List of variants in gene ENG studied for Telangiectasia, hereditary hemorrhagic, type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 258

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.207G>A (p.Leu69=)	rs11545664	0.14184
NM_001114753.3(ENG):c.1029C>T (p.Thr343=)	rs3739817	0.06792
NM_001114753.3(ENG):c.219+25G>T	rs7847860	0.06245
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)	rs35400405	0.04608
NM_001114753.3(ENG):c.1060C>T (p.Leu354=)	rs36092484	0.03618
NM_001114753.3(ENG):c.1794T>C (p.Gly598=)	rs41358947	0.01435
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)	rs41322046	0.01000
NM_001114753.3(ENG):c.1932C>T (p.Ile644=)	rs181330955	0.00609
NM_001114753.3(ENG):c.120C>T (p.Gly40=)	rs41522944	0.00355
NM_001114753.3(ENG):c.1096G>C (p.Asp366His)	rs1800956	0.00353
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)	rs148002300	0.00134
NM_001114753.3(ENG):c.732C>T (p.Pro244=)	rs112262663	0.00124
NM_001114753.3(ENG):c.524-15C>T	rs201463582	0.00114
NM_001114753.3(ENG):c.225G>A (p.Pro75=)	rs116146060	0.00091
NM_001114753.3(ENG):c.1852+52G>C	rs371104611	0.00083
NM_001114753.3(ENG):c.*491C>T	rs190129922	0.00081
NM_001114753.3(ENG):c.-289A>T	rs538284289	0.00081
NM_001114753.3(ENG):c.-186G>A	rs569618819	0.00080
NM_001114753.3(ENG):c.-54C>A	rs2296702	0.00080
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)	rs139398993	0.00077
NM_001114753.3(ENG):c.-158C>T	rs41470844	0.00075
NM_001114753.3(ENG):c.219+22C>T	rs370257876	0.00073
NM_001114753.3(ENG):c.159C>T (p.Cys53=)	rs148475405	0.00056
NM_001114753.3(ENG):c.1853-27C>T	rs376579767	0.00043
NM_001114753.3(ENG):c.*449C>G	rs529337078	0.00042
NM_001114753.3(ENG):c.687C>T (p.Ala229=)	rs376919650	0.00042
NM_001114753.3(ENG):c.-9G>A	rs368423516	0.00040
NM_001114753.3(ENG):c.219+23G>A	rs200726108	0.00037
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)	rs150932144	0.00034
NM_001114753.3(ENG):c.-63C>T	rs886063476	0.00028
NM_001114753.3(ENG):c.1095C>T (p.Asp365=)	rs142803546	0.00026
NM_001114753.3(ENG):c.*523A>G	rs72616667	0.00024
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)	rs139334561	0.00024
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)	rs199840979	0.00021
NM_000118.3(ENG):c.-343C>T	rs543301425	0.00020
NM_001114753.3(ENG):c.-246T>C	rs886063478	0.00020
NM_001114753.3(ENG):c.954G>A (p.Pro318=)	rs149590262	0.00019
NM_001114753.3(ENG):c.1134+9A>T	rs200780733	0.00018
NM_001114753.3(ENG):c.-188G>A	rs961480381	0.00017
NM_001114753.3(ENG):c.291G>C (p.Leu97=)	rs376641299	0.00016
NM_001114753.3(ENG):c.321G>T (p.Leu107=)	rs767907933	0.00015
NM_001114753.3(ENG):c.322C>T (p.His108Tyr)	rs756897517	0.00015
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp)	rs200372420	0.00014
NM_001114753.3(ENG):c.-227C>G	rs955866378	0.00013
NM_001114753.3(ENG):c.*266G>A	rs764451017	0.00010
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys)	rs372045549	0.00010
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val)	rs143054595	0.00009
NM_001114753.3(ENG):c.*273A>C	rs138178682	0.00008
NM_001114753.3(ENG):c.1098C>T (p.Asp366=)	rs201497772	0.00008
NM_001114753.3(ENG):c.1852+21C>G	rs147188969	0.00008
NM_001114753.3(ENG):c.690-59C>A	rs369047677	0.00008
NM_001114753.3(ENG):c.*492G>A	rs148192743	0.00007
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)	rs199675436	0.00007
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)	rs201768056	0.00007
NM_001114753.3(ENG):c.*558A>G	rs143099696	0.00006
NM_001114753.3(ENG):c.-98G>A	rs923040659	0.00006
NM_001114753.3(ENG):c.1852+42C>T	rs779974705	0.00006
NM_001114753.3(ENG):c.360C>T (p.Tyr120=)	rs121918402	0.00006
NM_001114753.3(ENG):c.-126G>A	rs940261789	0.00005
NM_001114753.3(ENG):c.689+17G>A	rs773103359	0.00005
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)	rs772135786	0.00004
NM_001114753.3(ENG):c.112G>A (p.Glu38Lys)	rs747481834	0.00004
NM_001114753.3(ENG):c.1853-9C>T	rs368472273	0.00004
NM_001114753.3(ENG):c.596G>A (p.Arg199His)	rs548424658	0.00004
NM_001114753.3(ENG):c.9C>T (p.Arg3=)	rs752431673	0.00004
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	rs1329127701	0.00003
NM_001114753.3(ENG):c.374T>C (p.Val125Ala)	rs750115837	0.00003
NM_001114753.3(ENG):c.405C>G (p.Thr135=)	rs773521685	0.00003
NM_001114753.3(ENG):c.524-13C>T	rs756926952	0.00003
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp)	rs780987528	0.00003
NM_001114753.3(ENG):c.900G>A (p.Leu300=)	rs140155568	0.00003
NM_001114753.3(ENG):c.*4C>T	rs775604819	0.00002
NM_001114753.3(ENG):c.-23G>A	rs1311087483	0.00002
NM_001114753.3(ENG):c.-59C>T	rs1003149967	0.00002
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)	rs927607049	0.00002
NM_001114753.3(ENG):c.1806C>T (p.Ile602=)	rs373002544	0.00002
NM_001114753.3(ENG):c.1876G>A (p.Val626Met)	rs745843047	0.00002
NM_001114753.3(ENG):c.361-12_361-11del	rs781079790	0.00002
NM_001114753.3(ENG):c.686C>A (p.Ala229Asp)	rs971190119	0.00002
NM_001114753.3(ENG):c.805A>G (p.Met269Val)	rs1323617205	0.00002
NM_001114753.3(ENG):c.*109C>T	rs553180494	0.00001
NM_001114753.3(ENG):c.*133C>T	rs539680928	0.00001
NM_001114753.3(ENG):c.*150C>A	rs886063475	0.00001
NM_001114753.3(ENG):c.*252C>A	rs886063474	0.00001
NM_001114753.3(ENG):c.*438G>A	rs1830275627	0.00001
NM_001114753.3(ENG):c.*534C>T	rs893984357	0.00001
NM_001114753.3(ENG):c.*586C>T	rs1045413208	0.00001
NM_001114753.3(ENG):c.-249C>A	rs914868382	0.00001
NM_001114753.3(ENG):c.111C>T (p.Pro37=)	rs755626994	0.00001
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met)	rs201031046	0.00001
NM_001114753.3(ENG):c.1853-18C>T	rs908692674	0.00001
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr)	rs768873662	0.00001
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)	rs770290260	0.00001
NM_001114753.3(ENG):c.524-2A>G	rs1060501414	0.00001
NM_001114753.3(ENG):c.633C>T (p.Gly211=)	rs928192105	0.00001
NM_001114753.3(ENG):c.680A>G (p.His227Arg)	rs377548944	0.00001
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn)	rs1210433339	0.00001
NM_001114753.3(ENG):c.943G>A (p.Val315Met)	rs763508329	0.00001
GRCh37/hg19 9q34.11(chr9:130581787-130582459)
NC_000009.11:g.(?_130586563)_(130592126_?)dup
NC_000009.11:g.(?_130605373)_(130605524_?)dup
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824284)_(127854482_?)del
NC_000009.12:g.(?_127829681)_(127829833_?)del
NC_000009.12:g.(?_127843088)_(127843251_?)del
NC_000009.12:g.(?_127843094)_(127843245_?)del
NC_000009.12:g.(?_127854269)_(127854482_?)del
NM_000118.3(ENG):c.-338G>A	rs534779092
NM_000118.3(ENG):c.-339C>T	rs554349374
NM_000118.3(ENG):c.-364G>A	rs1011392059
NM_000118.3(ENG):c.-395C>A	rs886063479
NM_001114753.3(ENG):c.*320G>A	rs41478248
NM_001114753.3(ENG):c.*391G>A	rs1830277239
NM_001114753.3(ENG):c.*424G>C	rs1482022005
NM_001114753.3(ENG):c.*461AACT[1]	rs41514846
NM_001114753.3(ENG):c.*530T>A	rs1830273682
NM_001114753.3(ENG):c.*533G>A	rs1830273631
NM_001114753.3(ENG):c.-115G>C	rs546892762
NM_001114753.3(ENG):c.-127C>T	rs1060501408
NM_001114753.3(ENG):c.-289A>C	rs538284289
NM_001114753.3(ENG):c.-70del	rs886063477
NM_001114753.3(ENG):c.-90G>C	rs768083796
NM_001114753.3(ENG):c.1015_1024del (p.Ala339fs)	rs1554810066
NM_001114753.3(ENG):c.1039A>T (p.Lys347Ter)	rs1446116085
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr)	rs138190783
NM_001114753.3(ENG):c.1076T>C (p.Ile359Thr)
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)	rs863223540
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg)	rs2131885848
NM_001114753.3(ENG):c.1087T>G (p.Cys363Gly)
NM_001114753.3(ENG):c.111del (p.Glu38fs)
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)	rs2131885751
NM_001114753.3(ENG):c.1124_1125del (p.Glu375fs)	rs1554810037
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys)	rs892005175
NM_001114753.3(ENG):c.130T>C (p.Tyr44His)	rs1554812271
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.146del (p.Val49fs)	rs1831082309
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)	rs1564462765
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.1759C>T (p.Leu587Phe)	rs747196026
NM_001114753.3(ENG):c.1780G>A (p.Gly594Ser)	rs1060501409
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)	rs1830302008
NM_001114753.3(ENG):c.1852+36G>T	rs1588572388
NM_001114753.3(ENG):c.1852+51C>G	rs373626498
NM_001114753.3(ENG):c.1853-14GCTCCC[3]	rs373296026
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter)	rs1588596830
NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser)	rs1050077
NM_001114753.3(ENG):c.1977G>A (p.Ter659=)	rs1337723089
NM_001114753.3(ENG):c.1A>G (p.Met1Val)	rs1060501418
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter)	rs1179814153
NM_001114753.3(ENG):c.219+2T>C	rs2131918332
NM_001114753.3(ENG):c.219G>A (p.Thr73=)	rs755348996
NM_001114753.3(ENG):c.219G>T (p.Thr73=)	rs755348996
NM_001114753.3(ENG):c.220-225_991+123del
NM_001114753.3(ENG):c.220-226_1134+331del
NM_001114753.3(ENG):c.220-6C>A	rs756342212
NM_001114753.3(ENG):c.220-988_1134+331del
NM_001114753.3(ENG):c.221G>C (p.Gly74Ala)
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)	rs1830718809
NM_001114753.3(ENG):c.259C>T (p.Gln87Ter)	rs730880096
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	rs886039506
NM_001114753.3(ENG):c.296T>A (p.Leu99His)	rs2131895111
NM_001114753.3(ENG):c.298_299del (p.Ser100fs)	rs1830715784
NM_001114753.3(ENG):c.2T>C (p.Met1Thr)	rs267606783
NM_001114753.3(ENG):c.2T>G (p.Met1Arg)	rs267606783
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)	rs1060501425
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter)	rs1830713927
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)	rs1829096574
NM_001114753.3(ENG):c.360+1G>A	rs886039505
NM_001114753.3(ENG):c.360+4A>G	rs1564457752
NM_001114753.3(ENG):c.360+5G>A	rs1060501417
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter)	rs121918402
NM_001114753.3(ENG):c.361-2A>T
NM_001114753.3(ENG):c.370del (p.Leu124fs)	rs1830624241
NM_001114753.3(ENG):c.387G>A (p.Glu129=)	rs1588583668
NM_001114753.3(ENG):c.392del (p.Pro131fs)	rs1554810510
NM_001114753.3(ENG):c.39del (p.Leu14fs)	rs1829096531
NM_001114753.3(ENG):c.408del (p.Glu137fs)	rs1554810506
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)	rs878853657
NM_001114753.3(ENG):c.465dup (p.Ile156fs)	rs2131890499
NM_001114753.3(ENG):c.496del (p.Gln166fs)	rs1830620247
NM_001114753.3(ENG):c.496dup (p.Gln166fs)	rs1830620247
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)	rs994887264
NM_001114753.3(ENG):c.498G>C (p.Gln166His)	rs1167818567
NM_001114753.3(ENG):c.501C>A (p.Ser167Arg)	rs1830619812
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn)	rs2131890414
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu)	rs1830619692
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe)	rs2131890408
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)	rs1554810490
NM_001114753.3(ENG):c.523+229_991+123del
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)	rs1588583488
NM_001114753.3(ENG):c.524-1G>A	rs2131889572
NM_001114753.3(ENG):c.524-1_689+1del	rs1830595697
NM_001114753.3(ENG):c.558del (p.Ser187fs)	rs2131889490
NM_001114753.3(ENG):c.579_580del (p.Leu194fs)
NM_001114753.3(ENG):c.581_592del (p.Leu194_Arg197del)	rs1554810408
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys)	rs1255912441
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter)	rs1588582860
NM_001114753.3(ENG):c.618C>A (p.Gly206=)	rs1830599217
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)	rs1830599119
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe)	rs1830599119
NM_001114753.3(ENG):c.63dup (p.Thr22fs)	rs1829096099
NM_001114753.3(ENG):c.640_643del (p.Gly214fs)	rs864622666
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)	rs1830597676
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.667del (p.Val223fs)	rs1588582666
NM_001114753.3(ENG):c.667dup (p.Val223fs)	rs1588582666
NM_001114753.3(ENG):c.67+1G>A	rs1554813783
NM_001114753.3(ENG):c.67+6_67+14del	rs2131936455
NM_001114753.3(ENG):c.673C>T (p.Pro225Ser)	rs1554810373
NM_001114753.3(ENG):c.68-1G>A	rs878853659
NM_001114753.3(ENG):c.68-4227_219+104del
NM_001114753.3(ENG):c.683C>T (p.Ser228Leu)
NM_001114753.3(ENG):c.689+1G>A	rs1588582594
NM_001114753.3(ENG):c.690-2A>G	rs1564455970
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1])	rs1588582060
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter)	rs1064794220
NM_001114753.3(ENG):c.721_725del (p.Ser241fs)	rs1064794219
NM_001114753.3(ENG):c.736del (p.Asp246fs)	rs1554810249
NM_001114753.3(ENG):c.761_767dup (p.Pro257fs)	rs1830580607
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)	rs1830580925
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser)	rs143779963
NM_001114753.3(ENG):c.771del (p.Tyr258fs)	rs1588581902
NM_001114753.3(ENG):c.772del (p.Tyr258fs)	rs1830580093
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)	rs537154767
NM_001114753.3(ENG):c.774C>G (p.Tyr258Ter)	rs537154767
NM_001114753.3(ENG):c.776T>G (p.Val259Gly)	rs895393705
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs)	rs1830579577
NM_001114753.3(ENG):c.780_789dup (p.Asp264fs)	rs1588581846
NM_001114753.3(ENG):c.788T>G (p.Ile263Ser)	rs1085307431
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)	rs1554810215
NM_001114753.3(ENG):c.816+1G>A	rs111471193
NM_001114753.3(ENG):c.816+3G>T
NM_001114753.3(ENG):c.817-1G>A	rs1564455715
NM_001114753.3(ENG):c.817-1G>C	rs1564455715
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.838A>T (p.Lys280Ter)	rs1588581497
NM_001114753.3(ENG):c.882_920del (p.Thr295_Asn307del)	rs2131886961
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)	rs1830569895
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)	rs1830569662
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)	rs1335718486
NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs)	rs1830569401
NM_001114753.3(ENG):c.8G>A (p.Arg3His)	rs1588604597
NM_001114753.3(ENG):c.909C>T (p.Ala303=)	rs200306464
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)	rs1482440395
NM_001114753.3(ENG):c.934del (p.Ala312fs)	rs2131886908
NM_001114753.3(ENG):c.967_968del (p.Val323fs)	rs1830566817
NM_001114753.3(ENG):c.974T>G (p.Leu325Arg)	rs760001916
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
NM_001114753.3(ENG):c.991+2T>A
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	rs1060501410
NM_001114753.3(ENG):c.992-2A>G	rs1588580932
Single allele

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