ClinVar Miner

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

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Total variants: 64
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HGVS dbSNP
NM_000118.3(ENG):c.*10G>T rs1588572388
NM_000118.3(ENG):c.-98G>A rs923040659
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.1319T>G (p.Val440Gly) rs1554809363
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.1428+127G>A rs761685402
NM_000118.3(ENG):c.1428+1G>A rs863223542
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066
NM_000118.3(ENG):c.1687-117G>A rs1330684
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)
NM_000118.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_000118.3(ENG):c.219+23G>A rs200726108
NM_000118.3(ENG):c.219+25G>T rs7847860
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_000118.3(ENG):c.524-15C>T rs201463582
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.686C>A (p.Ala229Asp) rs971190119
NM_000118.3(ENG):c.690-59C>A rs369047677
NM_000118.3(ENG):c.694C>T (p.Arg232Trp) rs200372420
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.991+26_991+27insCCCCTC rs1554810143
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
NM_001114753.3(ENG):c.1272+2T>C
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
NM_001114753.3(ENG):c.1429-8C>G
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955
NM_001114753.3(ENG):c.1977G>A (p.Ter659=)
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_001114753.3(ENG):c.219+22C>T rs370257876
NM_001114753.3(ENG):c.524-13C>T
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_001114753.3(ENG):c.618C>A (p.Gly206=)
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe)
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060

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