ClinVar Miner

List of variants in gene ENG reported as pathogenic for Hereditary hemorrhagic telangiectasia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001114753.3(ENG):c.-10C>T rs756994701 0.00001
NM_001114753.3(ENG):c.524-2A>G rs1060501414 0.00001
NC_000009.11:g.(?_130577951)_(130581121_?)del
NC_000009.11:g.(?_130577951)_(130582326_?)del
NC_000009.11:g.(?_130578090)_130581774del
NC_000009.11:g.(?_130578196)_(130581131_?)del
NC_000009.11:g.(?_130578196)_(130582336_?)del
NC_000009.11:g.(?_130578196)_(130592116_?)del
NC_000009.11:g.(?_130579418)_(130579492_?)del
NC_000009.11:g.(?_130586563)_(130605544_?)dup
NC_000009.11:g.(?_130586635)_(130592750_?)del
NC_000009.11:g.(?_130587069)_(130592116_?)del
NC_000009.11:g.(?_130605351)_(130616761_?)del
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.(?_127819612)_(127829837_?)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_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.-8_8del (p.Met1fs) rs1588604603
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
NM_001114753.3(ENG):c.1024C>T (p.Gln342Ter) rs774429348
NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) rs1064792934
NM_001114753.3(ENG):c.1042del (p.Asp348fs) rs2131885976
NM_001114753.3(ENG):c.1051_1052del (p.Ser351fs)
NM_001114753.3(ENG):c.1076dup (p.Gln360fs) rs2131885883
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs) rs1554810051
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg) rs2131885848
NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser) rs1588580782
NM_001114753.3(ENG):c.1111dup (p.Val371fs) rs1554810041
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs) rs1064793734
NM_001114753.3(ENG):c.1134+1G>A rs112809381
NM_001114753.3(ENG):c.1134G>C (p.Ala378=) rs1329127701
NM_001114753.3(ENG):c.119del (p.Gly40fs) rs369596004
NM_001114753.3(ENG):c.132_133del (p.Thr45fs) rs2131918640
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter) rs1831082433
NM_001114753.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_001114753.3(ENG):c.149C>A (p.Ser50Ter) rs927607049
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter) rs148475405
NM_001114753.3(ENG):c.164del (p.Ala55fs) rs1831081460
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_001114753.3(ENG):c.1A>C (p.Met1Leu) rs1060501418
NM_001114753.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_001114753.3(ENG):c.218_219insTCCA (p.Gly74fs)
NM_001114753.3(ENG):c.219+1G>A rs1554812253
NM_001114753.3(ENG):c.219+2T>C rs2131918332
NM_001114753.3(ENG):c.219+4_219+7del
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.220-1G>A rs1554810936
NM_001114753.3(ENG):c.224del (p.Pro75fs) rs1554810932
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter) rs1588585997
NM_001114753.3(ENG):c.229del (p.Gln77fs) rs1554810928
NM_001114753.3(ENG):c.233dup (p.Glu79fs)
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter) rs763992842
NM_001114753.3(ENG):c.239del (p.Leu80fs)
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_001114753.3(ENG):c.244del (p.Leu82fs) rs1554810921
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_001114753.3(ENG):c.268_274del (p.Thr90fs)
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.277dup (p.Arg93fs) rs1830717066
NM_001114753.3(ENG):c.278del (p.Arg93fs)
NM_001114753.3(ENG):c.280G>T (p.Glu94Ter) rs1588585941
NM_001114753.3(ENG):c.290T>G (p.Leu97Arg) rs2131895129
NM_001114753.3(ENG):c.2T>G (p.Met1Arg) rs267606783
NM_001114753.3(ENG):c.314T>A (p.Val105Asp) rs1588585880
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter) rs1830713927
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.360+1G>C rs886039505
NM_001114753.3(ENG):c.360+1G>T rs886039505
NM_001114753.3(ENG):c.360+2T>C
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.360+5G>C rs1060501417
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_001114753.3(ENG):c.361-36_370del rs2131890746
NM_001114753.3(ENG):c.375_378dup (p.Phe127fs) rs2131890702
NM_001114753.3(ENG):c.392del (p.Pro131fs) rs1554810510
NM_001114753.3(ENG):c.392dup (p.Val133fs)
NM_001114753.3(ENG):c.397del (p.Val133fs) rs1588583640
NM_001114753.3(ENG):c.397dup (p.Val133fs) rs1588583640
NM_001114753.3(ENG):c.3G>A (p.Met1Ile)
NM_001114753.3(ENG):c.405dup (p.Thr136fs) rs2131890631
NM_001114753.3(ENG):c.41T>C (p.Leu14Pro) rs1554813788
NM_001114753.3(ENG):c.41_51dup (p.Ser18fs)
NM_001114753.3(ENG):c.41del (p.Leu14fs)
NM_001114753.3(ENG):c.437del (p.Ile146fs)
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.457_458del (p.Arg153fs) rs2131890509
NM_001114753.3(ENG):c.461dup (p.Ile156fs) rs1830620889
NM_001114753.3(ENG):c.463_486del (p.Pro155_Leu162del)
NM_001114753.3(ENG):c.468del (p.Thr157fs) rs1830620832
NM_001114753.3(ENG):c.478dup (p.Ala160fs)
NM_001114753.3(ENG):c.488_491del (p.Asn163fs) rs1588583530
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu) rs1830620321
NM_001114753.3(ENG):c.496dup (p.Gln166fs) rs1830620247
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_001114753.3(ENG):c.523+1G>A rs113930974
NM_001114753.3(ENG):c.523+1G>C rs113930974
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_001114753.3(ENG):c.527del (p.Gln176fs) rs1830603743
NM_001114753.3(ENG):c.558del (p.Ser187fs) rs2131889490
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
NM_001114753.3(ENG):c.562dup (p.Gln188fs) rs1588582962
NM_001114753.3(ENG):c.569T>A (p.Met190Lys) rs1830602163
NM_001114753.3(ENG):c.571_573delinsTG (p.Gly191fs) rs1830601919
NM_001114753.3(ENG):c.572del (p.Gly191fs) rs1564456374
NM_001114753.3(ENG):c.577_588delinsGT (p.Thr193fs) rs1830601036
NM_001114753.3(ENG):c.580_596del (p.Leu194fs) rs2131889284
NM_001114753.3(ENG):c.581_605del (p.Leu194fs)
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) rs2131889336
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter) rs1588582870
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter) rs1588582860
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs) rs1554810405
NM_001114753.3(ENG):c.595dup (p.Arg199fs)
NM_001114753.3(ENG):c.600_603dup (p.Ala202fs) rs1830599875
NM_001114753.3(ENG):c.613dup (p.Arg205fs)
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)
NM_001114753.3(ENG):c.617del (p.Gly206fs) rs1830599423
NM_001114753.3(ENG):c.621C>A (p.Cys207Ter) rs1440769928
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter) rs1243079862
NM_001114753.3(ENG):c.635_654del (p.Val212fs)
NM_001114753.3(ENG):c.63del (p.Thr22fs)
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.654_655del (p.Ile220fs) rs2131889054
NM_001114753.3(ENG):c.657_658del (p.Ile220fs) rs2131889044
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001114753.3(ENG):c.662T>G (p.Leu221Arg) rs1554810378
NM_001114753.3(ENG):c.67+1G>A rs1554813783
NM_001114753.3(ENG):c.67+2T>C rs2131936480
NM_001114753.3(ENG):c.674del (p.Pro225fs) rs1830596596
NM_001114753.3(ENG):c.67del (p.Ser23fs) rs878853658
NM_001114753.3(ENG):c.68-18C>A rs372807542
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001114753.3(ENG):c.68-2A>T
NM_001114753.3(ENG):c.68-3C>G rs773334730
NM_001114753.3(ENG):c.683C>A (p.Ser228Ter) rs1452543778
NM_001114753.3(ENG):c.689+1G>A rs1588582594
NM_001114753.3(ENG):c.689+1G>T
NM_001114753.3(ENG):c.689+2T>A rs863223535
NM_001114753.3(ENG):c.690-1G>A rs1554810272
NM_001114753.3(ENG):c.690-1G>C rs1554810272
NM_001114753.3(ENG):c.690-2A>T rs1564455970
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.706_708del (p.Val236del) rs1064794221
NM_001114753.3(ENG):c.707T>A (p.Val236Glu) rs1588582073
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_001114753.3(ENG):c.715dup (p.Glu239fs) rs1554810257
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.743del (p.Asp248fs) rs1588581961
NM_001114753.3(ENG):c.752_768del (p.Leu251fs) rs1830580547
NM_001114753.3(ENG):c.753_781del (p.Ile252fs) rs1588581867
NM_001114753.3(ENG):c.754_756del (p.Ile252del)
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr) rs2131887851
NM_001114753.3(ENG):c.765del (p.Tyr258fs) rs1554810232
NM_001114753.3(ENG):c.766_776del (p.Pro256fs) rs1830579764
NM_001114753.3(ENG):c.767_786del (p.Pro256fs) rs2131887701
NM_001114753.3(ENG):c.770_771del (p.Pro257fs) rs1588581902
NM_001114753.3(ENG):c.771del (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.772del (p.Tyr258fs) rs1830580093
NM_001114753.3(ENG):c.773_776delinsGCAGGGTC (p.Tyr258fs)
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter) rs537154767
NM_001114753.3(ENG):c.776del (p.Val259fs) rs1588581880
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs) rs1830579577
NM_001114753.3(ENG):c.778dup (p.Ser260fs) rs2131887737
NM_001114753.3(ENG):c.782G>A (p.Trp261Ter) rs1060501420
NM_001114753.3(ENG):c.787_789del (p.Ile263del) rs1830579035
NM_001114753.3(ENG):c.806T>A (p.Met269Lys) rs752331196
NM_001114753.3(ENG):c.806T>G (p.Met269Arg) rs752331196
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter) rs1588581785
NM_001114753.3(ENG):c.816+2T>C
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter) rs886041326
NM_001114753.3(ENG):c.817-1G>C rs1564455715
NM_001114753.3(ENG):c.828del (p.Glu276fs)
NM_001114753.3(ENG):c.831C>A (p.Tyr277Ter) rs121918400
NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter) rs121918400
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
NM_001114753.3(ENG):c.836del (p.Phe279fs) rs2131887155
NM_001114753.3(ENG):c.851del (p.Glu284fs) rs2131887114
NM_001114753.3(ENG):c.863_867dup (p.Phe290fs) rs2131887087
NM_001114753.3(ENG):c.872_874delinsT (p.Lys291fs)
NM_001114753.3(ENG):c.875dup (p.Asp294fs)
NM_001114753.3(ENG):c.880_881del (p.Asp294fs) rs886042916
NM_001114753.3(ENG):c.885_886del (p.Pro296fs)
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.904G>T (p.Glu302Ter) rs1060501419
NM_001114753.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_001114753.3(ENG):c.911_918del (p.Arg304fs) rs1564455604
NM_001114753.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_001114753.3(ENG):c.922dup (p.Ala308fs) rs2131886942
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp) rs1482440395
NM_001114753.3(ENG):c.924_927dup (p.Ile310fs)
NM_001114753.3(ENG):c.932T>G (p.Val311Gly)
NM_001114753.3(ENG):c.944_945del (p.Val315fs)
NM_001114753.3(ENG):c.955_956insGAAGACAA (p.Leu319fs)
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
NM_001114753.3(ENG):c.965_966del (p.Ile322fs)
NM_001114753.3(ENG):c.966dup (p.Val323fs)
NM_001114753.3(ENG):c.973dup (p.Leu325fs)
NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter) rs1588581338
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
NM_001114753.3(ENG):c.991+1del
NM_001114753.3(ENG):c.991+2T>C rs1564455554
NM_001114753.3(ENG):c.991+2T>G rs1564455554
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001114753.3(ENG):c.992-2A>G rs1588580932
NM_001114753.3(ENG):c.996_997dup (p.Arg333fs) rs2131886094
NM_001114753.3(ENG):c.997_1001del (p.Arg333fs)

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