ClinVar Miner

List of variants studied for CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_001904.4(CTNNB1):c.14-4A>G rs5743391 0.00827
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=) rs4135386 0.00390
NM_001904.4(CTNNB1):c.1683+17A>G rs2276826 0.00068
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=) rs74692094 0.00041
NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys) rs748653573 0.00002
NC_000003.11:g.(41241162_41265511)_(41268844_41274831)del
NM_001904.4(CTNNB1):c.1014G>A (p.Trp338Ter) rs1454068577
NM_001904.4(CTNNB1):c.1016_1025delinsT (p.Thr339_Arg342delinsIle) rs1559470315
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs) rs1575320216
NM_001904.4(CTNNB1):c.1043C>T (p.Ser348Phe)
NM_001904.4(CTNNB1):c.1082-1G>A
NM_001904.4(CTNNB1):c.1082-1G>C rs2125637461
NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile) rs1553631770
NM_001904.4(CTNNB1):c.1163T>C (p.Leu388Pro) rs1559474140
NM_001904.4(CTNNB1):c.1178dup (p.Thr393_Lys394insTer) rs2125638080
NM_001904.4(CTNNB1):c.1183C>T (p.Gln395Ter)
NM_001904.4(CTNNB1):c.1185+1dup
NM_001904.4(CTNNB1):c.1186-3T>G rs1212452748
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.1255T>C (p.Cys419Arg)
NM_001904.4(CTNNB1):c.1271T>G (p.Leu424Arg) rs863224864
NM_001904.4(CTNNB1):c.1272_1275del (p.Ser425fs) rs398122907
NM_001904.4(CTNNB1):c.1287C>A (p.Cys429Ter) rs2078362215
NM_001904.4(CTNNB1):c.1297A>T (p.Lys433Ter) rs1559474364
NM_001904.4(CTNNB1):c.1309_1316del (p.Met437fs)
NM_001904.4(CTNNB1):c.1314dup (p.Cys439fs)
NM_001904.4(CTNNB1):c.133del (p.Ser45fs) rs2125617589
NM_001904.4(CTNNB1):c.1350dup (p.Val451fs) rs2125639718
NM_001904.4(CTNNB1):c.1351dup (p.Val451fs)
NM_001904.4(CTNNB1):c.1406G>A (p.Arg469His)
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs) rs1057519379
NM_001904.4(CTNNB1):c.1524+2T>A rs878960699
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg) rs1376864427
NM_001904.4(CTNNB1):c.1585G>A (p.Glu529Lys)
NM_001904.4(CTNNB1):c.1588C>T (p.Gln530Ter) rs1559474966
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.1612C>T (p.Gln538Ter)
NM_001904.4(CTNNB1):c.163G>T (p.Glu55Ter) rs2125617859
NM_001904.4(CTNNB1):c.1642C>T (p.Gln548Ter)
NM_001904.4(CTNNB1):c.1658T>C (p.Met553Thr) rs1328515384
NM_001904.4(CTNNB1):c.1672C>T (p.Gln558Ter) rs1131692181
NM_001904.4(CTNNB1):c.1683+1del
NM_001904.4(CTNNB1):c.1690dup (p.Val564fs)
NM_001904.4(CTNNB1):c.1706del (p.Ile569fs) rs2125644627
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg) rs797044875
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001904.4(CTNNB1):c.1803+2T>G
NM_001904.4(CTNNB1):c.1829_1832del (p.Ile610fs) rs2078435023
NM_001904.4(CTNNB1):c.1836_1837dup (p.Val613fs)
NM_001904.4(CTNNB1):c.1863dup (p.Ala622fs)
NM_001904.4(CTNNB1):c.1900G>T (p.Glu634Ter) rs1575334103
NM_001904.4(CTNNB1):c.1904dup (p.Ala636fs)
NM_001904.4(CTNNB1):c.1924G>T (p.Glu642Ter) rs2078436466
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs) rs1553632361
NM_001904.4(CTNNB1):c.1961_1962del (p.Tyr654fs)
NM_001904.4(CTNNB1):c.1962T>G (p.Tyr654Ter) rs750402920
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001904.4(CTNNB1):c.1981del (p.Arg661fs)
NM_001904.4(CTNNB1):c.1982G>C (p.Arg661Pro) rs2125647004
NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter) rs886041553
NM_001904.4(CTNNB1):c.1995C>G (p.Asp665Glu) rs77750814
NM_001904.4(CTNNB1):c.2008dup (p.Tyr670fs) rs2125647138
NM_001904.4(CTNNB1):c.2076G>C (p.Glu692Asp) rs1559477241
NM_001904.4(CTNNB1):c.2083del (p.Asp695fs)
NM_001904.4(CTNNB1):c.2099T>C (p.Ile700Thr) rs2078481368
NM_001904.4(CTNNB1):c.211dup (p.Ser71fs) rs1575315766
NM_001904.4(CTNNB1):c.2125dup (p.Tyr709fs)
NM_001904.4(CTNNB1):c.2140C>T (p.Pro714Ser)
NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter) rs1057519380
NM_001904.4(CTNNB1):c.2181T>G (p.Asp727Glu)
NM_001904.4(CTNNB1):c.2273del (p.His758fs) rs1575339920
NM_001904.4(CTNNB1):c.242-1G>T
NM_001904.4(CTNNB1):c.242-3C>A
NM_001904.4(CTNNB1):c.242-5T>G rs2125619523
NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter) rs1369821061
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001904.4(CTNNB1):c.306del (p.Thr102_Leu103insTer) rs2078141730
NM_001904.4(CTNNB1):c.337C>T (p.Gln113Ter) rs1553630279
NM_001904.4(CTNNB1):c.374T>A (p.Leu125Ter)
NM_001904.4(CTNNB1):c.427_470dup (p.Lys158_Leu159insMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys) rs1553630304
NM_001904.4(CTNNB1):c.43G>A (p.Glu15Lys) rs1575315288
NM_001904.4(CTNNB1):c.468dup (p.Thr157fs) rs1575316657
NM_001904.4(CTNNB1):c.495+1G>C rs1559468403
NM_001904.4(CTNNB1):c.496-2A>G
NM_001904.4(CTNNB1):c.564dup (p.Met189fs) rs2125622579
NM_001904.4(CTNNB1):c.614C>T (p.Thr205Ile)
NM_001904.4(CTNNB1):c.646G>A (p.Gly216Arg) rs2125623075
NM_001904.4(CTNNB1):c.696dup (p.Lys233Ter) rs2125623360
NM_001904.4(CTNNB1):c.705dup (p.Gly236fs) rs587777412
NM_001904.4(CTNNB1):c.735-1G>A
NM_001904.4(CTNNB1):c.735-22_747del
NM_001904.4(CTNNB1):c.807del (p.Met271fs) rs2078160286
NM_001904.4(CTNNB1):c.811del (p.Met271fs) rs2078160335
NM_001904.4(CTNNB1):c.81dup (p.Gln28fs)
NM_001904.4(CTNNB1):c.865_867delinsCC (p.Thr289fs) rs1553630507
NM_001904.4(CTNNB1):c.865_869del (p.Thr289fs)
NM_001904.4(CTNNB1):c.917A>T (p.Tyr306Phe) rs2078162003
NM_001904.4(CTNNB1):c.923del (p.Asn308fs)
NM_001904.4(CTNNB1):c.925C>T (p.Gln309Ter) rs376393123
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter) rs886041281
NM_001904.4(CTNNB1):c.999C>G (p.Tyr333Ter) rs778624338
NM_001904.4(CTNNB1):c.999del (p.Thr332_Tyr333insTer)
NM_001904.4:c.1_1081del

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