ClinVar Miner

List of variants in gene ARID1B reported as pathogenic by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.1987-29738G>T rs201653711 0.00003
NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs) rs943407609
NM_001374828.1(ARID1B):c.1293_1314del (p.Gly434fs) rs1778945620
NM_001374828.1(ARID1B):c.1625_1632dup (p.Ala545fs)
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs) rs1131691339
NM_001374828.1(ARID1B):c.1641_1651del (p.Gln550fs) rs1131691706
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter) rs1779032666
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter) rs1057518951
NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter) rs1554256703
NM_001374828.1(ARID1B):c.1923T>G (p.Tyr641Ter) rs1782980450
NM_001374828.1(ARID1B):c.2581+2T>C rs1786833331
NM_001374828.1(ARID1B):c.2886del (p.Ala963fs) rs1789979659
NM_001374828.1(ARID1B):c.3038dup (p.Glu1014fs) rs1554226131
NM_001374828.1(ARID1B):c.3345+1G>A rs1791922830
NM_001374828.1(ARID1B):c.3552C>G (p.Tyr1184Ter) rs758570139
NM_001374828.1(ARID1B):c.3581_3585delinsCAGA (p.Leu1194fs) rs1562328476
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001374828.1(ARID1B):c.3746del (p.Ala1249fs) rs1554231814
NM_001374828.1(ARID1B):c.3926C>A (p.Ser1309Ter) rs1321954955
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.4050del (p.Gly1351fs) rs1793228690
NM_001374828.1(ARID1B):c.4058+1G>A
NM_001374828.1(ARID1B):c.4146dup (p.Tyr1383fs) rs1793251352
NM_001374828.1(ARID1B):c.4362T>A (p.Tyr1454Ter) rs1554234424
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter) rs773740590
NM_001374828.1(ARID1B):c.4441dup (p.Tyr1481fs)
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4540_4541del (p.Met1514fs) rs797044859
NM_001374828.1(ARID1B):c.4550del (p.Met1517fs)
NM_001374828.1(ARID1B):c.4689del (p.His1564fs)
NM_001374828.1(ARID1B):c.4839C>G (p.Tyr1613Ter) rs1554235792
NM_001374828.1(ARID1B):c.4940C>A (p.Ser1647Ter) rs867707366
NM_001374828.1(ARID1B):c.5028del (p.Ser1678fs)
NM_001374828.1(ARID1B):c.5257dup (p.Asp1753fs) rs1554236054
NM_001374828.1(ARID1B):c.5315del (p.Ala1772fs) rs1794278792
NM_001374828.1(ARID1B):c.5469del (p.Glu1823fs) rs1554237050
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.5955dup (p.Gly1986fs) rs1562352435
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001374828.1(ARID1B):c.6181C>T (p.Gln2061Ter) rs1554237689
NM_001374828.1(ARID1B):c.6193del (p.Ala2065fs) rs1794509686
NM_001374828.1(ARID1B):c.6408G>A (p.Trp2136Ter) rs1554237848
NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter) rs1554238035
NM_001374828.1(ARID1B):c.6713T>G (p.Leu2238Ter)
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001374828.1(ARID1B):c.6823C>T (p.Gln2275Ter) rs1554238093
NM_001374828.1(ARID1B):c.6916C>T (p.Gln2306Ter) rs1308155037
NM_001374828.1(ARID1B):c.966_979delinsG (p.Ala323fs) rs1554247637

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