ClinVar Miner

List of variants reported for Medulloblastoma; Pilomatrixoma; Neoplasm of ovary; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6
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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.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg) rs1376864427

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