ClinVar Miner

List of variants in gene ACVRL1 reported as benign for capillary malformation

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.*1246T>C rs706819 0.71921
NM_000020.3(ACVRL1):c.314-35A>G rs2071219 0.46706
NM_000020.3(ACVRL1):c.313+11C>T rs2071218 0.45979
NM_000020.3(ACVRL1):c.1378-248T>G rs2656315 0.32172
NM_000020.3(ACVRL1):c.1378-405A>G rs813471 0.31751
NM_000020.3(ACVRL1):c.1377+45T>C rs706815 0.31560
NM_000020.3(ACVRL1):c.1377+65A>G rs706816 0.31557
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.1378-699C>T rs74094825 0.13248
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.-5-227C>G rs2277381 0.08706
NM_000020.3(ACVRL1):c.1378-155T>G rs2277383 0.08548
NM_000020.3(ACVRL1):c.*2380C>G rs2293093 0.08542
NM_000020.3(ACVRL1):c.625+164T>C rs77709482 0.07925
NM_000020.3(ACVRL1):c.-5-33C>T rs2277382 0.07716
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.1378-339T>G rs74094826 0.05144
NM_000020.3(ACVRL1):c.1377+326G>T rs11609817 0.04840
NM_000020.3(ACVRL1):c.1378-217A>G rs772003 0.04704
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563 0.04166
NM_000020.3(ACVRL1):c.61+22A>G rs706812 0.03730
NM_000020.3(ACVRL1):c.*2313G>A rs61914025 0.02816
NM_000020.3(ACVRL1):c.626-53C>T rs111245531 0.02158
NM_000020.3(ACVRL1):c.*862G>A rs116256992 0.02136
NM_000020.3(ACVRL1):c.1378-30T>C rs142910573 0.02009
NM_000020.3(ACVRL1):c.*58G>A rs182368657 0.01817
NM_000020.3(ACVRL1):c.314-65G>C rs113559681 0.01773
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.1377+636C>T rs706817 0.01525
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.1378-216C>T rs111710113 0.01212
NM_000020.3(ACVRL1):c.*935G>C rs116740271 0.01206
NM_000020.3(ACVRL1):c.1378-556C>T rs78740726 0.00969
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000020.3(ACVRL1):c.1246+19C>T rs185343653 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.62-69G>T rs114852790 0.00802
NM_000020.3(ACVRL1):c.*423C>T rs114741844 0.00592
NM_000020.3(ACVRL1):c.1378-711C>T rs116778422 0.00492
NM_000020.3(ACVRL1):c.*499T>G rs572632343 0.00446
NM_000020.3(ACVRL1):c.772+24C>T rs151169686 0.00421
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.1378-115T>A rs568821415 0.00091
NM_000020.3(ACVRL1):c.543C>T (p.Asp181=) rs140970131 0.00090
NM_000020.3(ACVRL1):c.313+40G>C rs376033978 0.00078
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_000020.3(ACVRL1):c.1247-15A>G rs186868158 0.00056
NM_000020.3(ACVRL1):c.642C>T (p.Gly214=) rs139008591 0.00045
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=) rs147005473 0.00040
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499 0.00031
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056 0.00031
NM_000020.3(ACVRL1):c.1122G>T (p.Arg374=) rs187902433 0.00024
NM_000020.3(ACVRL1):c.817C>T (p.Leu273=) rs55802125 0.00024
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00014
NM_000020.3(ACVRL1):c.993C>T (p.Phe331=) rs56379428 0.00011
NM_000020.3(ACVRL1):c.78G>A (p.Pro26=) rs774167132 0.00008
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.1161G>A (p.Thr387=) rs150140878 0.00003
NM_000020.3(ACVRL1):c.61+7A>T rs200221603 0.00002
NC_000012.12:g.51907469G>C rs1002184603
NM_000020.3(ACVRL1):c.*1042C>G rs56683171
NM_000020.3(ACVRL1):c.*1042C>T rs56683171
NM_000020.3(ACVRL1):c.1377+248_1377+251dup rs200979126
NM_000020.3(ACVRL1):c.1377+249TG[18] rs55945390
NM_000020.3(ACVRL1):c.1377+249TG[23] rs55945390
NM_000020.3(ACVRL1):c.1377+745G>A
NM_000020.3(ACVRL1):c.1378-248del rs202089535
NM_000020.3(ACVRL1):c.1378-49C>T
NM_000020.3(ACVRL1):c.1378-595_1378-594insAGTTGATGAGCTTCCTGGGATG rs1344683257
NM_000020.3(ACVRL1):c.314-13C>T
NM_000020.3(ACVRL1):c.314-49G>C rs200624173
NM_000020.3(ACVRL1):c.625+110_625+121del rs1592223149
NM_000020.3(ACVRL1):c.625+110_625+130del rs67833112

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