ClinVar Miner

List of variants in gene CTNNA1 reported as pathogenic

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Gene type:
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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_001903.5(CTNNA1):c.2191C>T (p.Arg731Ter) rs1401839892 0.00001
NM_001903.5(CTNNA1):c.385C>T (p.Arg129Ter) rs758599826 0.00001
NM_001903.5(CTNNA1):c.616C>T (p.Gln206Ter) rs773383379 0.00001
NM_001903.5(CTNNA1):c.1006del (p.Glu336fs)
NM_001903.5(CTNNA1):c.1007_1008del (p.Glu336fs)
NM_001903.5(CTNNA1):c.100dup (p.Thr34fs) rs1755166497
NM_001903.5(CTNNA1):c.1010_1011del (p.Glu336_Cys337insTer)
NM_001903.5(CTNNA1):c.1010del (p.Cys337fs) rs1760856538
NM_001903.5(CTNNA1):c.1045del (p.Ser349fs) rs2149786068
NM_001903.5(CTNNA1):c.1046C>A (p.Ser349Ter)
NM_001903.5(CTNNA1):c.1075G>T (p.Glu359Ter)
NM_001903.5(CTNNA1):c.1078_1081del (p.Arg360fs) rs1753991365
NM_001903.5(CTNNA1):c.1111dup (p.Met371fs)
NM_001903.5(CTNNA1):c.1116dup (p.Lys373fs)
NM_001903.5(CTNNA1):c.1117A>T (p.Lys373Ter) rs2150024332
NM_001903.5(CTNNA1):c.118_119delinsTG (p.Val40Ter)
NM_001903.5(CTNNA1):c.1205del (p.Leu402fs)
NM_001903.5(CTNNA1):c.1206_1207insCC (p.Val403fs) rs2150032416
NM_001903.5(CTNNA1):c.1246_1249del (p.Val416fs) rs1426385729
NM_001903.5(CTNNA1):c.1261C>T (p.Gln421Ter) rs1754355304
NM_001903.5(CTNNA1):c.1292_1295del (p.Ile431fs) rs1754363697
NM_001903.5(CTNNA1):c.1293T>G (p.Ile431Met) rs755215402
NM_001903.5(CTNNA1):c.1294G>T (p.Glu432Ter)
NM_001903.5(CTNNA1):c.1325_1328del (p.Asn442fs)
NM_001903.5(CTNNA1):c.1330dup (p.Glu444fs) rs1758714268
NM_001903.5(CTNNA1):c.1351C>T (p.Arg451Ter) rs201498915
NM_001903.5(CTNNA1):c.1387C>T (p.Gln463Ter) rs2150140810
NM_001903.5(CTNNA1):c.1412T>A (p.Leu471Ter)
NM_001903.5(CTNNA1):c.1426C>T (p.Gln476Ter)
NM_001903.5(CTNNA1):c.1441del (p.Gln481fs) rs2150234047
NM_001903.5(CTNNA1):c.1461dup (p.Lys488Ter) rs2150234200
NM_001903.5(CTNNA1):c.1464dup (p.Glu489fs)
NM_001903.5(CTNNA1):c.1473G>A (p.Trp491Ter)
NM_001903.5(CTNNA1):c.1474dup (p.Glu492fs)
NM_001903.5(CTNNA1):c.1479del (p.Lys493fs) rs1762114658
NM_001903.5(CTNNA1):c.1480C>T (p.Gln494Ter)
NM_001903.5(CTNNA1):c.149dup (p.Lys51fs)
NM_001903.5(CTNNA1):c.151_152del (p.Lys51fs) rs2149656252
NM_001903.5(CTNNA1):c.1526_1527insC (p.Asp509_Asp510insTer) rs1762133912
NM_001903.5(CTNNA1):c.1544C>G (p.Ser515Ter) rs1762138459
NM_001903.5(CTNNA1):c.1548del (p.Asn517fs) rs1763594477
NM_001903.5(CTNNA1):c.1571del (p.Asn524fs)
NM_001903.5(CTNNA1):c.1581dup (p.Ile528fs) rs2150288001
NM_001903.5(CTNNA1):c.1613_1617dup (p.Arg540fs) rs1580854940
NM_001903.5(CTNNA1):c.1636C>T (p.Arg546Ter) rs1763609978
NM_001903.5(CTNNA1):c.1636del (p.Arg546fs)
NM_001903.5(CTNNA1):c.1674dup (p.Glu559fs) rs2150289336
NM_001903.5(CTNNA1):c.1710_1711del (p.Lys571fs)
NM_001903.5(CTNNA1):c.1745_1746insTGGAA (p.Val583fs)
NM_001903.5(CTNNA1):c.1768C>T (p.Gln590Ter) rs926691029
NM_001903.5(CTNNA1):c.1810C>T (p.Gln604Ter)
NM_001903.5(CTNNA1):c.1815del (p.Met606fs)
NM_001903.5(CTNNA1):c.1822G>T (p.Glu608Ter)
NM_001903.5(CTNNA1):c.1833dup (p.Ile612fs)
NM_001903.5(CTNNA1):c.1846del (p.Arg616fs)
NM_001903.5(CTNNA1):c.1906del (p.Glu636fs)
NM_001903.5(CTNNA1):c.1922_1923del (p.Asp640_Ser641insTer) rs1764796614
NM_001903.5(CTNNA1):c.1924_1927dup (p.Phe643Ter)
NM_001903.5(CTNNA1):c.1928_1929del (p.Asp642_Phe643insTer)
NM_001903.5(CTNNA1):c.1969C>T (p.Gln657Ter) rs1764805365
NM_001903.5(CTNNA1):c.1991dup (p.Ala665fs) rs1764809610
NM_001903.5(CTNNA1):c.1997del (p.Gly666fs) rs1181915653
NM_001903.5(CTNNA1):c.1999C>T (p.Gln667Ter)
NM_001903.5(CTNNA1):c.199C>T (p.Gln67Ter) rs772061558
NM_001903.5(CTNNA1):c.2023C>T (p.Gln675Ter) rs1580907792
NM_001903.5(CTNNA1):c.2032C>T (p.Gln678Ter)
NM_001903.5(CTNNA1):c.2043del (p.Ala682fs) rs2150334022
NM_001903.5(CTNNA1):c.2056G>T (p.Glu686Ter) rs2150334188
NM_001903.5(CTNNA1):c.214_215del (p.Phe72fs)
NM_001903.5(CTNNA1):c.2181_2184del (p.Asp728fs) rs1765096685
NM_001903.5(CTNNA1):c.2186_2187del (p.Phe729fs) rs2150335187
NM_001903.5(CTNNA1):c.2193-3_2193dup rs1580911062
NM_001903.5(CTNNA1):c.2198_2202dup (p.Pro735fs)
NM_001903.5(CTNNA1):c.222_223del (p.Lys75fs) rs1580984414
NM_001903.5(CTNNA1):c.228_229del (p.Gly76_Asp77insTer) rs1755336735
NM_001903.5(CTNNA1):c.229del (p.Asp77fs) rs1755336735
NM_001903.5(CTNNA1):c.2304del (p.Asp769fs)
NM_001903.5(CTNNA1):c.2320C>T (p.Gln774Ter) rs2150349160
NM_001903.5(CTNNA1):c.2337C>G (p.Tyr779Ter) rs767711515
NM_001903.5(CTNNA1):c.2358C>G (p.Tyr786Ter)
NM_001903.5(CTNNA1):c.2600del (p.Lys867fs) rs2150359552
NM_001903.5(CTNNA1):c.292C>T (p.Arg98Ter) rs773235871
NM_001903.5(CTNNA1):c.297del (p.Lys99fs) rs2149656983
NM_001903.5(CTNNA1):c.313A>T (p.Lys105Ter) rs2149726948
NM_001903.5(CTNNA1):c.33dup (p.Lys12fs)
NM_001903.5(CTNNA1):c.345del (p.Cys116fs)
NM_001903.5(CTNNA1):c.361C>T (p.Arg121Ter) rs1043413100
NM_001903.5(CTNNA1):c.382dup (p.Ala128fs)
NM_001903.5(CTNNA1):c.392dup (p.Leu131fs) rs1581105705
NM_001903.5(CTNNA1):c.39G>A (p.Trp13Ter)
NM_001903.5(CTNNA1):c.406dup (p.Thr136fs) rs1581105774
NM_001903.5(CTNNA1):c.449T>G (p.Leu150Ter) rs1581105912
NM_001903.5(CTNNA1):c.479dup (p.Ile161fs) rs2149736508
NM_001903.5(CTNNA1):c.511C>T (p.Gln171Ter) rs774590663
NM_001903.5(CTNNA1):c.531T>G (p.Tyr177Ter) rs2149736690
NM_001903.5(CTNNA1):c.53_54dup (p.Glu19Ter) rs1755161249
NM_001903.5(CTNNA1):c.565_571delinsTAATGTT (p.Ile189_Ala191delinsTer) rs1758902024
NM_001903.5(CTNNA1):c.580del (p.Arg194fs)
NM_001903.5(CTNNA1):c.583C>T (p.Gln195Ter)
NM_001903.5(CTNNA1):c.608_623del (p.His203fs)
NM_001903.5(CTNNA1):c.648del (p.Asn217fs) rs1760445854
NM_001903.5(CTNNA1):c.660_666del (p.Tyr222fs)
NM_001903.5(CTNNA1):c.68dup (p.Ala24fs) rs2149651992
NM_001903.5(CTNNA1):c.732dup (p.Tyr245fs)
NM_001903.5(CTNNA1):c.737dup (p.Gln247fs) rs1760460898
NM_001903.5(CTNNA1):c.739C>T (p.Gln247Ter)
NM_001903.5(CTNNA1):c.778C>T (p.Gln260Ter) rs1760465096
NM_001903.5(CTNNA1):c.818dup (p.Gly274fs) rs1760472413
NM_001903.5(CTNNA1):c.860_861del (p.Lys287fs)
NM_001903.5(CTNNA1):c.86del (p.Leu29fs) rs745411817
NM_001903.5(CTNNA1):c.879del (p.Pro293_Leu294insTer) rs1760844159
NM_001903.5(CTNNA1):c.881dup (p.Leu294fs)
NM_001903.5(CTNNA1):c.892G>T (p.Glu298Ter)
NM_001903.5(CTNNA1):c.919G>A (p.Glu307Lys) rs869320697
NM_001903.5(CTNNA1):c.919del (p.Glu307fs) rs1760848495
NM_001903.5(CTNNA1):c.926_936del (p.Leu309fs) rs1581178341
NM_001903.5(CTNNA1):c.953T>C (p.Leu318Ser) rs869320696
NM_001903.5(CTNNA1):c.994C>T (p.Arg332Ter)
NM_001903.5(CTNNA1):c.99del (p.Thr34fs)

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