ClinVar Miner

List of variants in gene ENG, LOC102723566 studied for Hereditary hemorrhagic telangiectasia type 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
Download table as spreadsheet
HGVS dbSNP
NC_000009.12:g.(?_127815012)_(127854773_?)del
NC_000009.12:g.(?_127815662)_(127820057_?)del
NM_000118.3(ENG):c.1135-7G>A rs201359896
NM_000118.3(ENG):c.1135-8C>T rs79426098
NM_000118.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_000118.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_000118.3(ENG):c.1169G>A (p.Trp390Ter) rs1564453619
NM_000118.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_000118.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_000118.3(ENG):c.1199del (p.Gly400fs) rs1060501422
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.1238G>T (p.Gly413Val) rs121918401
NM_000118.3(ENG):c.1243C>T (p.Gln415Ter) rs1343053876
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.1273-5C>T rs779103881
NM_000118.3(ENG):c.1286dup (p.Leu430fs) rs1554809455
NM_000118.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450
NM_000118.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817
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.1316A>C (p.Lys439Thr) rs368533266
NM_000118.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_000118.3(ENG):c.1334del (p.Met445fs) rs1085307432
NM_000118.3(ENG):c.1351C>T (p.Gln451Ter) rs1554809355
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1389C>T (p.Ala463=) rs200168633
NM_000118.3(ENG):c.1394dup (p.Asn465fs) rs1554809348
NM_000118.3(ENG):c.1406C>T (p.Pro469Leu) rs367753784
NM_000118.3(ENG):c.1407G>A (p.Pro469=) rs41302657
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.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.1428+127G>A rs761685402
NM_000118.3(ENG):c.1428+1G>A rs863223542
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.1429-9_1429-6dup rs762494923
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.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.1479C>A (p.Cys493Ter) rs1197761705
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1515dup (p.Leu506fs) rs1564452667
NM_000118.3(ENG):c.1533G>A (p.Ala511=) rs140760635
NM_000118.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_000118.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
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.1686+6T>G rs369766351
NM_000118.3(ENG):c.1687-117G>A rs1330684
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)
NM_000118.3(ENG):c.1695T>C (p.His565=) rs750637713
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.1712G>A (p.Arg571His) rs138799379
NM_000118.3(ENG):c.1741+10C>T rs1554809082
NM_001114753.2(ENG):c.1415_1417delinsGT (p.Gln472fs) rs1554809331
NM_001114753.3(ENG):c.1183G>T (p.Glu395Ter)
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
NM_001114753.3(ENG):c.1238G>A (p.Gly413Asp)
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr)
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)
NM_001114753.3(ENG):c.1272+2T>C
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1273-2A>T
NM_001114753.3(ENG):c.1282A>C (p.Asn428His) rs875989811
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)
NM_001114753.3(ENG):c.1311+5G>C
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly)
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) rs1564453019
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)
NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter)
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)
NM_001114753.3(ENG):c.1429-8C>G
NM_001114753.3(ENG):c.1437_1456dup (p.Phe486fs)
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro)
NM_001114753.3(ENG):c.1490dup (p.Leu497fs)
NM_001114753.3(ENG):c.1511T>A (p.Val504Glu)
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)
NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs)
NM_001114753.3(ENG):c.1582_1583del (p.Pro528fs)
NM_001114753.3(ENG):c.1614A>G (p.Thr538=)
NM_001114753.3(ENG):c.1626del (p.Thr544fs)
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del) rs777038953
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.