ClinVar Miner

List of variants reported as pathogenic for Hereditary hemorrhagic telangiectasia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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HGVS dbSNP
NC_000009.11:g.(?_130577951)_(130581121_?)del
NC_000009.11:g.(?_130577951)_(130582326_?)del
NC_000009.11:g.(?_130577951)_(130700109_?)del
NC_000009.11:g.(?_130578090_130581774del
NC_000009.11:g.(?_130578196)_(130592116_?)del
NC_000009.11:g.(?_130579560_130582216del
NC_000009.11:g.(?_130587069)_(130592116_?)del
NC_000009.11:g.(?_130605351)_(130616761_?)del
NC_000009.11:g.(?_130605353)_(130605544_?)del
NC_000009.11:g.(?_130605363)_(130605542_?)dup
NC_000009.12:g.(?_127815672)_(127854482_?)del
NC_000009.12:g.(?_127815907)_(127854365_?)del
NC_000009.12:g.(?_127815917)_(127854482_?)del
NC_000009.12:g.(?_127819602)_(127820057_?)del
NC_000009.12:g.(?_127819612)_(127820047_?)del
NC_000009.12:g.(?_127819612)_(127829837_?)del
NC_000009.12:g.(?_127819616)_(127820043_?)del
NC_000009.12:g.(?_127819622)_(127820037_?)del
NC_000009.12:g.(?_127824294)_(127824456_?)del
NC_000009.12:g.(?_127825214)_(127826683_?)del
NC_000009.12:g.(?_127829681)_(127829833_?)del
NC_000009.12:g.(?_127843084)_(127843255_?)dup
NC_000009.12:g.(?_127854279)_(127854365_?)del
NC_000009.12:g.(?_127854279)_(127854482_?)del
NM_000118.3(ENG):c.-127C>T rs1060501408
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.1235G>A (p.Cys412Tyr) rs1554809513
NM_000118.3(ENG):c.1247dup (p.Ser417fs) rs1588576923
NM_000118.3(ENG):c.1268del (p.Asn423fs) rs1564453538
NM_000118.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450
NM_000118.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817
NM_000118.3(ENG):c.1312A>T (p.Lys438Ter) rs863223536
NM_000118.3(ENG):c.1326C>A (p.Cys442Ter) rs1554809361
NM_000118.3(ENG):c.1327del (p.Leu443fs) rs1060501413
NM_000118.3(ENG):c.1410del (p.Gln471fs) rs1085307433
NM_000118.3(ENG):c.1428+1G>A rs863223542
NM_000118.3(ENG):c.1453G>T (p.Glu485Ter) rs997074986
NM_000118.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_000118.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_000118.3(ENG):c.1509del (p.Val504fs) rs1564452685
NM_000118.3(ENG):c.1646G>A (p.Cys549Tyr) rs1060501421
NM_000118.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
NM_000118.3(ENG):c.1684C>T (p.Gln562Ter) rs1588574749
NM_000118.3(ENG):c.1686+1G>A rs1554809228
NM_000118.3(ENG):c.1687-1G>T rs1554809106
NM_000118.3(ENG):c.1687delG rs1564452075
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)
NM_000118.3(ENG):c.1715T>A (p.Leu572Ter) rs863223539
NM_000118.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_000118.3(ENG):c.219+1G>A rs1554812253
NM_000118.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_000118.3(ENG):c.229C>T (p.Gln77Ter) rs1588585997
NM_000118.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_000118.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_000118.3(ENG):c.280G>T (p.Glu94Ter) rs1588585941
NM_000118.3(ENG):c.314T>A (p.Val105Asp) rs1588585880
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_000118.3(ENG):c.397del (p.Val133fs) rs1588583640
NM_000118.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_000118.3(ENG):c.488_491del (p.Asn163fs) rs1588583530
NM_000118.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_000118.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_000118.3(ENG):c.524-2A>G rs1060501414
NM_000118.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
NM_000118.3(ENG):c.587G>A (p.Trp196Ter) rs1588582870
NM_000118.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_000118.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.689+1G>A rs1588582594
NM_000118.3(ENG):c.690-2A>T rs1564455970
NM_000118.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_000118.3(ENG):c.715dup (p.Glu239fs) rs1554810257
NM_000118.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_000118.3(ENG):c.743del (p.Asp248fs) rs1588581961
NM_000118.3(ENG):c.753_781del (p.Ile252fs) rs1588581867
NM_000118.3(ENG):c.765del (p.Tyr258fs) rs1554810232
NM_000118.3(ENG):c.771del (p.Tyr258fs) rs1588581902
NM_000118.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_000118.3(ENG):c.776del (p.Val259fs) rs1588581880
NM_000118.3(ENG):c.815G>A (p.Trp272Ter) rs1588581785
NM_000118.3(ENG):c.817-1G>C rs1564455715
NM_000118.3(ENG):c.880_881del (p.Asp294fs) rs886042916
NM_000118.3(ENG):c.983_984delinsAG (p.Ser328Ter) rs1588581338
NM_000118.3(ENG):c.991+2T>G rs1564455554
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_000118.3(ENG):c.992-2A>G rs1588580932
NM_001114753.2(ENG):c.562dup (p.Gln188fs) rs1588582962
NM_001114753.3(ENG):c.1005_1006insGT (p.Thr336fs)
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs) rs1064793734
NM_001114753.3(ENG):c.1134G>C (p.Ala378=)
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter)
NM_001114753.3(ENG):c.1238del (p.Gly413fs)
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs)
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
NM_001114753.3(ENG):c.1333dup (p.Met445fs)
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter)
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs)
NM_001114753.3(ENG):c.1470dup (p.Asp491fs)
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter)
NM_001114753.3(ENG):c.1531del (p.Ala511fs)
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
NM_001114753.3(ENG):c.1626dup (p.Lys543fs)
NM_001114753.3(ENG):c.1675del (p.Ser559fs)
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter)
NM_001114753.3(ENG):c.1687-2A>G
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)
NM_001114753.3(ENG):c.1695del (p.His565fs)
NM_001114753.3(ENG):c.1698del (p.Thr567fs)
NM_001114753.3(ENG):c.277dup (p.Arg93fs)
NM_001114753.3(ENG):c.360+1G>C
NM_001114753.3(ENG):c.360+1G>T
NM_001114753.3(ENG):c.375_378dup (p.Phe127fs)
NM_001114753.3(ENG):c.405dup (p.Thr136fs)
NM_001114753.3(ENG):c.461dup (p.Ile156fs)
NM_001114753.3(ENG):c.468del (p.Thr157fs)
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu)
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
NM_001114753.3(ENG):c.523+1G>A
NM_001114753.3(ENG):c.527del (p.Gln176fs)
NM_001114753.3(ENG):c.571_573delinsTG (p.Gly191fs)
NM_001114753.3(ENG):c.577_588delinsGT (p.Thr193fs)
NM_001114753.3(ENG):c.600_603dup (p.Ala202fs)
NM_001114753.3(ENG):c.616_617insCTCCA (p.Gly206fs)
NM_001114753.3(ENG):c.617del (p.Gly206fs)
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter)
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.654_655del (p.Ile220fs)
NM_001114753.3(ENG):c.657_658del (p.Ile220fs)
NM_001114753.3(ENG):c.674del (p.Pro225fs)
NM_001114753.3(ENG):c.689+2T>A
NM_001114753.3(ENG):c.690-1G>C
NM_001114753.3(ENG):c.752_768del (p.Leu251fs)
NM_001114753.3(ENG):c.766_776del (p.Pro256fs)
NM_001114753.3(ENG):c.767_786del (p.Pro256fs)
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs)
NM_001114753.3(ENG):c.787_789del (p.Ile263del)
NM_001114753.3(ENG):c.806T>A (p.Met269Lys)
NM_001114753.3(ENG):c.806T>G (p.Met269Arg)
NM_001114753.3(ENG):c.863_867dup (p.Phe290fs)

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