1554248236
NM_020732.3(ARID1B):c.1899dup (p.Ser634fs) rs1554265319
NM_020732.3(ARID1B):c.2149C>T (p.Gln717Ter) rs753933273
NM_020732.3(ARID1B):c.2248C>T (p.Arg750Ter) rs797045272
NM_020732.3(ARID1B):c.2465dup (p.Gln823fs) rs1554301230
NM_020732.3(ARID1B):c.3430C>T (p.Gln1144Ter) rs1554231836
NM_020732.3(ARID1B):c.3450del (p.Phe1150fs) rs1554231845
NM_020732.3(ARID1B):c.3898C>T (p.Gln1300Ter) rs1554234341
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020732.3(ARID1B):c.4336C>T (p.Gln1446Ter) rs797045278
NM_020732.3(ARID1B):c.5056dup (p.Tyr1686fs) rs797045279
NM_020732.3(ARID1B):c.5151del (p.Lys1718fs) rs797045280
NM_020732.3(ARID1B):c.5153del (p.Lys1718fs) rs797045281
NM_020732.3(ARID1B):c.5390_5393TGTT[1] (p.Phe1798fs) rs1554237269
NM_020732.3(ARID1B):c.5404C>T (p.Arg1802Ter) rs797045282
NM_020732.3(ARID1B):c.5566_5569AAGA[1] (p.Lys1857fs) rs886041706
NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) rs797045283

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