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: 325
Download table as spreadsheet
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.1306C>T (p.Gln436Ter) rs1554809450 0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 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.(?_130577951)_(130700109_?)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.(?_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.1687delG rs1564452075
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs) rs1830345043
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.1139del (p.His379_Leu380insTer) rs2131879372
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) rs1131691931
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter) rs1564453619
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter)
NM_001114753.3(ENG):c.1175_1176del (p.Pro392fs)
NM_001114753.3(ENG):c.1176del (p.Ser393fs)
NM_001114753.3(ENG):c.1180T>C (p.Cys394Arg)
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.1199del (p.Gly400fs) rs1060501422
NM_001114753.3(ENG):c.119del (p.Gly40fs) rs369596004
NM_001114753.3(ENG):c.1209dup (p.Val404fs) rs2131879220
NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr) rs1554809513
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter) rs1830432773
NM_001114753.3(ENG):c.1238del (p.Gly413fs) rs1830432717
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys) rs1830432509
NM_001114753.3(ENG):c.1247dup (p.Ser417fs) rs1588576923
NM_001114753.3(ENG):c.1268del (p.Asn423fs) rs1564453538
NM_001114753.3(ENG):c.1270dup (p.Glu424fs)
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs) rs1830425406
NM_001114753.3(ENG):c.1286dup (p.Leu430fs) rs1554809455
NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter) rs761353511
NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter)
NM_001114753.3(ENG):c.1311+1G>A
NM_001114753.3(ENG):c.1311+1dup rs1554809446
NM_001114753.3(ENG):c.1311+2T>A
NM_001114753.3(ENG):c.1311+2T>C
NM_001114753.3(ENG):c.1311G>A (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1311G>C (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter) rs863223536
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter) rs1554809361
NM_001114753.3(ENG):c.1327del (p.Leu443fs) rs1060501413
NM_001114753.3(ENG):c.132_133del (p.Thr45fs) rs2131918640
NM_001114753.3(ENG):c.1333dup (p.Met445fs) rs1830399696
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) rs1564453019
NM_001114753.3(ENG):c.1347_1350del (p.Phe450fs) rs2131877041
NM_001114753.3(ENG):c.1351C>T (p.Gln451Ter) rs1554809355
NM_001114753.3(ENG):c.1358del (p.Gly453fs)
NM_001114753.3(ENG):c.1363_1364insC (p.Tyr455fs) rs1064793889
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter) rs774943840
NM_001114753.3(ENG):c.1369dup (p.Ser457fs)
NM_001114753.3(ENG):c.1381_1384del (p.Leu461fs)
NM_001114753.3(ENG):c.1394dup (p.Asn465fs) rs1554809348
NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)
NM_001114753.3(ENG):c.1410del (p.Gln471fs) rs1085307433
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter) rs1830395639
NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter)
NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs) rs1554809331
NM_001114753.3(ENG):c.1415_1424del (p.Gln472fs) rs1060501412
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter) rs965119099
NM_001114753.3(ENG):c.1428+1G>A rs863223542
NM_001114753.3(ENG):c.1428+2T>A rs863223543
NM_001114753.3(ENG):c.1428+2T>C rs863223543
NM_001114753.3(ENG):c.1429-1G>C rs2131876244
NM_001114753.3(ENG):c.1429-2A>G rs1564452759
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter) rs1831082433
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs) rs1830385865
NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter) rs997074986
NM_001114753.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_001114753.3(ENG):c.1470dup (p.Asp491fs) rs1830385077
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter) rs1830384447
NM_001114753.3(ENG):c.149C>A (p.Ser50Ter) rs927607049
NM_001114753.3(ENG):c.1509del (p.Val504fs) rs1564452685
NM_001114753.3(ENG):c.1515del (p.Glu505fs)
NM_001114753.3(ENG):c.1515dup (p.Leu506fs) rs1564452667
NM_001114753.3(ENG):c.1531del (p.Ala511fs) rs2131875912
NM_001114753.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_001114753.3(ENG):c.1550_1551del (p.Val517fs) rs863223541
NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs) rs2131875838
NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs) rs886041325
NM_001114753.3(ENG):c.1572del (p.Glu525fs) rs2131875783
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
NM_001114753.3(ENG):c.1583dup (p.Arg529fs)
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter) rs148475405
NM_001114753.3(ENG):c.1618_1627del (p.Pro540fs)
NM_001114753.3(ENG):c.1626dup (p.Lys543fs) rs1830377451
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr) rs1060501421
NM_001114753.3(ENG):c.164del (p.Ala55fs) rs1831081460
NM_001114753.3(ENG):c.1657del (p.Leu553fs) rs1064794218
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
NM_001114753.3(ENG):c.1672_1684del (p.Gly558fs) rs1554809229
NM_001114753.3(ENG):c.1675del (p.Ser559fs) rs1830375325
NM_001114753.3(ENG):c.1675dup (p.Ser559fs) rs2131875524
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter) rs1830375228
NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter) rs1588574749
NM_001114753.3(ENG):c.1686+1G>A rs1554809228
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001114753.3(ENG):c.1687-1G>T rs1554809106
NM_001114753.3(ENG):c.1687-2A>G rs2131873933
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter) rs2131873923
NM_001114753.3(ENG):c.1695del (p.His565fs) rs1830345505
NM_001114753.3(ENG):c.1698del (p.Thr567fs) rs1830345215
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter) rs863223539
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs)
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)
NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter) rs1762317272

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