ClinVar Miner

List of variants reported as likely benign for Telangiectasia, hereditary hemorrhagic, type 1

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_005359.6(SMAD4):c.*1169_*1173del rs138404813 0.00832
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955 0.00609
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_001114753.3(ENG):c.1452C>T (p.Ser484=) rs115450389 0.00311
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_005359.6(SMAD4):c.*4867dup rs571773833 0.00286
NM_005359.6(SMAD4):c.*2968del rs574286440 0.00280
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001114753.3(ENG):c.732C>T (p.Pro244=) rs112262663 0.00124
NM_001114753.3(ENG):c.524-15C>T rs201463582 0.00114
NM_001114753.3(ENG):c.225G>A (p.Pro75=) rs116146060 0.00091
NM_001114753.3(ENG):c.*491C>T rs190129922 0.00081
NM_001114753.3(ENG):c.-289A>T rs538284289 0.00081
NM_001114753.3(ENG):c.-186G>A rs569618819 0.00080
NM_001114753.3(ENG):c.-158C>T rs41470844 0.00075
NM_001114753.3(ENG):c.159C>T (p.Cys53=) rs148475405 0.00056
NM_001114753.3(ENG):c.1407G>A (p.Pro469=) rs41302657 0.00048
NM_001114753.3(ENG):c.1853-27C>T rs376579767 0.00043
NM_001114753.3(ENG):c.*449C>G rs529337078 0.00042
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) rs140760635 0.00027
NM_001114753.3(ENG):c.1095C>T (p.Asp365=) rs142803546 0.00026
NM_001114753.3(ENG):c.*523A>G rs72616667 0.00024
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser) rs199840979 0.00021
NM_000118.3(ENG):c.-343C>T rs543301425 0.00020
NM_001114753.3(ENG):c.1686+6T>G rs369766351 0.00019
NM_001114753.3(ENG):c.954G>A (p.Pro318=) rs149590262 0.00019
NM_001114753.3(ENG):c.1134+9A>T rs200780733 0.00018
NM_001114753.3(ENG):c.291G>C (p.Leu97=) rs376641299 0.00016
NM_001114753.3(ENG):c.1135-7G>A rs201359896 0.00008
NM_001114753.3(ENG):c.*492G>A rs148192743 0.00007
NM_001114753.3(ENG):c.1712G>A (p.Arg571His) rs138799379 0.00007
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile) rs201768056 0.00007
NM_001114753.3(ENG):c.*558A>G rs143099696 0.00006
NM_001114753.3(ENG):c.-98G>A rs923040659 0.00006
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266 0.00005
NM_001114753.3(ENG):c.689+17G>A rs773103359 0.00005
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786 0.00004
NM_001114753.3(ENG):c.1428+127G>A rs761685402 0.00003
NM_001114753.3(ENG):c.524-13C>T rs756926952 0.00003
NM_005359.5(SMAD4):c.*6588C>G rs186324049 0.00003
NM_001114753.3(ENG):c.*133C>T rs539680928 0.00001
NM_001114753.3(ENG):c.1238G>A (p.Gly413Asp) rs121918401 0.00001
NM_001114753.3(ENG):c.1742-28C>T rs752832223 0.00001
NM_000020.3(ACVRL1):c.*45del rs761647766
NM_000020.3(ACVRL1):c.*856dup rs544534093
NM_001114753.3(ENG):c.*461AACT[1] rs41514846
NM_001114753.3(ENG):c.1290G>T (p.Leu430=) rs377321205
NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly) rs372540985
NM_001114753.3(ENG):c.1852+36G>T rs1588572388
NM_001114753.3(ENG):c.1853-14GCTCCC[3] rs373296026
NM_001114753.3(ENG):c.1977G>A (p.Ter659=) rs1337723089
NM_001114753.3(ENG):c.387G>A (p.Glu129=) rs1588583668
NM_001114753.3(ENG):c.618C>A (p.Gly206=) rs1830599217
NM_001114753.3(ENG):c.816+3G>T
NM_005359.5(SMAD4):c.*6586C>T rs534182161
NM_005359.6(SMAD4):c.*3878dup rs373831598
NM_005359.6(SMAD4):c.*4585GA[1] rs374333786
NM_005359.6(SMAD4):c.*6353del rs573785159

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