ClinVar Miner

List of variants reported for Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter) rs864321622 0.00001
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) rs1289499829
NM_001371986.1(UNC80):c.9116A>T (p.Glu3039Val) rs1321116872

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