ClinVar Miner

List of variants reported as benign for Hereditary hemorrhagic telangiectasia by Invitae

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Total variants: 33
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HGVS dbSNP
NM_000118.3(ENG):c.1135-7G>A rs201359896
NM_000118.3(ENG):c.1233C>T (p.Ser411=) rs137870512
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1407G>A (p.Pro469=) rs41302657
NM_000118.3(ENG):c.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.1429-9_1429-6dup rs762494923
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.1455G>A (p.Glu485=) rs150456852
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.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.1761C>T (p.Leu587=) rs546872552
NM_000118.3(ENG):c.179C>A (p.Ala60Asp) rs146100407
NM_000118.3(ENG):c.180C>A (p.Ala60=) rs146188464
NM_000118.3(ENG):c.225G>A (p.Pro75=) rs116146060
NM_000118.3(ENG):c.234G>A (p.Leu78=) rs115675061
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.507C>T (p.Leu169=) rs750014839
NM_000118.3(ENG):c.595C>T (p.Arg199Cys) rs752195587
NM_000118.3(ENG):c.687C>T (p.Ala229=) rs376919650
NM_000118.3(ENG):c.69T>C (p.Ser23=) rs202048202
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_001114753.3(ENG):c.108C>T (p.Gly36=)
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_001114753.3(ENG):c.219+22C>T rs370257876
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464

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