ClinVar Miner

List of variants reported as pathogenic for Hereditary hemorrhagic telangiectasia type 1 by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 24
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HGVS dbSNP
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_000118.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_000118.3(ENG):c.1243C>T (p.Gln415Ter) rs1343053876
NM_000118.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817
NM_000118.3(ENG):c.1428+1G>A rs863223542
NM_000118.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)
NM_000118.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_000118.3(ENG):c.588G>A (p.Trp196Ter) rs1588582860
NM_000118.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_000118.3(ENG):c.667del (p.Val223fs) rs1588582666
NM_000118.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_000118.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_000118.3(ENG):c.817-1G>C rs1564455715
NM_000118.3(ENG):c.838A>T (p.Lys280Ter) rs1588581497
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001114753.3(ENG):c.1272+2T>C
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)

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