ClinVar Miner

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

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Gene type:
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Total variants: 143
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HGVS dbSNP
NC_000009.12:g.(?_127819602)_(127820057_?)del
NC_000009.12:g.(?_127819612)_(127820047_?)del
NC_000009.12:g.(?_127819616)_(127820043_?)del
NC_000009.12:g.(?_127819622)_(127820037_?)del
NM_000118.3(ENG):c.1135-7G>A rs201359896
NM_000118.3(ENG):c.1135-8C>T rs79426098
NM_000118.3(ENG):c.1154C>T (p.Thr385Met) rs199764615
NM_000118.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_000118.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_000118.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_000118.3(ENG):c.1233C>T (p.Ser411=) rs137870512
NM_000118.3(ENG):c.1235G>A (p.Cys412Tyr) rs1554809513
NM_000118.3(ENG):c.1247dup (p.Ser417fs) rs1588576923
NM_000118.3(ENG):c.1268del (p.Asn423fs) rs1564453538
NM_000118.3(ENG):c.1273-4G>A rs373308042
NM_000118.3(ENG):c.1273-5C>T rs779103881
NM_000118.3(ENG):c.1274C>A (p.Ala425Glu) rs369997021
NM_000118.3(ENG):c.1274C>T (p.Ala425Val) rs369997021
NM_000118.3(ENG):c.1293G>A (p.Ser431=) rs774036076
NM_000118.3(ENG):c.1299A>G (p.Ser433=) rs762387524
NM_000118.3(ENG):c.1302A>G (p.Ser434=) rs1588576596
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.1311G>T (p.Arg437=) rs1554809448
NM_000118.3(ENG):c.1312A>T (p.Lys438Ter) rs863223536
NM_000118.3(ENG):c.1313A>G (p.Lys438Arg) rs755962839
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.1323C>T (p.His441=) rs751203937
NM_000118.3(ENG):c.1326C>A (p.Cys442Ter) rs1554809361
NM_000118.3(ENG):c.1327del (p.Leu443fs) rs1060501413
NM_000118.3(ENG):c.1335G>A (p.Met445Ile) rs777564305
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.1407G>A (p.Pro469=) rs41302657
NM_000118.3(ENG):c.1410del (p.Gln471fs) rs1085307433
NM_000118.3(ENG):c.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.1428+1G>A rs863223542
NM_000118.3(ENG):c.1429-9C>T rs370836025
NM_000118.3(ENG):c.1429-9_1429-6dup rs762494923
NM_000118.3(ENG):c.1437G>A (p.Val479=) rs754600063
NM_000118.3(ENG):c.1440C>A (p.Ser480=) rs1588575160
NM_000118.3(ENG):c.1446C>T (p.Ser482=) rs143945873
NM_000118.3(ENG):c.1447G>A (p.Val483Ile) rs141330288
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.1453G>T (p.Glu485Ter) rs997074986
NM_000118.3(ENG):c.1455G>A (p.Glu485=) rs150456852
NM_000118.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_000118.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_000118.3(ENG):c.1509del (p.Val504fs) rs1564452685
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1533G>A (p.Ala511=) rs140760635
NM_000118.3(ENG):c.1572C>T (p.Pro524=) rs760682477
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.1632C>T (p.Thr544=) rs117510900
NM_000118.3(ENG):c.1646G>A (p.Cys549Tyr) rs1060501421
NM_000118.3(ENG):c.1672G>A (p.Gly558Arg) rs373230507
NM_000118.3(ENG):c.1684C>T (p.Gln562Ter) rs1588574749
NM_000118.3(ENG):c.1686+1G>A rs1554809228
NM_000118.3(ENG):c.1686+6T>G rs369766351
NM_000118.3(ENG):c.1686+8G>C rs372670034
NM_000118.3(ENG):c.1687-1G>T rs1554809106
NM_000118.3(ENG):c.1687delG rs1564452075
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)
NM_000118.3(ENG):c.1695T>C (p.His565=) rs750637713
NM_000118.3(ENG):c.1698G>A (p.Arg566=) rs1554809103
NM_000118.3(ENG):c.1712G>A (p.Arg571His) rs138799379
NM_000118.3(ENG):c.1715T>A (p.Leu572Ter) rs863223539
NM_000118.3(ENG):c.1726A>G (p.Ser576Gly) rs1564452024
NM_001114753.3(ENG):c.1135C>A (p.His379Asn)
NM_001114753.3(ENG):c.1153A>C (p.Thr385Pro)
NM_001114753.3(ENG):c.1171G>C (p.Asp391His)
NM_001114753.3(ENG):c.1177A>G (p.Ser393Gly)
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr)
NM_001114753.3(ENG):c.1195A>G (p.Arg399Gly)
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser)
NM_001114753.3(ENG):c.1200T>C (p.Gly400=)
NM_001114753.3(ENG):c.1203C>T (p.Asp401=)
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter)
NM_001114753.3(ENG):c.1238del (p.Gly413fs)
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys)
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
NM_001114753.3(ENG):c.1272+8C>A
NM_001114753.3(ENG):c.1273-10A>G
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA
NM_001114753.3(ENG):c.1276G>A (p.Val426Met)
NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs)
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn)
NM_001114753.3(ENG):c.1295G>C (p.Ser432Thr)
NM_001114753.3(ENG):c.1311+5G>A
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
NM_001114753.3(ENG):c.1312-10C>T
NM_001114753.3(ENG):c.1312-12G>A
NM_001114753.3(ENG):c.1312-4C>G
NM_001114753.3(ENG):c.1333dup (p.Met445fs)
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn)
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg)
NM_001114753.3(ENG):c.1385A>G (p.Gln462Arg)
NM_001114753.3(ENG):c.1390T>A (p.Ser464Thr)
NM_001114753.3(ENG):c.1393A>G (p.Asn465Asp)
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter)
NM_001114753.3(ENG):c.1427A>G (p.Gln476Arg)
NM_001114753.3(ENG):c.1428+8G>A
NM_001114753.3(ENG):c.1429-5T>C
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs)
NM_001114753.3(ENG):c.1470dup (p.Asp491fs)
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
NM_001114753.3(ENG):c.1485G>A (p.Leu495=)
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter)
NM_001114753.3(ENG):c.1512G>A (p.Val504=)
NM_001114753.3(ENG):c.1530G>A (p.Arg510=)
NM_001114753.3(ENG):c.1531del (p.Ala511fs)
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr)
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg)
NM_001114753.3(ENG):c.1565C>T (p.Pro522Leu)
NM_001114753.3(ENG):c.1584G>A (p.Pro528=)
NM_001114753.3(ENG):c.1611C>T (p.Tyr537=)
NM_001114753.3(ENG):c.1626dup (p.Lys543fs)
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile)
NM_001114753.3(ENG):c.1650G>A (p.Thr550=)
NM_001114753.3(ENG):c.1674G>C (p.Gly558=)
NM_001114753.3(ENG):c.1675del (p.Ser559fs)
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter)
NM_001114753.3(ENG):c.1686+5G>A
NM_001114753.3(ENG):c.1686+8G>A
NM_001114753.3(ENG):c.1687-2A>G
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)
NM_001114753.3(ENG):c.1695T>A (p.His565Gln)
NM_001114753.3(ENG):c.1695del (p.His565fs)
NM_001114753.3(ENG):c.1698del (p.Thr567fs)
NM_001114753.3(ENG):c.1710G>T (p.Met570Ile)
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721
NM_001114753.3(ENG):c.1724T>C (p.Ile575Thr)
NM_001114753.3(ENG):c.1725C>G (p.Ile575Met)
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)
NM_001114753.3(ENG):c.1741+79G>A

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