ClinVar Miner

List of variants reported as uncertain significance for Hereditary hemorrhagic telangiectasia type 1

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ClinVar version:
Total variants: 144
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HGVS dbSNP
NM_000118.3(ENG):c.*134G>A rs745843047
NM_000118.3(ENG):c.*26G>C rs371104611
NM_000118.3(ENG):c.*385C>A rs886063475
NM_000118.3(ENG):c.*487C>A rs886063474
NM_000118.3(ENG):c.*501G>A rs764451017
NM_000118.3(ENG):c.*508A>C rs138178682
NM_000118.3(ENG):c.-188G>A rs961480381
NM_000118.3(ENG):c.-246T>C rs886063478
NM_000118.3(ENG):c.-289A>C rs538284289
NM_000118.3(ENG):c.-338G>A rs534779092
NM_000118.3(ENG):c.-339C>T rs554349374
NM_000118.3(ENG):c.-364G>A
NM_000118.3(ENG):c.-395C>A rs886063479
NM_000118.3(ENG):c.-63C>T rs886063476
NM_000118.3(ENG):c.-70del rs886063477
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1036C>T (p.Pro346Ser) rs1554810062
NM_000118.3(ENG):c.1098C>T (p.Asp366=) rs201497772
NM_000118.3(ENG):c.111C>T (p.Pro37=) rs755626994
NM_000118.3(ENG):c.1133C>T (p.Ala378Val) rs143054595
NM_000118.3(ENG):c.1135-8C>T rs79426098
NM_000118.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_000118.3(ENG):c.1217G>A (p.Arg406His) rs149065210
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
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.1311+6A>G rs1060501416
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.1389C>T (p.Ala463=) rs200168633
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.1428+5C>A rs1564452925
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.1585C>T (p.Arg529Cys) rs745316066
NM_000118.3(ENG):c.1592G>A (p.Ser531Asn) rs780884220
NM_000118.3(ENG):c.1682A>C (p.Asp561Ala) rs375965489
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.1780G>A (p.Gly594Ser) rs1060501409
NM_000118.3(ENG):c.1806C>T (p.Ile602=) rs373002544
NM_000118.3(ENG):c.185T>A (p.Leu62His) rs1060501424
NM_000118.3(ENG):c.1873C>G (p.Gln625Glu) rs147188969
NM_000118.3(ENG):c.217A>G (p.Thr73Ala) rs1472137141
NM_000118.3(ENG):c.219+23G>A rs200726108
NM_000118.3(ENG):c.219+3G>A rs1419279746
NM_000118.3(ENG):c.220-6C>A rs756342212
NM_000118.3(ENG):c.310A>G (p.Ser104Gly) rs757343854
NM_000118.3(ENG):c.321G>T (p.Leu107=) rs767907933
NM_000118.3(ENG):c.322C>T (p.His108Tyr) rs756897517
NM_000118.3(ENG):c.360C>T (p.Tyr120=) rs121918402
NM_000118.3(ENG):c.361-12_361-11del rs781079790
NM_000118.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_000118.3(ENG):c.405C>G (p.Thr135=) rs773521685
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.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.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.673C>G (p.Pro225Ala) rs1554810373
NM_000118.3(ENG):c.68-4A>G rs1564462843
NM_000118.3(ENG):c.680A>G (p.His227Arg) rs377548944
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.722G>A (p.Ser241Asn) rs1060501411
NM_000118.3(ENG):c.754A>T (p.Ile252Phe) rs377377549
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.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.805A>G (p.Met269Val) rs1323617205
NM_000118.3(ENG):c.839A>G (p.Lys280Arg) rs774709924
NM_000118.3(ENG):c.850G>A (p.Glu284Lys) rs372045549
NM_000118.3(ENG):c.900G>A (p.Leu300=) rs140155568
NM_001114753.3(ENG):c.*109C>T
NM_001114753.3(ENG):c.*391G>A
NM_001114753.3(ENG):c.*424G>C
NM_001114753.3(ENG):c.*438G>A
NM_001114753.3(ENG):c.*4C>T
NM_001114753.3(ENG):c.*530T>A
NM_001114753.3(ENG):c.*533G>A
NM_001114753.3(ENG):c.*534C>T
NM_001114753.3(ENG):c.*586C>T
NM_001114753.3(ENG):c.-227C>G
NM_001114753.3(ENG):c.-23G>A
NM_001114753.3(ENG):c.-249C>A
NM_001114753.3(ENG):c.-59C>T
NM_001114753.3(ENG):c.-90G>C
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr)
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr)
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
NM_001114753.3(ENG):c.1282A>C (p.Asn428His) rs875989811
NM_001114753.3(ENG):c.1429-8C>G
NM_001114753.3(ENG):c.1511T>A (p.Val504Glu)
NM_001114753.3(ENG):c.1614A>G (p.Thr538=)
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del) rs777038953
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
NM_001114753.3(ENG):c.1852+42C>T
NM_001114753.3(ENG):c.1852+51C>G
NM_001114753.3(ENG):c.1853-18C>T
NM_001114753.3(ENG):c.1853-9C>T
NM_001114753.3(ENG):c.219+22C>T rs370257876
NM_001114753.3(ENG):c.219G>T (p.Thr73=)
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser)
NM_001114753.3(ENG):c.776T>G (p.Val259Gly)
NM_001114753.3(ENG):c.9C>T (p.Arg3=)
NM_005359.5(SMAD4):c.*5543_*5546dupGCGC rs68159021
NM_005359.5(SMAD4):c.*5545_*5546delGC rs68159021
NM_005359.5(SMAD4):c.*5564_*5577dupCACACACACACACA rs56017493
NM_005359.5(SMAD4):c.*5570_*5577dupCACACACA rs56017493
NM_005359.5(SMAD4):c.*5572_*5577delCACACA rs56017493
NM_005359.5(SMAD4):c.*5574_*5577delCACA rs56017493
NM_005359.5(SMAD4):c.*5576_*5577delCA rs56017493
NM_005359.5(SMAD4):c.*5576_*5577dupCA rs56017493
NM_005359.5(SMAD4):c.*6162_*6165delGATT rs886053936
NM_005359.5(SMAD4):c.-503_-501delACA rs886053885
NM_005359.6(SMAD4):c.*1512dup rs755827115
NM_005359.6(SMAD4):c.*1564_*1567del rs886053903
NM_005359.6(SMAD4):c.*2630A>G rs768569083
NM_005359.6(SMAD4):c.*2707_*2711del rs769541605
NM_005359.6(SMAD4):c.*3843G>A rs886053915
NM_005359.6(SMAD4):c.*4991dup rs886053919
NM_005359.6(SMAD4):c.*5004_*5005dup rs113155703
NM_005359.6(SMAD4):c.*5535_*5540del rs147193925
NM_005359.6(SMAD4):c.*5535_*5545delinsGCGCACA rs886053923
NM_005359.6(SMAD4):c.*5535_*5547delinsGCG rs886053924
NM_005359.6(SMAD4):c.*5535_*5549delinsG rs886053925
NM_005359.6(SMAD4):c.*5546_*5547insGCAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACACAC rs1555688055
NM_005359.6(SMAD4):c.*5576C>G rs886053930
NM_005359.6(SMAD4):c.*5757dup rs886053931

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