ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_001114753.3(ENG):c.-188G>A rs961480381 0.00017
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val) rs143054595 0.00009
NM_001114753.3(ENG):c.-76C>T rs943786398 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.1019C>T (p.Pro340Leu) rs772135786 0.00004
NM_001114753.3(ENG):c.1067T>A (p.Met356Lys) rs138190783 0.00003
NM_001114753.3(ENG):c.217A>G (p.Thr73Ala) rs1472137141 0.00003
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837 0.00003
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu) rs781715616 0.00003
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala) rs1370586541 0.00003
NM_001114753.3(ENG):c.-59C>T rs1003149967 0.00002
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu) rs1169024767 0.00002
NM_001114753.3(ENG):c.686C>A (p.Ala229Asp) rs971190119 0.00002
NM_001114753.3(ENG):c.-91C>T rs1478547011 0.00001
NM_001114753.3(ENG):c.-99C>T rs1488678420 0.00001
NM_001114753.3(ENG):c.160G>A (p.Val54Met) rs923794879 0.00001
NM_001114753.3(ENG):c.1774G>A (p.Val592Met) rs756003321 0.00001
NM_001114753.3(ENG):c.1782C>T (p.Gly594=) rs1390519046 0.00001
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met) rs201031046 0.00001
NM_001114753.3(ENG):c.1852C>T (p.Arg618Cys) rs1346184000 0.00001
NM_001114753.3(ENG):c.219+3G>A rs1419279746 0.00001
NM_001114753.3(ENG):c.28G>A (p.Val10Ile) rs1829096799 0.00001
NM_001114753.3(ENG):c.310A>G (p.Ser104Gly) rs757343854 0.00001
NM_001114753.3(ENG):c.534_536del (p.Leu179del) rs1285249384 0.00001
NM_001114753.3(ENG):c.575G>A (p.Arg192His) rs1029569378 0.00001
NM_001114753.3(ENG):c.576C>T (p.Arg192=) rs1482783820 0.00001
NM_001114753.3(ENG):c.68-17G>A rs570198729 0.00001
NM_001114753.3(ENG):c.691C>A (p.Pro231Thr) rs769339049 0.00001
NM_001114753.3(ENG):c.698C>T (p.Thr233Met) rs139767471 0.00001
NM_001114753.3(ENG):c.704C>T (p.Thr235Met) rs1361480439 0.00001
NM_001114753.3(ENG):c.754A>T (p.Ile252Phe) rs377377549 0.00001
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn) rs1210433339 0.00001
NM_001114753.3(ENG):c.816+6T>C rs759191907 0.00001
NM_001114753.3(ENG):c.839A>G (p.Lys280Arg) rs774709924 0.00001
NM_001114753.3(ENG):c.841A>G (p.Ile281Val) rs764640510 0.00001
NC_000009.11:g.(?_130578190)_(130616640_?)dup
NC_000009.11:g.(?_130578196)_(130616761_?)dup
NC_000009.11:g.(?_130586563)_(130587263_?)dup
NC_000009.11:g.(?_130586563)_(130588971_?)dup
NC_000009.12:g.(?_127819612)_(127820047_?)dup
NM_001114753.3(ENG):c.-111G>A
NM_001114753.3(ENG):c.-112C>T
NM_001114753.3(ENG):c.-115G>A
NM_001114753.3(ENG):c.-115G>C rs546892762
NM_001114753.3(ENG):c.-117C>T
NM_001114753.3(ENG):c.-123G>A
NM_001114753.3(ENG):c.-12C>T
NM_001114753.3(ENG):c.-133C>T
NM_001114753.3(ENG):c.-141G>T
NM_001114753.3(ENG):c.-154C>T
NM_001114753.3(ENG):c.-21A>G
NM_001114753.3(ENG):c.-24C>T
NM_001114753.3(ENG):c.-2G>T
NM_001114753.3(ENG):c.-59C>A
NM_001114753.3(ENG):c.-62G>A
NM_001114753.3(ENG):c.-69G>A
NM_001114753.3(ENG):c.-70del rs886063477
NM_001114753.3(ENG):c.-75G>A
NM_001114753.3(ENG):c.-77C>G rs1829099196
NM_001114753.3(ENG):c.-78G>A
NM_001114753.3(ENG):c.-79C>T rs1564466502
NM_001114753.3(ENG):c.-90G>C rs768083796
NM_001114753.3(ENG):c.-94C>G
NM_001114753.3(ENG):c.1026G>T (p.Gln342His) rs1830551216
NM_001114753.3(ENG):c.1027A>G (p.Thr343Ala) rs2131886016
NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro) rs2131885993
NM_001114753.3(ENG):c.1036C>T (p.Pro346Ser) rs1554810062
NM_001114753.3(ENG):c.1063C>T (p.Leu355Phe) rs1830549584
NM_001114753.3(ENG):c.1064T>C (p.Leu355Pro)
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr) rs138190783
NM_001114753.3(ENG):c.1067T>G (p.Met356Arg) rs138190783
NM_001114753.3(ENG):c.1076T>A (p.Ile359Asn) rs2131885879
NM_001114753.3(ENG):c.1076T>C (p.Ile359Thr)
NM_001114753.3(ENG):c.1093G>T (p.Asp365Tyr) rs548690138
NM_001114753.3(ENG):c.1099G>C (p.Ala367Pro) rs372371435
NM_001114753.3(ENG):c.1100C>G (p.Ala367Gly)
NM_001114753.3(ENG):c.1106C>T (p.Thr369Ile) rs775352287
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln) rs1830547696
NM_001114753.3(ENG):c.1110_1115dup (p.Leu372_Lys373insValLeu) rs1830547424
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys) rs892005175
NM_001114753.3(ENG):c.119_133del (p.Gly40_Thr45delinsAla)
NM_001114753.3(ENG):c.130T>C (p.Tyr44His) rs1554812271
NM_001114753.3(ENG):c.130T>G (p.Tyr44Asp) rs1554812271
NM_001114753.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_001114753.3(ENG):c.16C>T (p.Leu6Phe)
NM_001114753.3(ENG):c.170C>G (p.Ala57Gly)
NM_001114753.3(ENG):c.1744T>G (p.Cys582Gly) rs1830304920
NM_001114753.3(ENG):c.1748C>G (p.Thr583Arg)
NM_001114753.3(ENG):c.1748C>T (p.Thr583Ile)
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.1786A>G (p.Thr596Ala) rs1830302512
NM_001114753.3(ENG):c.1826C>T (p.Ala609Val)
NM_001114753.3(ENG):c.1852+1G>C rs2131871398
NM_001114753.3(ENG):c.1852+21C>T
NM_001114753.3(ENG):c.1852+3G>A
NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly)
NM_001114753.3(ENG):c.194A>G (p.His65Arg) rs1267116267
NM_001114753.3(ENG):c.200T>C (p.Leu67Pro) rs2131918396
NM_001114753.3(ENG):c.214C>T (p.Pro72Ser) rs1831079928
NM_001114753.3(ENG):c.219+5G>T rs1554812252
NM_001114753.3(ENG):c.219G>T (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.220-12T>A
NM_001114753.3(ENG):c.223C>A (p.Pro75Thr)
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser) rs376186413
NM_001114753.3(ENG):c.266G>C (p.Gly89Ala)
NM_001114753.3(ENG):c.26C>G (p.Ala9Gly)
NM_001114753.3(ENG):c.277C>G (p.Arg93Gly)
NM_001114753.3(ENG):c.310A>C (p.Ser104Arg) rs757343854
NM_001114753.3(ENG):c.320T>G (p.Leu107Arg)
NM_001114753.3(ENG):c.320_328del (p.Leu107_Leu109del) rs1830714023
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.32C>T (p.Ala11Val)
NM_001114753.3(ENG):c.332C>T (p.Ala111Val) rs1029247883
NM_001114753.3(ENG):c.343C>T (p.Pro115Ser) rs759368120
NM_001114753.3(ENG):c.350A>C (p.His117Pro) rs1588585799
NM_001114753.3(ENG):c.359A>G (p.Tyr120Cys) rs863223533
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro) rs1829096574
NM_001114753.3(ENG):c.35T>G (p.Leu12Arg)
NM_001114753.3(ENG):c.360+2dup
NM_001114753.3(ENG):c.373G>C (p.Val125Leu) rs1564456745
NM_001114753.3(ENG):c.374T>A (p.Val125Asp) rs750115837
NM_001114753.3(ENG):c.37C>A (p.Leu13Met)
NM_001114753.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_001114753.3(ENG):c.397G>T (p.Val133Phe)
NM_001114753.3(ENG):c.410A>G (p.Glu137Gly)
NM_001114753.3(ENG):c.428A>C (p.Lys143Thr)
NM_001114753.3(ENG):c.435G>C (p.Gln145His)
NM_001114753.3(ENG):c.451G>T (p.Ala151Ser) rs2131890519
NM_001114753.3(ENG):c.457A>G (p.Arg153Gly)
NM_001114753.3(ENG):c.482A>C (p.Glu161Ala)
NM_001114753.3(ENG):c.485T>C (p.Leu162Pro) rs2131890481
NM_001114753.3(ENG):c.487A>T (p.Asn163Tyr) rs539165395
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro) rs994887264
NM_001114753.3(ENG):c.497A>G (p.Gln166Arg)
NM_001114753.3(ENG):c.498G>C (p.Gln166His) rs1167818567
NM_001114753.3(ENG):c.500G>T (p.Ser167Ile) rs755988915
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn) rs2131890414
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe) rs2131890408
NM_001114753.3(ENG):c.512G>T (p.Arg171Leu)
NM_001114753.3(ENG):c.530G>A (p.Gly177Glu) rs1830603623
NM_001114753.3(ENG):c.536T>C (p.Leu179Pro)
NM_001114753.3(ENG):c.547A>G (p.Met183Val) rs1830603171
NM_001114753.3(ENG):c.549G>A (p.Met183Ile)
NM_001114753.3(ENG):c.556G>A (p.Ala186Thr) rs1427261977
NM_001114753.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_001114753.3(ENG):c.575_577dup (p.Arg192_Thr193insSer)
NM_001114753.3(ENG):c.577A>G (p.Thr193Ala) rs1588582905
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) rs2131889364
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg) rs2131889336
NM_001114753.3(ENG):c.592C>A (p.Pro198Thr) rs902721446
NM_001114753.3(ENG):c.593C>G (p.Pro198Arg) rs777633247
NM_001114753.3(ENG):c.605C>A (p.Ala202Asp) rs750916329
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu) rs1830597676
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del) rs1830596103
NM_001114753.3(ENG):c.67+5G>T
NM_001114753.3(ENG):c.673C>A (p.Pro225Thr)
NM_001114753.3(ENG):c.673C>G (p.Pro225Ala) rs1554810373
NM_001114753.3(ENG):c.67A>C (p.Ser23Arg)
NM_001114753.3(ENG):c.68-4A>G rs1564462843
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr) rs2131888946
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg) rs546671241
NM_001114753.3(ENG):c.689+3A>T
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr) rs1253367171
NM_001114753.3(ENG):c.690-5C>A
NM_001114753.3(ENG):c.692C>A (p.Pro231His) rs1289232116
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del) rs2131888057
NM_001114753.3(ENG):c.695G>T (p.Arg232Leu) rs772467926
NM_001114753.3(ENG):c.697_699del (p.Thr233del)
NM_001114753.3(ENG):c.704C>A (p.Thr235Lys) rs1361480439
NM_001114753.3(ENG):c.712G>T (p.Val238Leu)
NM_001114753.3(ENG):c.716A>T (p.Glu239Val)
NM_001114753.3(ENG):c.728C>T (p.Ala243Val)
NM_001114753.3(ENG):c.752T>A (p.Leu251His)
NM_001114753.3(ENG):c.764G>T (p.Gly255Val) rs2131887828
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser) rs143779963
NM_001114753.3(ENG):c.769C>G (p.Pro257Ala) rs1830580408
NM_001114753.3(ENG):c.770C>T (p.Pro257Leu) rs756252418
NM_001114753.3(ENG):c.775G>A (p.Val259Met)
NM_001114753.3(ENG):c.782G>T (p.Trp261Leu) rs1060501420
NM_001114753.3(ENG):c.790_798del (p.Asp264_Asn266del) rs2131887656
NM_001114753.3(ENG):c.794C>A (p.Ala265Asp) rs2131887657
NM_001114753.3(ENG):c.799_804del (p.His267_Asn268del) rs1588581812
NM_001114753.3(ENG):c.7C>G (p.Arg3Gly) rs139334561
NM_001114753.3(ENG):c.806T>C (p.Met269Thr) rs752331196
NM_001114753.3(ENG):c.817-3T>C
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile) rs1169613826
NM_001114753.3(ENG):c.824G>A (p.Gly275Glu) rs2131887192
NM_001114753.3(ENG):c.829T>C (p.Tyr277His) rs1460443094
NM_001114753.3(ENG):c.830A>G (p.Tyr277Cys)
NM_001114753.3(ENG):c.836T>G (p.Phe279Cys)
NM_001114753.3(ENG):c.844T>G (p.Phe282Val)
NM_001114753.3(ENG):c.854A>G (p.Lys285Arg)
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp) rs1830570208
NM_001114753.3(ENG):c.872_883del (p.Lys291_Asp294del) rs2131887067
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu) rs1830569895
NM_001114753.3(ENG):c.88T>A (p.Cys30Ser) rs1564462834
NM_001114753.3(ENG):c.8G>A (p.Arg3His) rs1588604597
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg) rs1830569316
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp) rs754842280
NM_001114753.3(ENG):c.919A>G (p.Asn307Asp) rs1830568253
NM_001114753.3(ENG):c.91G>A (p.Asp31Asn) rs1831084391
NM_001114753.3(ENG):c.923_925dup (p.Ala308_Ser309insThr) rs1830567981
NM_001114753.3(ENG):c.943G>T (p.Val315Leu)
NM_001114753.3(ENG):c.950T>A (p.Leu317Gln)
NM_001114753.3(ENG):c.950T>C (p.Leu317Pro)
NM_001114753.3(ENG):c.951_956del (p.Pro318_Leu319del) rs1830567220
NM_001114753.3(ENG):c.952C>A (p.Pro318Thr)
NM_001114753.3(ENG):c.953C>G (p.Pro318Arg) rs1830567408
NM_001114753.3(ENG):c.956T>G (p.Leu319Arg)
NM_001114753.3(ENG):c.966T>G (p.Ile322Met)
NM_001114753.3(ENG):c.970T>C (p.Ser324Pro) rs1830566735
NM_001114753.3(ENG):c.982T>A (p.Ser328Thr)
NM_001114753.3(ENG):c.985A>T (p.Ser329Cys) rs1280918470
NM_001114753.3(ENG):c.989G>T (p.Cys330Phe)
NM_001114753.3(ENG):c.992-3C>G rs1830552318
NM_001114753.3(ENG):c.992-3C>T rs1830552318
NM_001114753.3(ENG):c.992G>T (p.Gly331Val)

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