ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP
NC_000009.12:g.(?_127819612)_(127820047_?)del
NC_000009.12:g.(?_127819616)_(127820043_?)del
NC_000009.12:g.(?_127819622)_(127820037_?)del
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)dup
NC_000009.12:g.(?_127843094)_(127843245_?)dup
NM_000020.2(ACVRL1):c.100dup (p.Cys34Leufs) rs1555152440
NM_000020.2(ACVRL1):c.1204G>A (p.Gly402Ser) rs1555153354
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.200G>C (p.Arg67Pro) rs863223414
NM_000020.2(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000118.3(ENG):c.1220G>A (p.Ser407Asn) rs1554809516
NM_000118.3(ENG):c.1311G>T (p.Arg437=)
NM_000118.3(ENG):c.1429-2A>G
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000118.3(ENG):c.1687delG (p.Glu563Lysfs)
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)
NM_000118.3(ENG):c.259C>T (p.Gln87Ter) rs730880096
NM_000118.3(ENG):c.360+5G>C rs1060501417
NM_000118.3(ENG):c.408delA (p.Glu137Serfs) 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.778_787dup (p.Asp264Leufs)
NM_001114753.2(ENG):c.1306C>T (p.Gln436Ter) rs1554809450
NM_001114753.2(ENG):c.1479C>A (p.Cys493Ter) rs1197761705
NM_001114753.2(ENG):c.816+1G>A rs111471193

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