ClinVar Miner

List of variants reported as likely pathogenic for Hereditary hemorrhagic telangiectasia by Invitae

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Total variants: 16
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HGVS dbSNP
NC_000009.11:g.(?_130578190)_(130592112_?)dup
NC_000009.11:g.(?_130586573)_(130592116_?)dup
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824294)_(127825367_?)dup
NC_000009.12:g.(?_127824294)_(127826683_?)del
NM_000118.3(ENG):c.-8_8del (p.Met1fs) rs1588604603
NM_000118.3(ENG):c.1088G>C (p.Cys363Ser) rs1588580782
NM_000118.3(ENG):c.1311G>T (p.Arg437=) rs1554809448
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000118.3(ENG):c.220-1G>A rs1554810936
NM_000118.3(ENG):c.41T>C (p.Leu14Pro) rs1554813788
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys)
NM_001114753.3(ENG):c.1311+5G>A
NM_001114753.3(ENG):c.1686+5G>A
NM_001114753.3(ENG):c.290T>G (p.Leu97Arg)

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