ClinVar Miner

List of variants studied for Oral cavity telangiectasia; Palate telangiectasia; Spontaneous, recurrent epistaxis; Pulmonary arteriovenous malformation; Telangiectasia of the skin by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 1
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NM_000118.3(ENG):c.1583del (p.Pro528fs) rs1554809253

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