ClinVar Miner

List of variants reported as uncertain significance for Hereditary hemorrhagic telangiectasia

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Minimum conflict level:
ClinVar version:
Total variants: 159
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HGVS dbSNP
NC_000009.12:g.(?_127819612)_(127820047_?)dup
NM_000118.3(ENG):c.1015G>A (p.Ala339Thr) rs761463410
NM_000118.3(ENG):c.1055C>T (p.Pro352Leu) rs1356571461
NM_000118.3(ENG):c.1067T>A (p.Met356Lys) rs138190783
NM_000118.3(ENG):c.1110G>A (p.Leu370=) rs1588580725
NM_000118.3(ENG):c.112G>A (p.Glu38Lys) rs747481834
NM_000118.3(ENG):c.1133C>T (p.Ala378Val) rs143054595
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.1274C>A (p.Ala425Glu) rs369997021
NM_000118.3(ENG):c.1274C>T (p.Ala425Val) rs369997021
NM_000118.3(ENG):c.130T>G (p.Tyr44Asp) rs1554812271
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.1335G>A (p.Met445Ile) rs777564305
NM_000118.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_000118.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_000118.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066
NM_000118.3(ENG):c.1672G>A (p.Gly558Arg) rs373230507
NM_000118.3(ENG):c.1726A>G (p.Ser576Gly) rs1564452024
NM_000118.3(ENG):c.1758C>T (p.Gly586=) rs150566847
NM_000118.3(ENG):c.1762G>A (p.Val588Ile) rs201768056
NM_000118.3(ENG):c.1844C>G (p.Ser615Trp) rs148002300
NM_000118.3(ENG):c.1850C>T (p.Thr617Met) rs201031046
NM_000118.3(ENG):c.1873C>G (p.Gln625Glu) rs147188969
NM_000118.3(ENG):c.322C>T (p.His108Tyr) rs756897517
NM_000118.3(ENG):c.350A>C (p.His117Pro) rs1588585799
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.498G>C (p.Gln166His) rs1167818567
NM_000118.3(ENG):c.534_536del (p.Leu179del) rs1285249384
NM_000118.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_000118.3(ENG):c.575G>A (p.Arg192His) rs1029569378
NM_000118.3(ENG):c.589C>T (p.Arg197Trp) rs780987528
NM_000118.3(ENG):c.593C>T (p.Pro198Leu) rs777633247
NM_000118.3(ENG):c.617G>C (p.Gly206Ala) rs201393380
NM_000118.3(ENG):c.633C>T (p.Gly211=) rs928192105
NM_000118.3(ENG):c.634G>A (p.Val212Met) rs370652082
NM_000118.3(ENG):c.675G>A (p.Pro225=) rs757608428
NM_000118.3(ENG):c.686C>A (p.Ala229Asp) rs971190119
NM_000118.3(ENG):c.694C>T (p.Arg232Trp) rs200372420
NM_000118.3(ENG):c.698C>T (p.Thr233Met) rs139767471
NM_000118.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_000118.3(ENG):c.727G>A (p.Ala243Thr) rs761827492
NM_000118.3(ENG):c.733G>A (p.Gly245Arg) rs762569294
NM_000118.3(ENG):c.742G>A (p.Asp248Asn) rs775160533
NM_000118.3(ENG):c.799_804del (p.His267_Asn268del) rs1588581812
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.806T>C (p.Met269Thr) rs752331196
NM_000118.3(ENG):c.863G>A (p.Arg288His) rs770328302
NM_000118.3(ENG):c.884C>T (p.Thr295Ile) rs12042
NM_000118.3(ENG):c.88T>A (p.Cys30Ser) rs1564462834
NM_000118.3(ENG):c.911G>A (p.Arg304Gln) rs753429934
NM_000118.3(ENG):c.990C>T (p.Cys330=) rs369202854
NM_001114753.3(ENG):c.1026G>T (p.Gln342His)
NM_001114753.3(ENG):c.1027A>G (p.Thr343Ala)
NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro)
NM_001114753.3(ENG):c.1063C>T (p.Leu355Phe)
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr)
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn)
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln)
NM_001114753.3(ENG):c.1110_1115dup (p.Val371_Leu372dup)
NM_001114753.3(ENG):c.1135C>A (p.His379Asn)
NM_001114753.3(ENG):c.1153A>C (p.Thr385Pro)
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys)
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.118G>T (p.Gly40Cys)
NM_001114753.3(ENG):c.1195A>G (p.Arg399Gly)
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser)
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA
NM_001114753.3(ENG):c.1276G>A (p.Val426Met)
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn)
NM_001114753.3(ENG):c.1295G>C (p.Ser432Thr)
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.1427A>G (p.Gln476Arg)
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
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.160G>A (p.Val54Met)
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile)
NM_001114753.3(ENG):c.1695T>A (p.His565Gln)
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.1744T>G (p.Cys582Gly)
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)
NM_001114753.3(ENG):c.1771G>A (p.Ala591Thr)
NM_001114753.3(ENG):c.1774G>A (p.Val592Met)
NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala)
NM_001114753.3(ENG):c.1852+42C>T
NM_001114753.3(ENG):c.194A>G (p.His65Arg)
NM_001114753.3(ENG):c.214C>T (p.Pro72Ser)
NM_001114753.3(ENG):c.219+5G>T
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser)
NM_001114753.3(ENG):c.242C>A (p.Thr81Asn)
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln)
NM_001114753.3(ENG):c.293T>A (p.Val98Asp)
NM_001114753.3(ENG):c.320_328del (p.Leu107_Leu109del)
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.332C>T (p.Ala111Val)
NM_001114753.3(ENG):c.343C>T (p.Pro115Ser)
NM_001114753.3(ENG):c.354G>A (p.Leu118=)
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
NM_001114753.3(ENG):c.373G>C (p.Val125Leu)
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837
NM_001114753.3(ENG):c.413T>C (p.Leu138Pro)
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)
NM_001114753.3(ENG):c.470C>T (p.Thr157Ile)
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
NM_001114753.3(ENG):c.530G>A (p.Gly177Glu)
NM_001114753.3(ENG):c.547A>G (p.Met183Val)
NM_001114753.3(ENG):c.556G>A (p.Ala186Thr)
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn)
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg)
NM_001114753.3(ENG):c.590G>A (p.Arg197Gln)
NM_001114753.3(ENG):c.613C>T (p.Arg205Trp)
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe)
NM_001114753.3(ENG):c.653C>T (p.Ala218Val)
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del)
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu)
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr)
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg)
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr)
NM_001114753.3(ENG):c.695G>A (p.Arg232Gln)
NM_001114753.3(ENG):c.695G>T (p.Arg232Leu)
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.704C>A (p.Thr235Lys)
NM_001114753.3(ENG):c.704C>T (p.Thr235Met)
NM_001114753.3(ENG):c.707T>A (p.Val236Glu)
NM_001114753.3(ENG):c.748G>A (p.Val250Ile)
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr)
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala)
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile)
NM_001114753.3(ENG):c.829T>C (p.Tyr277His)
NM_001114753.3(ENG):c.841A>G (p.Ile281Val)
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp)
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg)
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp)
NM_001114753.3(ENG):c.91G>A (p.Asp31Asn)
NM_001114753.3(ENG):c.923_925dup (p.Ser309_Ile310insThr)
NM_001114753.3(ENG):c.951_956del (p.Pro318_Leu319del)
NM_001114753.3(ENG):c.953C>G (p.Pro318Arg)
NM_001114753.3(ENG):c.970T>C (p.Ser324Pro)
NM_001114753.3(ENG):c.992-3C>T

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