ClinVar Miner

List of variants reported as uncertain significance for Hereditary hemorrhagic telangiectasia type 1 by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 88
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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.1098C>T (p.Asp366=) rs201497772
NM_000118.3(ENG):c.111C>T (p.Pro37=) rs755626994
NM_000118.3(ENG):c.1135-8C>T rs79426098
NM_000118.3(ENG):c.1273-5C>T rs779103881
NM_000118.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266
NM_000118.3(ENG):c.1389C>T (p.Ala463=) rs200168633
NM_000118.3(ENG):c.1429-9_1429-6dup rs762494923
NM_000118.3(ENG):c.1695T>C (p.His565=) rs750637713
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.220-6C>A rs756342212
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.405C>G (p.Thr135=) rs773521685
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.1241T>C (p.Met414Thr)
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
NM_001114753.3(ENG):c.1511T>A (p.Val504Glu)
NM_001114753.3(ENG):c.1614A>G (p.Thr538=)
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)
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.219G>T (p.Thr73=)
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser)
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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