ClinVar Miner

List of variants studied for CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (5):

Exudative vitreoretinopathy 7
Medulloblastoma; Pilomatrixoma; Ovarian cancer; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Carcinoma of colon; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Exudative vitreoretinopathy 7
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7
Severe intellectual disability-progressive spastic diplegia syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)	rs1064796453
NM_001904.4(CTNNB1):c.564dup (p.Met189fs)	rs2125622579
NM_001904.4(CTNNB1):c.735-1G>A
NM_001904.4(CTNNB1):c.811del (p.Met271fs)	rs2078160335
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter)	rs886041281

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