ClinVar Miner

List of variants reported as benign for capillary malformation by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NC_000012.12:g.51907469G>C rs1002184603
NM_000020.2(ACVRL1):c.*58G>A rs182368657
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.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.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_000020.3(ACVRL1):c.-5-227C>G rs2277381
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.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.747G>A (p.Val249=) rs1058563
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1687-117G>A rs1330684
NM_000118.3(ENG):c.219+25G>T rs7847860
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.524-15C>T rs201463582
NM_000118.3(ENG):c.690-59C>A rs369047677
NM_000118.3(ENG):c.991+26_991+27insCCCCTC rs1554810143
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_001114753.3(ENG):c.219+22C>T rs370257876
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_016204.4(GDF2):c.346+10C>T rs117345807

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