ClinVar Miner

List of variants in gene combination CTNNB1, LOC126806659 reported as pathogenic for CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001904.4(CTNNB1):c.1183C>T (p.Gln395Ter)
NM_001904.4(CTNNB1):c.1185+1dup
NM_001904.4(CTNNB1):c.1272_1275del (p.Ser425fs) rs398122907
NM_001904.4(CTNNB1):c.1297A>T (p.Lys433Ter) rs1559474364
NM_001904.4(CTNNB1):c.1350dup (p.Val451fs) rs2125639718
NM_001904.4(CTNNB1):c.1351dup (p.Val451fs)
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.1543C>T (p.Arg515Ter) rs397514554
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.1642C>T (p.Gln548Ter)
NM_001904.4(CTNNB1):c.1672C>T (p.Gln558Ter) rs1131692181
NM_001904.4(CTNNB1):c.1683+1del

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