ClinVar Miner

List of variants in gene ARID1B studied for Coffin-Siris syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 6q25.3(chr6:157133792-157495187)
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
NC_000006.12:g.157207614delA
NM_001346813.1(ARID1B):c.1802dup (p.Tyr601Terfs) rs1554265275
NM_001346813.1(ARID1B):c.2219dup (p.Ile741Asnfs) rs1554294698
NM_001346813.1(ARID1B):c.3406_3407dup (p.Pro1137Serfs) rs1057519009
NM_001346813.1(ARID1B):c.3752dup (p.Pro1252Alafs) rs1554232959
NM_001346813.1(ARID1B):c.5602G>T (p.Glu1868Ter)
NM_001346813.1(ARID1B):c.6372_6373insACCCTCTGTAAACTCAGTATCCAGGACA (p.Asn2135Profs) rs1554237992
NM_017519.2(ARID1B):c.17G>A (p.Gly6Asp) rs1057518648
NM_020732.3(ARID1B):c.1308C>G (p.Ser436Arg)
NM_020732.3(ARID1B):c.1349_1350insAAC (p.Pro450_Ser451insThr)
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)
NM_020732.3(ARID1B):c.1899dup (p.Ser634Valfs) 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)
NM_020732.3(ARID1B):c.2149C>T (p.Gln717Ter) rs753933273
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.2465dup (p.Gln823Profs) rs1554301230
NM_020732.3(ARID1B):c.3096_3100delCAAAG (p.Lys1033Argfs) rs1131692263
NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter) rs387907144
NM_020732.3(ARID1B):c.3228C>G (p.Tyr1076Ter)
NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter) rs387907141
NM_020732.3(ARID1B):c.3323_3324del (p.Lys1108Argfs) rs876657380
NM_020732.3(ARID1B):c.3345+2T>G rs1404726383
NM_020732.3(ARID1B):c.3401C>G (p.Ser1134Ter)
NM_020732.3(ARID1B):c.3430C>T (p.Gln1144Ter) rs1554231836
NM_020732.3(ARID1B):c.3450del (p.Phe1150Leufs) rs1554231845
NM_020732.3(ARID1B):c.3547delC (p.Pro1183Leufs)
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.4336C>T (p.Gln1446Ter) rs797045278
NM_020732.3(ARID1B):c.4536G>A (p.Trp1512Ter)
NM_020732.3(ARID1B):c.4619_4628del (p.Gln1541Argfs) rs876657382
NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter) rs1554236040
NM_020732.3(ARID1B):c.4889delA (p.Asp1630Valfs)
NM_020732.3(ARID1B):c.5025+1G>A rs1057518984
NM_020732.3(ARID1B):c.5026-2A>C
NM_020732.3(ARID1B):c.5056dup (p.Tyr1686Leufs) rs797045279
NM_020732.3(ARID1B):c.5151del (p.Lys1718Argfs) rs797045280
NM_020732.3(ARID1B):c.5153del (p.Lys1718Argfs) rs797045281
NM_020732.3(ARID1B):c.5329A>T (p.Lys1777Ter) rs387907143
NM_020732.3(ARID1B):c.5394_5397del (p.Phe1798Leufs) rs1554237269
NM_020732.3(ARID1B):c.5404C>T (p.Arg1802Ter) rs797045282
NM_020732.3(ARID1B):c.5482G>A (p.Glu1828Lys)
NM_020732.3(ARID1B):c.5570_5573delAAGA (p.Lys1857Serfs) rs886041706
NM_020732.3(ARID1B):c.5632del (p.Asp1878Metfs) rs876657381
NM_020732.3(ARID1B):c.5680C>T (p.Pro1894Ser) rs774509236
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.6255_6256delCC (p.Cys2087Terfs) rs886040958
NM_020732.3(ARID1B):c.6463_6473del (p.Ser2155Leufs) rs876657379
NM_020732.3(ARID1B):c.6526C>T (p.Gln2176Ter) rs758120346
NM_020732.3(ARID1B):c.6700delC (p.Leu2234Trpfs)
NM_020732.3(ARID1B):c.850C>T (p.Gln284Ter)
NM_020732.3(ARID1B):c.980G>C (p.Gly327Ala) rs1455234951
NM_020732.3:c.1259delA

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.