ClinVar Miner

List of variants in gene ARID1B reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys) rs1451259945 0.00004
NM_001374828.1(ARID1B):c.3236-1G>A rs752642190 0.00001
GRCh37/hg19 6q25.3(chr6:156234522-157126587)x1
GRCh37/hg19 6q25.3(chr6:157119943-157519050)x3
GRCh37/hg19 6q25.3(chr6:157201571-157340945)x1
GRCh37/hg19 6q25.3(chr6:157402040-157432660)x1
GRCh37/hg19 6q25.3(chr6:157431664-157482864)x1
NC_000006.11:g.(?_157488154)_(157505589_?)dup
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs) rs1778944605
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)
NM_001374828.1(ARID1B):c.1462_1466del (p.Phe488fs)
NM_001374828.1(ARID1B):c.1548del (p.Ser515_Tyr516insTer) rs2114999450
NM_001374828.1(ARID1B):c.1567_1568dup (p.Ser524fs) rs1778991763
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs) rs1779004027
NM_001374828.1(ARID1B):c.1637_1638del (p.Ala546fs) rs2115002258
NM_001374828.1(ARID1B):c.1651C>A (p.Gln551Lys) rs1583027141
NM_001374828.1(ARID1B):c.1719G>A (p.Trp573Ter) rs1779020146
NM_001374828.1(ARID1B):c.1781del (p.Gly594fs) rs1779031164
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter) rs1779032666
NM_001374828.1(ARID1B):c.1811del (p.Met604fs)
NM_001374828.1(ARID1B):c.1853dup (p.His619fs)
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter) rs773640553
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs) rs1582908829
NM_001374828.1(ARID1B):c.2073dup (p.His692fs) rs2128210922
NM_001374828.1(ARID1B):c.2078del (p.Leu693fs) rs2128210949
NM_001374828.1(ARID1B):c.2170C>T (p.Gln724Ter) rs1554270809
NM_001374828.1(ARID1B):c.2248-2A>G rs2128462015
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs) rs1583280025
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)
NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg)
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser) rs1057518045
NM_001374828.1(ARID1B):c.2582-2A>C rs1057524160
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs) rs1085307695
NM_001374828.1(ARID1B):c.2714del (p.Asn905fs)
NM_001374828.1(ARID1B):c.2728del (p.Tyr910fs)
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter) rs1554301257
NM_001374828.1(ARID1B):c.2762-1G>C
NM_001374828.1(ARID1B):c.2762-2A>C rs770350755
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer) rs2128634579
NM_001374828.1(ARID1B):c.3089+2T>C rs1057518318
NM_001374828.1(ARID1B):c.3220del (p.Met1073_Val1074insTer)
NM_001374828.1(ARID1B):c.3258G>T (p.Met1086Ile) rs1057518059
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs) rs1583451146
NM_001374828.1(ARID1B):c.3306_3310del (p.Lys1103fs) rs1131692263
NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=) rs1583451360
NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs) rs1792478147
NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn)
NM_001374828.1(ARID1B):c.3655_3656dup (p.Pro1220fs) rs1057519009
NM_001374828.1(ARID1B):c.3664dup (p.Asp1222fs) rs2128317569
NM_001374828.1(ARID1B):c.3665A>T (p.Asp1222Val) rs1554231259
NM_001374828.1(ARID1B):c.3704G>A (p.Gly1235Asp) rs864309615
NM_001374828.1(ARID1B):c.3715-2A>G
NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)
NM_001374828.1(ARID1B):c.3770C>G (p.Ser1257Ter) rs1583469292
NM_001374828.1(ARID1B):c.3814del (p.Leu1272fs) rs1057518918
NM_001374828.1(ARID1B):c.3827_3828del (p.Glu1276fs) rs2128325428
NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs)
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.4192delinsCATGAGCCCA (p.Tyr1398delinsHisGluProAsn) rs1554233151
NM_001374828.1(ARID1B):c.4232-1G>A
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter) rs1554234402
NM_001374828.1(ARID1B):c.4479+5G>A
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter) rs1794042593
NM_001374828.1(ARID1B):c.4620del (p.Arg1540fs) rs2128372930
NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)
NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs)
NM_001374828.1(ARID1B):c.4656G>A (p.Arg1552=)
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter) rs797045278
NM_001374828.1(ARID1B):c.4712del (p.Met1571fs) rs1794059063
NM_001374828.1(ARID1B):c.4770_4771dup (p.Arg1591fs)
NM_001374828.1(ARID1B):c.4808del (p.Gly1603fs) rs2128374043
NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter) rs1064793482
NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter)
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs) rs1583502875
NM_001374828.1(ARID1B):c.5264-2A>C rs1794274425
NM_001374828.1(ARID1B):c.5264-2A>G rs1794274425
NM_001374828.1(ARID1B):c.5394+1G>A rs1057518984
NM_001374828.1(ARID1B):c.5394+3A>C rs1794283740
NM_001374828.1(ARID1B):c.5395-1G>A
NM_001374828.1(ARID1B):c.5395-2A>C rs1562350940
NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs)
NM_001374828.1(ARID1B):c.5402del (p.Gly1801fs) rs2128391037
NM_001374828.1(ARID1B):c.5417del (p.Leu1805_Leu1806insTer)
NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs)
NM_001374828.1(ARID1B):c.5615_5616dup (p.Glu1873fs) rs2128392250
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter) rs1794456297
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs)
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.5825G>A (p.Trp1942Ter)
NM_001374828.1(ARID1B):c.5831_5835del (p.Leu1944fs) rs1131691508
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter) rs1451259945
NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys) rs1369594791
NM_001374828.1(ARID1B):c.5903del (p.Arg1968fs) rs2128393700
NM_001374828.1(ARID1B):c.5968dup (p.Glu1990fs) rs1554237473
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs) rs1794490994
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter) rs886041878
NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs)
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs)
NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly)
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr) rs1583516082
NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer)
NM_001374828.1(ARID1B):c.6319G>T (p.Glu2107Ter) rs786205584
NM_001374828.1(ARID1B):c.6328G>T (p.Glu2110Ter) rs1554237778
NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs)
NM_001374828.1(ARID1B):c.6377del (p.Lys2126fs)
NM_001374828.1(ARID1B):c.6404G>A (p.Trp2135Ter) rs1554237845
NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)
NM_001374828.1(ARID1B):c.6461T>C (p.Ile2154Thr) rs2128397101
NM_001374828.1(ARID1B):c.6464C>T (p.Ser2155Phe) rs886039594
NM_001374828.1(ARID1B):c.6493G>A (p.Glu2165Lys) rs1064794799
NM_001374828.1(ARID1B):c.6599C>A (p.Ser2200Ter) rs1554237979
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro) rs1794550318
NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)
NM_001374828.1(ARID1B):c.6716_6719del (p.Val2239fs) rs1794555916
NM_001374828.1(ARID1B):c.6726_6730dup (p.Asp2244fs) rs2128398237
NM_001374828.1(ARID1B):c.6726del (p.Asp2244fs) rs1057519002
NM_001374828.1(ARID1B):c.6775T>C (p.Ser2259Pro) rs1057521854
NM_001374828.1(ARID1B):c.6842del (p.Asn2281fs) rs1562354784
NM_001374828.1(ARID1B):c.6873dup (p.Met2292fs) rs2128398868
NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter) rs758120346
NM_001374828.1(ARID1B):c.6895del (p.Gln2299fs) rs1794569741
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs) rs1794584714

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