ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP
NC_000012.12:g.51907469G>C rs1002184603
NM_000020.2(ACVRL1):c.*1021T>C rs697631
NM_000020.2(ACVRL1):c.*1041G>T rs199949661
NM_000020.2(ACVRL1):c.*1042C>G rs56683171
NM_000020.2(ACVRL1):c.*1042C>T rs56683171
NM_000020.2(ACVRL1):c.*1246T>C rs706819
NM_000020.2(ACVRL1):c.*1560A>C rs80260084
NM_000020.2(ACVRL1):c.*1776C>T rs78150616
NM_000020.2(ACVRL1):c.*1926T>C rs2293094
NM_000020.2(ACVRL1):c.*2281G>T rs114323941
NM_000020.2(ACVRL1):c.*2313G>A rs61914025
NM_000020.2(ACVRL1):c.*2380C>G rs2293093
NM_000020.2(ACVRL1):c.*2398G>A rs2293092
NM_000020.2(ACVRL1):c.*2422A>G rs706820
NM_000020.2(ACVRL1):c.*423C>T rs114741844
NM_000020.2(ACVRL1):c.*499T>G rs572632343
NM_000020.2(ACVRL1):c.*560T>C rs706818
NM_000020.2(ACVRL1):c.*58G>A rs182368657
NM_000020.2(ACVRL1):c.*862G>A rs116256992
NM_000020.2(ACVRL1):c.*869C>T rs113690319
NM_000020.2(ACVRL1):c.*913C>T rs75074181
NM_000020.2(ACVRL1):c.*935G>C rs116740271
NM_000020.2(ACVRL1):c.*949C>T rs810052
NM_000020.2(ACVRL1):c.*992A>G rs567585207
NM_000020.2(ACVRL1):c.-46C>G rs190953189
NM_000020.2(ACVRL1):c.-5-33C>T rs2277382
NM_000020.2(ACVRL1):c.-52G>A rs573048639
NM_000020.2(ACVRL1):c.1122G>T (p.Arg374=) rs187902433
NM_000020.2(ACVRL1):c.1161G>A (p.Thr387=) rs150140878
NM_000020.2(ACVRL1):c.1246+19C>T rs185343653
NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499
NM_000020.2(ACVRL1):c.1377+45T>C rs706815
NM_000020.2(ACVRL1):c.1377+65A>G rs706816
NM_000020.2(ACVRL1):c.1378-248T>G rs2656315
NM_000020.2(ACVRL1):c.1378-30T>C rs142910573
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
NM_000020.2(ACVRL1):c.313+40G>C rs376033978
NM_000020.2(ACVRL1):c.314-35A>G rs2071219
NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) rs77341011
NM_000020.2(ACVRL1):c.625+164T>C rs77709482
NM_000020.2(ACVRL1):c.626-53C>T rs111245531
NM_000020.2(ACVRL1):c.642C>T (p.Gly214=) rs139008591
NM_000020.2(ACVRL1):c.817C>T (p.Leu273=) rs55802125
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000020.2(ACVRL1):c.993C>T (p.Phe331=) rs56379428
NM_000020.3(ACVRL1):c.-5-227C>G rs2277381
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744
NM_000020.3(ACVRL1):c.1377+247_1377+248insTCTG
NM_000020.3(ACVRL1):c.1377+249_1377+250insTGTGTG rs1592227186
NM_000020.3(ACVRL1):c.1377+326G>T rs11609817
NM_000020.3(ACVRL1):c.1377+636C>T rs706817
NM_000020.3(ACVRL1):c.1378-115T>A rs568821415
NM_000020.3(ACVRL1):c.1378-155T>G rs2277383
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113
NM_000020.3(ACVRL1):c.1378-217A>G rs772003
NM_000020.3(ACVRL1):c.1378-248del rs202089535
NM_000020.3(ACVRL1):c.1378-339T>G
NM_000020.3(ACVRL1):c.1378-405A>G rs813471
NM_000020.3(ACVRL1):c.1378-556C>T
NM_000020.3(ACVRL1):c.1378-615_1378-614insGTTGATGAGCTTCCTGGGATGA
NM_000020.3(ACVRL1):c.1378-699C>T
NM_000020.3(ACVRL1):c.1378-711C>T rs116778422
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.3(ACVRL1):c.313+11C>T rs2071218
NM_000020.3(ACVRL1):c.314-49G>C
NM_000020.3(ACVRL1):c.314-65G>C rs113559681
NM_000020.3(ACVRL1):c.543C>T (p.Asp181=) rs140970131
NM_000020.3(ACVRL1):c.62-69G>T rs114852790
NM_000020.3(ACVRL1):c.625+110_625+121del rs1592223149
NM_000020.3(ACVRL1):c.625+110_625+130del rs67833112
NM_000020.3(ACVRL1):c.626-60_626-59delinsT
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=)
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751
NM_000020.3(ACVRL1):c.772+24C>T
NM_000020.3(ACVRL1):c.78G>A (p.Pro26=) rs774167132

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