ClinVar Miner

List of variants reported as uncertain significance for Telangiectasia, hereditary hemorrhagic, type 2 by Illumina Laboratory Services, Illumina

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.-52G>A rs573048639 0.00390
NM_000020.3(ACVRL1):c.*242A>G rs147728309 0.00109
NM_000020.3(ACVRL1):c.*2277A>T rs529631289 0.00069
NM_000020.3(ACVRL1):c.*1493G>A rs565400159 0.00061
NM_000020.3(ACVRL1):c.*1689G>A rs139351455 0.00046
NM_000020.3(ACVRL1):c.*2347A>C rs573540605 0.00046
NM_000020.3(ACVRL1):c.*590G>T rs750985560 0.00046
NM_000020.3(ACVRL1):c.-129G>A rs886049607 0.00032
NM_000020.3(ACVRL1):c.*1662A>T rs886049618 0.00026
NM_000020.3(ACVRL1):c.-194A>C rs886049606 0.00016
NM_000020.3(ACVRL1):c.*120G>A rs539571133 0.00014
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846 0.00013
NM_000020.3(ACVRL1):c.*132G>A rs867355962 0.00012
NM_000020.3(ACVRL1):c.*1676T>C rs747662494 0.00009
NM_000020.3(ACVRL1):c.*1777G>A rs546585572 0.00009
NM_000020.3(ACVRL1):c.*1839C>T rs755262319 0.00009
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098 0.00009
NM_000020.3(ACVRL1):c.*1107G>T rs1459562251 0.00003
NM_000020.3(ACVRL1):c.*2113C>T rs777884246 0.00003
NM_000020.3(ACVRL1):c.*2268G>C rs929096514 0.00003
NM_000020.3(ACVRL1):c.*251A>G rs886049613 0.00003
NM_000020.3(ACVRL1):c.518T>C (p.Met173Thr) rs754813319 0.00003
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=) rs556168617 0.00002
NM_000020.3(ACVRL1):c.429C>T (p.Val143=) rs762047618 0.00002
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln) rs778058646 0.00002
NM_000020.3(ACVRL1):c.*1599A>G rs1438021354 0.00001
NM_000020.3(ACVRL1):c.*2098A>C rs886049619 0.00001
NM_000020.3(ACVRL1):c.*2252G>A rs1293668616 0.00001
NM_000020.3(ACVRL1):c.*2440G>T rs527990415 0.00001
NM_000020.3(ACVRL1):c.*814G>A rs1297798490 0.00001
NM_000020.3(ACVRL1):c.*879G>T rs886049615 0.00001
NM_000020.3(ACVRL1):c.*980C>T rs1376992134 0.00001
NM_000020.3(ACVRL1):c.-168G>C rs1465380790 0.00001
NM_000020.3(ACVRL1):c.-58G>A rs886049608 0.00001
NM_000020.3(ACVRL1):c.722G>A (p.Arg241Gln) rs202062929 0.00001
NM_000020.3(ACVRL1):c.*131C>T rs886049610
NM_000020.3(ACVRL1):c.*1351G>A rs886049616
NM_000020.3(ACVRL1):c.*1560A>G rs80260084
NM_000020.3(ACVRL1):c.*1630C>T rs886049617
NM_000020.3(ACVRL1):c.*200A>G rs886049611
NM_000020.3(ACVRL1):c.*2034G>T rs1941017240
NM_000020.3(ACVRL1):c.*205G>A rs886049612
NM_000020.3(ACVRL1):c.*478G>A rs1940976966
NM_000020.3(ACVRL1):c.*592G>A rs1940979955
NM_000020.3(ACVRL1):c.1163A>G (p.Asp388Gly) rs1940835356
NM_000020.3(ACVRL1):c.713C>T (p.Ser238Phe) rs761033311

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