ClinVar Miner

List of variants studied for Hereditary hemorrhagic telangiectasia type 1 by Invitae

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ClinVar version:
Total variants: 101
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HGVS dbSNP
NC_000009.11:g.(?_130586563)_(130592126_?)dup
NC_000009.11:g.(?_130605373)_(130605524_?)dup
NC_000009.12:g.(?_127815012)_(127854773_?)del
NC_000009.12:g.(?_127815662)_(127820057_?)del
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.1024C>T (p.Gln342Ter) rs774429348
NM_000118.3(ENG):c.1036C>T (p.Pro346Ser) rs1554810062
NM_000118.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_000118.3(ENG):c.1111dup (p.Val371fs) rs1554810041
NM_000118.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_000118.3(ENG):c.1169G>A (p.Trp390Ter) rs1564453619
NM_000118.3(ENG):c.1199del (p.Gly400fs) rs1060501422
NM_000118.3(ENG):c.119del (p.Gly40fs) rs369596004
NM_000118.3(ENG):c.1217G>A (p.Arg406His) rs149065210
NM_000118.3(ENG):c.1220G>A (p.Ser407Asn) rs1554809516
NM_000118.3(ENG):c.1235_1687-78del
NM_000118.3(ENG):c.1252G>C (p.Ala418Pro) rs150293362
NM_000118.3(ENG):c.1259T>C (p.Met420Thr) rs766272638
NM_000118.3(ENG):c.1286dup (p.Leu430fs) rs1554809455
NM_000118.3(ENG):c.1311+6A>G rs1060501416
NM_000118.3(ENG):c.1311G>C (p.Arg437=) rs1554809448
NM_000118.3(ENG):c.1311dupG rs1554809446
NM_000118.3(ENG):c.1351C>T (p.Gln451Ter) rs1554809355
NM_000118.3(ENG):c.1394dup (p.Asn465fs) rs1554809348
NM_000118.3(ENG):c.1406C>T (p.Pro469Leu) rs367753784
NM_000118.3(ENG):c.1408G>C (p.Gly470Arg) rs756263325
NM_000118.3(ENG):c.1415_1424del (p.Gln472fs) rs1060501412
NM_000118.3(ENG):c.1428+2T>A rs863223543
NM_000118.3(ENG):c.1428+5C>A rs1564452925
NM_000118.3(ENG):c.1429-2A>G rs1564452759
NM_000118.3(ENG):c.1434A>T (p.Arg478Ser) rs778561832
NM_000118.3(ENG):c.1441C>T (p.Pro481Ser) rs1554809289
NM_000118.3(ENG):c.1515dup (p.Leu506fs) rs1564452667
NM_000118.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_000118.3(ENG):c.1592G>A (p.Ser531Asn) rs780884220
NM_000118.3(ENG):c.1671C>T (p.Thr557=) rs369135742
NM_000118.3(ENG):c.1672_1684del (p.Gly558fs) rs1554809229
NM_000118.3(ENG):c.1682A>C (p.Asp561Ala) rs375965489
NM_000118.3(ENG):c.1699A>G (p.Thr567Ala) rs1554809101
NM_000118.3(ENG):c.1702G>A (p.Val568Ile) rs781201877
NM_000118.3(ENG):c.1741+10C>T rs1554809082
NM_000118.3(ENG):c.1780G>A (p.Gly594Ser) rs1060501409
NM_000118.3(ENG):c.185T>A (p.Leu62His) rs1060501424
NM_000118.3(ENG):c.1A>C (p.Met1Leu) rs1060501418
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.217A>G (p.Thr73Ala) rs1472137141
NM_000118.3(ENG):c.219+3G>A rs1419279746
NM_000118.3(ENG):c.224del (p.Pro75fs) rs1554810932
NM_000118.3(ENG):c.229del (p.Gln77fs) rs1554810928
NM_000118.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_000118.3(ENG):c.244del (p.Leu82fs) rs1554810921
NM_000118.3(ENG):c.2T>G (p.Met1Arg) rs267606783
NM_000118.3(ENG):c.310A>G (p.Ser104Gly) rs757343854
NM_000118.3(ENG):c.348G>A (p.Leu116=) rs1205469132
NM_000118.3(ENG):c.360+5G>C rs1060501417
NM_000118.3(ENG):c.360C>T (p.Tyr120=) rs121918402
NM_000118.3(ENG):c.392del (p.Pro131fs) rs1554810510
NM_000118.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_000118.3(ENG):c.539C>T (p.Ser180Phe) rs375025857
NM_000118.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_000118.3(ENG):c.572del (p.Gly191fs) rs1564456374
NM_000118.3(ENG):c.578C>T (p.Thr193Met) rs775442178
NM_000118.3(ENG):c.583G>C (p.Glu195Gln) rs1255912441
NM_000118.3(ENG):c.614G>A (p.Arg205Gln) rs751778614
NM_000118.3(ENG):c.621C>A (p.Cys207Ter) rs1440769928
NM_000118.3(ENG):c.627G>A (p.Leu209=) rs763087751
NM_000118.3(ENG):c.673C>G (p.Pro225Ala) rs1554810373
NM_000118.3(ENG):c.67del (p.Ser23fs) rs878853658
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.68-3C>G rs773334730
NM_000118.3(ENG):c.68-4A>G rs1564462843
NM_000118.3(ENG):c.680A>G (p.His227Arg) rs377548944
NM_000118.3(ENG):c.683C>A (p.Ser228Ter) rs1452543778
NM_000118.3(ENG):c.690-1G>A rs1554810272
NM_000118.3(ENG):c.722G>A (p.Ser241Asn) rs1060501411
NM_000118.3(ENG):c.754A>T (p.Ile252Phe) rs377377549
NM_000118.3(ENG):c.782G>A (p.Trp261Ter) rs1060501420
NM_000118.3(ENG):c.782G>T (p.Trp261Leu) rs1060501420
NM_000118.3(ENG):c.7C>G (p.Arg3Gly) rs139334561
NM_000118.3(ENG):c.805A>G (p.Met269Val) rs1323617205
NM_000118.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_000118.3(ENG):c.831C>A (p.Tyr277Ter) rs121918400
NM_000118.3(ENG):c.839A>G (p.Lys280Arg) rs774709924
NM_000118.3(ENG):c.904G>T (p.Glu302Ter) rs1060501419
NM_000118.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_000118.3(ENG):c.911_918del (p.Arg304fs) rs1564455604
NM_000118.3(ENG):c.991+2T>C rs1564455554
NM_001114753.2(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) rs1064792934
NM_001114753.2(ENG):c.1415_1417delinsGT (p.Gln472fs) rs1554809331
NM_001114753.3(ENG):c.1124_1125del (p.Glu375fs) rs1554810037
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) rs1564453019
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del) rs777038953
NM_001114753.3(ENG):c.219+22C>T rs370257876
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs) rs1554810405
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666

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