ClinVar Miner

List of variants in gene ENG studied for Haemorrhagic telangiectasia 1

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Total variants: 3
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HGVS dbSNP
NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144

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