ClinVar Miner

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

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP
GRCh37/hg19 6q25.3(chr6:157133792-157495187)
NM_001363725.2(ARID1B):c.-32dup rs1554294698
NM_001363725.2(ARID1B):c.-48C>T rs869312712
NM_001374820.1(ARID1B):c.1451dup (p.Phe485fs)
NM_001374820.1(ARID1B):c.1508del (p.Asn503fs)
NM_001374820.1(ARID1B):c.4143del (p.Gly1382fs)
NM_001374820.1(ARID1B):c.4179C>A (p.Tyr1393Ter)
NM_001374820.1(ARID1B):c.6776del (p.Gln2259fs)
NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter)
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)
NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs)
NM_017519.2(ARID1B):c.1802dup (p.Tyr601Ter) rs1554265275
NM_017519.2(ARID1B):c.1864C>T (p.Gln622Ter) rs387907142
NM_017519.2(ARID1B):c.2981_2986+7del
NM_017519.2(ARID1B):c.3284_3285del (p.Lys1095fs) rs876657380
NM_017519.2(ARID1B):c.3509del (p.Pro1170fs) rs1562331655
NM_017519.2(ARID1B):c.3529C>T (p.Gln1177Ter)
NM_017519.2(ARID1B):c.3593dup (p.Pro1199fs) rs1554232959
NM_017519.2(ARID1B):c.3650+1G>C rs1057518691
NM_017519.2(ARID1B):c.3880C>T (p.Gln1294Ter) rs387907140
NM_017519.2(ARID1B):c.3999T>A (p.Tyr1333Ter) rs748363079
NM_017519.2(ARID1B):c.4583_4592del (p.Gln1528fs) rs876657382
NM_017519.2(ARID1B):c.4850del (p.Asp1617fs) rs1562347066
NM_017519.2(ARID1B):c.5290A>T (p.Lys1764Ter) rs387907143
NM_017519.2(ARID1B):c.5351_5354TGTT[1] (p.Phe1785fs) rs1554237269
NM_017519.2(ARID1B):c.5527_5530AAGA[1] (p.Lys1844fs) rs886041706
NM_017519.2(ARID1B):c.5593del (p.Asp1865fs) rs876657381
NM_017519.2(ARID1B):c.6061C>T (p.Gln2021Ter) rs869312697
NM_017519.2(ARID1B):c.6215_6242dup (p.Asn2082_Val2083insProLeuTer) rs1554237992
NM_017519.2(ARID1B):c.6216_6217del (p.Leu2073_Cys2074insTer) rs886040958
NM_017519.2(ARID1B):c.6424_6434del (p.Ser2142fs) rs876657379
NM_017519.2(ARID1B):c.6661del (p.Leu2221fs) rs1562355401
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.1899dup (p.Ser634fs) rs1554265319
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.2248C>T (p.Arg750Ter) rs797045272
NM_020732.3(ARID1B):c.2465dup (p.Gln823fs) rs1554301230
NM_020732.3(ARID1B):c.3135G>A (p.Lys1045=)
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.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.3586dup (p.Gln1196fs)
NM_020732.3(ARID1B):c.3737C>A (p.Ser1246Ter) rs772973856
NM_020732.3(ARID1B):c.3898C>T (p.Gln1300Ter) rs1554234341
NM_020732.3(ARID1B):c.4009C>T (p.Arg1337Ter) rs773740590
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020732.3(ARID1B):c.4140C>G (p.Tyr1380Ter) rs377021700
NM_020732.3(ARID1B):c.4536G>A (p.Trp1512Ter) rs1554235834
NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter) rs1554236040
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.5404C>T (p.Arg1802Ter) rs797045282
NM_020732.3(ARID1B):c.5737C>T (p.His1913Tyr)
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.6382C>T (p.Arg2128Ter) rs1554238072
NM_020732.3(ARID1B):c.850C>T (p.Gln284Ter)
NM_175863.2:c.4699dup

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