ClinVar Miner

List of variants in gene ARID1B reported as pathogenic for Coffin-Siris syndrome 1

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Total variants: 58
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HGVS dbSNP
GRCh37/hg19 6q25.3(chr6:157133792-157495187)
NM_017519.2(ARID1B):c.2426_2427insC
NM_020732.3(ARID1B):c.1259del (p.Asn420fs)
NM_020732.3(ARID1B):c.1483C>T (p.Gln495Ter) rs1554248236
NM_020732.3(ARID1B):c.1618C>T (p.Gln540Ter) rs1554256703
NM_020732.3(ARID1B):c.1762G>T (p.Glu588Ter) rs201653711
NM_020732.3(ARID1B):c.1828C>T (p.Gln610Ter) rs1554265271
NM_020732.3(ARID1B):c.1841dup (p.Tyr614Ter) rs1554265275
NM_020732.3(ARID1B):c.1899dup (p.Ser634fs) rs1554265319
NM_020732.3(ARID1B):c.1903C>T (p.Gln635Ter) rs387907142
NM_020732.3(ARID1B):c.1960C>T (p.Gln654Ter) rs1554270809
NM_020732.3(ARID1B):c.2077G>T (p.Glu693Ter) rs1554294593
NM_020732.3(ARID1B):c.2149C>T (p.Gln717Ter) rs753933273
NM_020732.3(ARID1B):c.2190del (p.Ser730fs)
NM_020732.3(ARID1B):c.2242C>T (p.Gln748Ter) rs869312712
NM_020732.3(ARID1B):c.2248C>T (p.Arg750Ter) rs797045272
NM_020732.3(ARID1B):c.2258dup (p.Ile754fs) rs1554294698
NM_020732.3(ARID1B):c.2465dup (p.Gln823fs) rs1554301230
NM_020732.3(ARID1B):c.3020_3025+7del
NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter) rs387907144
NM_020732.3(ARID1B):c.3228C>G (p.Tyr1076Ter) rs1562328526
NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter) rs387907141
NM_020732.3(ARID1B):c.3323_3324del (p.Lys1108fs) rs876657380
NM_020732.3(ARID1B):c.3345+2T>G rs1404726383
NM_020732.3(ARID1B):c.3430C>T (p.Gln1144Ter) rs1554231836
NM_020732.3(ARID1B):c.3450del (p.Phe1150fs) rs1554231845
NM_020732.3(ARID1B):c.3548del (p.Pro1183fs) rs1562331655
NM_020732.3(ARID1B):c.3568C>T (p.Gln1190Ter)
NM_020732.3(ARID1B):c.3632dup (p.Pro1212fs) rs1554232959
NM_020732.3(ARID1B):c.3689+1G>C rs1057518691
NM_020732.3(ARID1B):c.3737C>A (p.Ser1246Ter)
NM_020732.3(ARID1B):c.3898C>T (p.Gln1300Ter) rs1554234341
NM_020732.3(ARID1B):c.3919C>T (p.Gln1307Ter) rs387907140
NM_020732.3(ARID1B):c.4009C>T (p.Arg1337Ter) rs773740590
NM_020732.3(ARID1B):c.4038T>A (p.Tyr1346Ter) rs748363079
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020732.3(ARID1B):c.4140C>G (p.Tyr1380Ter)
NM_020732.3(ARID1B):c.4536G>A (p.Trp1512Ter) rs1554235834
NM_020732.3(ARID1B):c.4622_4631del (p.Gln1541fs) rs876657382
NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter) rs1554236040
NM_020732.3(ARID1B):c.4889del (p.Asp1630fs) rs1562347066
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.5329A>T (p.Lys1777Ter) rs387907143
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.5632del (p.Asp1878fs) rs876657381
NM_020732.3(ARID1B):c.5776C>T (p.Arg1926Ter) rs1554237658
NM_020732.3(ARID1B):c.5830C>T (p.Arg1944Ter) rs1028186690
NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) rs797045283
NM_020732.3(ARID1B):c.6100C>T (p.Gln2034Ter) rs869312697
NM_020732.3(ARID1B):c.6254_6281dup (p.Asn2095_Val2096insProLeuTer) rs1554237992
NM_020732.3(ARID1B):c.6255_6256del (p.Leu2086_Cys2087insTer) rs886040958
NM_020732.3(ARID1B):c.6463_6473del (p.Ser2155fs) rs876657379
NM_020732.3(ARID1B):c.6700del (p.Leu2234fs) rs1562355401
NM_020732.3(ARID1B):c.850C>T (p.Gln284Ter)

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