ClinVar Miner

List of variants in gene ENG reported as benign for Osler hemorrhagic telangiectasia syndrome

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Total variants: 14
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HGVS dbSNP
NM_000118.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_000118.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_000118.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_000118.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_000118.3(ENG):c.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_000118.3(ENG):c.219+22C>T rs370257876
NM_000118.3(ENG):c.225G>A (p.Pro75=) rs116146060
NM_000118.3(ENG):c.234G>A (p.Leu78=) rs115675061
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_000118.3(ENG):c.69T>C (p.Ser23=) rs202048202
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000118.3(ENG):c.909C>T (p.Ala303=) rs200306464

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