ClinVar Miner

List of variants studied for Hereditary hemorrhagic telangiectasia type 1 by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 82
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HGVS dbSNP
NC_000009.12:g.127814980_127830815del
NM_000118.3(ENG):c.-127C>T rs1060501408
NM_000118.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786
NM_000118.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_000118.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_000118.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450
NM_000118.3(ENG):c.1334del (p.Met445fs) rs1085307432
NM_000118.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_000118.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
NM_000118.3(ENG):c.1712G>A (p.Arg571His) rs138799379
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.360+4A>G rs1564457752
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_000118.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_000118.3(ENG):c.689+1G>A rs1588582594
NM_000118.3(ENG):c.736del (p.Asp246fs) rs1554810249
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_000118.3(ENG):c.992-2A>G rs1588580932
NM_001114753.3(ENG):c.1183G>T (p.Glu395Ter)
NM_001114753.3(ENG):c.1238G>A (p.Gly413Asp)
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)
NM_001114753.3(ENG):c.1273-2A>T
NM_001114753.3(ENG):c.1311+5G>C
NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly)
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)
NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter)
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)
NM_001114753.3(ENG):c.1437_1456dup (p.Phe486fs)
NM_001114753.3(ENG):c.146del (p.Val49fs)
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro)
NM_001114753.3(ENG):c.1490dup (p.Leu497fs)
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)
NM_001114753.3(ENG):c.1582_1583del (p.Pro528fs)
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
NM_001114753.3(ENG):c.1626del (p.Thr544fs)
NM_001114753.3(ENG):c.164del (p.Ala55fs)
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter)
NM_001114753.3(ENG):c.219+22C>T rs370257876
NM_001114753.3(ENG):c.220-225_991+123del
NM_001114753.3(ENG):c.220-226_1134+331del
NM_001114753.3(ENG):c.220-988_1134+331del
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)
NM_001114753.3(ENG):c.298_299del (p.Ser100fs)
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter)
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
NM_001114753.3(ENG):c.370del (p.Leu124fs)
NM_001114753.3(ENG):c.39del (p.Leu14fs)
NM_001114753.3(ENG):c.496del (p.Gln166fs)
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170dup)
NM_001114753.3(ENG):c.523+229_991+123del
NM_001114753.3(ENG):c.524-1_689+1del
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)
NM_001114753.3(ENG):c.63dup (p.Thr22fs)
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
NM_001114753.3(ENG):c.667dup (p.Val223fs)
NM_001114753.3(ENG):c.68-4227_219+104del
NM_001114753.3(ENG):c.690-2A>G
NM_001114753.3(ENG):c.761_767dup (p.Pro257fs)
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)
NM_001114753.3(ENG):c.772del (p.Tyr258fs)
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)
NM_001114753.3(ENG):c.776T>G (p.Val259Gly)
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs)
NM_001114753.3(ENG):c.817-1G>A
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)
NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs)
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)
NM_001114753.3(ENG):c.967_968del (p.Val323fs)
Single allele

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