ClinVar Miner

List of variants in gene combination ARID1B, LOC115308161 reported by Ambry Genetics

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=) rs78253128 0.00509
NM_001374828.1(ARID1B):c.501C>G (p.His167Gln) rs372726215 0.00028
NM_001374828.1(ARID1B):c.381A>G (p.Ala127=) rs1157661615 0.00007
NM_001374828.1(ARID1B):c.588_614del (p.Phe196_Gln205delinsLeu) rs1321302086 0.00001
NM_001374828.1(ARID1B):c.666C>T (p.Ser222=) rs1229372337 0.00001
NM_001374828.1(ARID1B):c.352TCC[6] (p.Ser124del) rs770512547
NM_001374828.1(ARID1B):c.352TCC[8] (p.Ser124dup) rs770512547
NM_001374828.1(ARID1B):c.373GCGGCGGCA[1] (p.Ala128_Ala130del) rs769480864
NM_001374828.1(ARID1B):c.395C>T (p.Ser132Phe)
NM_001374828.1(ARID1B):c.493C>A (p.Gln165Lys)
NM_001374828.1(ARID1B):c.494A>C (p.Gln165Pro)
NM_001374828.1(ARID1B):c.500A>G (p.His167Arg)
NM_001374828.1(ARID1B):c.501CCA[4] (p.His172del) rs752012879
NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1]) rs767952510
NM_001374828.1(ARID1B):c.513C>T (p.His171=)
NM_001374828.1(ARID1B):c.519CCA[5] (p.His179del) rs754114025
NM_001374828.1(ARID1B):c.550CAC[3] (p.His187del)
NM_001374828.1(ARID1B):c.552C>T (p.His184=) rs1562375469
NM_001374828.1(ARID1B):c.591GCA[1] (p.Gln209_Gln214del)
NM_001374828.1(ARID1B):c.591GCA[2] (p.Gln210_Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[4] (p.Gln212_Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[5] (p.Gln213_Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[6] (p.Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[8] (p.Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[1] (p.Gln207_Gln214del) rs770869529
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln207_Gln214dup) rs770869529
NM_001374828.1(ARID1B):c.609_635del (p.Gln206_Gln214del) rs910569810
NM_001374828.1(ARID1B):c.612_614del (p.Gln214del)
NM_001374828.1(ARID1B):c.612_617dup (p.Gln214_His215insGlnGln)
NM_001374828.1(ARID1B):c.612_620del (p.Gln212_Gln214del) rs797045274
NM_001374828.1(ARID1B):c.612_623dup (p.Gln214_His215insGlnGlnGlnGln)
NM_001374828.1(ARID1B):c.612_629del (p.Gln209_Gln214del) rs768349133
NM_001374828.1(ARID1B):c.612_632del (p.Gln208_Gln214del) rs762617219
NM_001374828.1(ARID1B):c.615GCA[10] (p.Gln212_Gln214dup) rs587779744
NM_001374828.1(ARID1B):c.615GCA[11] (p.Gln211_Gln214dup) rs587779744
NM_001374828.1(ARID1B):c.615GCA[12] (p.Gln214_His215insGlnGlnGlnGlnGln)
NM_001374828.1(ARID1B):c.615GCA[5] (p.Gln213_Gln214del) rs587779744
NM_001374828.1(ARID1B):c.615GCA[6] (p.Gln214del) rs587779744
NM_001374828.1(ARID1B):c.615GCA[8] (p.Gln214dup) rs587779744
NM_001374828.1(ARID1B):c.615GCA[9] (p.Gln213_Gln214dup) rs587779744
NM_001374828.1(ARID1B):c.618G>A (p.Gln206=)
NM_001374828.1(ARID1B):c.636A>G (p.Gln212=)
NM_001374828.1(ARID1B):c.639G>A (p.Gln213=)
NM_001374828.1(ARID1B):c.641_642insGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAACAGCA (p.Gln214_His215insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_001374828.1(ARID1B):c.656ACA[2] (p.Asn221del)
NM_001374828.1(ARID1B):c.665G>T (p.Ser222Ile)
NM_001374828.1(ARID1B):c.693T>G (p.Pro231=)
NM_001374828.1(ARID1B):c.710T>G (p.Met237Arg)

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