ClinVar Miner

List of variants studied for Telangiectasia, hereditary hemorrhagic, type 2 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.*1246T>C rs706819 0.71921
NM_000020.3(ACVRL1):c.313+11C>T rs2071218 0.45979
NM_000020.3(ACVRL1):c.*560T>C rs706818 0.31441
NM_000020.3(ACVRL1):c.*1926T>C rs2293094 0.13660
NM_000020.3(ACVRL1):c.*869C>T rs113690319 0.12912
NM_000020.3(ACVRL1):c.*913C>T rs75074181 0.12876
NM_000020.3(ACVRL1):c.*2398G>A rs2293092 0.11085
NM_000020.3(ACVRL1):c.*2380C>G rs2293093 0.08542
NM_000020.3(ACVRL1):c.*1021T>C rs697631 0.05250
NM_000020.3(ACVRL1):c.*949C>T rs810052 0.05244
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563 0.04166
NM_000020.3(ACVRL1):c.*2313G>A rs61914025 0.02816
NM_000020.3(ACVRL1):c.*862G>A rs116256992 0.02136
NM_000020.3(ACVRL1):c.*58G>A rs182368657 0.01817
NM_000020.3(ACVRL1):c.*1560A>C rs80260084 0.01740
NM_000020.3(ACVRL1):c.*2422A>G rs706820 0.01556
NM_000020.3(ACVRL1):c.*1776C>T rs78150616 0.01548
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=) rs77341011 0.01461
NM_000020.3(ACVRL1):c.-46C>G rs190953189 0.01297
NM_000020.3(ACVRL1):c.*935G>C rs116740271 0.01206
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744 0.00958
NM_000020.3(ACVRL1):c.*1041G>T rs199949661 0.00887
NM_000020.3(ACVRL1):c.*423C>T rs114741844 0.00592
NM_000020.3(ACVRL1):c.*499T>G rs572632343 0.00446
NM_000020.3(ACVRL1):c.*992A>G rs567585207 0.00409
NM_000020.3(ACVRL1):c.-52G>A rs573048639 0.00390
NM_000020.3(ACVRL1):c.*2281G>T rs114323941 0.00374
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000020.3(ACVRL1):c.*871C>T rs142552361 0.00167
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.207C>T (p.Cys69=) rs56080682 0.00063
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.681C>T (p.Ala227=) rs147005473 0.00040
NM_000020.3(ACVRL1):c.-129G>A rs886049607 0.00032
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499 0.00031
NM_000020.3(ACVRL1):c.*1662A>T rs886049618 0.00026
NM_000020.3(ACVRL1):c.817C>T (p.Leu273=) rs55802125 0.00024
NM_000020.3(ACVRL1):c.*1369C>T rs202206221 0.00022
NM_000020.3(ACVRL1):c.*823C>T rs117777735 0.00016
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.759C>T (p.His253=) rs374020751 0.00006
NM_000020.3(ACVRL1):c.526-11C>T rs573934792 0.00004
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_000020.2(ACVRL1):c.-202C>G rs573855752
NM_000020.3(ACVRL1):c.*1042C>G rs56683171
NM_000020.3(ACVRL1):c.*1042C>T rs56683171
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.*46T>G rs763282018
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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