ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NC_000009.11:g.(?_130586563)_(130587273_?)del
NC_000009.11:g.(?_130586563)_(130592126_?)del
NC_000009.11:g.(?_130586563)_(130592126_?)dup
NC_000009.11:g.(?_130605373)_(130605524_?)dup
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_000118.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_000118.3(ENG):c.259C>T (p.Gln87Ter) rs730880096
NM_000118.3(ENG):c.360+5G>C rs1060501417
NM_000118.3(ENG):c.408del (p.Glu137fs) rs1554810506
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.68-3C>G
NM_000118.3(ENG):c.690-1G>A rs1554810272
NM_000118.3(ENG):c.780_789dup (p.Asp264fs)
NM_000118.3(ENG):c.816+1G>A rs111471193

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