ClinVar Miner

List of variants in gene CASQ2 reported as pathogenic

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 0.00002
NM_001232.4(CASQ2):c.234+2T>C rs757789935 0.00002
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) rs758748280 0.00001
NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter) rs754834466 0.00001
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) rs776874142 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln) rs749547712 0.00001
NC_000001.10:g.(?_116269603)_(116269753_?)del
NM_001232.4(CASQ2):c.1014+1G>A rs1654250819
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter) rs1553191909
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter) rs756636650
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
NM_001232.4(CASQ2):c.204del (p.Lys68fs) rs786205795
NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter)
NM_001232.4(CASQ2):c.213del (p.Gln71fs) rs786205799
NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter)
NM_001232.4(CASQ2):c.261dup (p.Ala88fs)
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr) rs1553197939
NM_001232.4(CASQ2):c.31del (p.Ile11fs)
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs) rs786205106
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001232.4(CASQ2):c.3G>A (p.Met1Ile)
NM_001232.4(CASQ2):c.414_415del (p.Leu139fs)
NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter) rs1648034747
NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter) rs375598471
NM_001232.4(CASQ2):c.500T>A (p.Leu167His) rs121434550
NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter)
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.606+1G>C rs786205791
NM_001232.4(CASQ2):c.62del (p.Glu21fs) rs397507555
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) rs1647617368
NM_001232.4(CASQ2):c.737+1G>A
NM_001232.4(CASQ2):c.737+2T>A rs1366771173
NM_001232.4(CASQ2):c.754del (p.Leu252fs)
NM_001232.4(CASQ2):c.781del (p.Trp261fs)
NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter)
NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter) rs1471576368
NM_001232.4(CASQ2):c.919G>C (p.Asp307His) rs121434549
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
NM_001232.4(CASQ2):c.939+5G>C rs746128346
NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter) rs767023791

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