ClinVar Miner

List of variants studied for CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001904.4(CTNNB1):c.1350dup (p.Val451fs) rs2125639718
NM_001904.4(CTNNB1):c.1406G>A (p.Arg469His)
NM_001904.4(CTNNB1):c.1585G>A (p.Glu529Lys)
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.1658T>C (p.Met553Thr) rs1328515384
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.1961_1962del (p.Tyr654fs)
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001904.4(CTNNB1):c.1981del (p.Arg661fs)
NM_001904.4(CTNNB1):c.1995C>G (p.Asp665Glu) rs77750814
NM_001904.4(CTNNB1):c.2181T>G (p.Asp727Glu)
NM_001904.4(CTNNB1):c.242-1G>T
NM_001904.4(CTNNB1):c.242-3C>A

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