ClinVar Miner

List of variants reported as likely pathogenic for Hereditary hemorrhagic telangiectasia type 1

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Total variants: 46
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HGVS dbSNP
NC_000009.11:g.(?_130586563)_(130592126_?)dup
NC_000009.11:g.(?_130605373)_(130605524_?)dup
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NM_000020.2(ACVRL1):c.100dup (p.Cys34fs) 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.-127C>T rs1060501408
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_000118.3(ENG):c.1220G>A (p.Ser407Asn) rs1554809516
NM_000118.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450
NM_000118.3(ENG):c.1429-2A>G rs1564452759
NM_000118.3(ENG):c.1479C>A (p.Cys493Ter) rs1197761705
NM_000118.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
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+4A>G rs1564457752
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.360+5G>C rs1060501417
NM_000118.3(ENG):c.408del (p.Glu137fs) rs1554810506
NM_000118.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_000118.3(ENG):c.581_592del (p.Leu194_Arg197del) rs1554810408
NM_000118.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.68-3C>G rs773334730
NM_000118.3(ENG):c.690-1G>A rs1554810272
NM_000118.3(ENG):c.780_789dup (p.Asp264fs) rs1588581846
NM_000118.3(ENG):c.816+1G>A rs111471193
NM_000118.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)
NM_001114753.3(ENG):c.1311+5G>C
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro)
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170dup)
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe)
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)

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