ClinVar Miner

List of variants reported as likely pathogenic for capillary malformation by Invitae

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His) rs141764916 0.00016
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu) rs1283365095 0.00001
NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp) rs999380946 0.00001
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) rs1486994359 0.00001
NM_016204.4(GDF2):c.329G>A (p.Arg110Gln) rs1443463485 0.00001
NC_000005.10:g.(?_87390790)_(87390893_?)del
NC_000005.9:g.(?_86627145)_(86672402_?)dup
NC_000009.11:g.(?_130578190)_(130592112_?)dup
NC_000009.11:g.(?_130586563)_(130592126_?)dup
NC_000009.11:g.(?_130586573)_(130592116_?)del
NC_000009.11:g.(?_130587069)_(130592116_?)dup
NC_000009.11:g.(?_130605373)_(130605524_?)dup
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824294)_(127825367_?)dup
NC_000009.12:g.(?_127824294)_(127826683_?)del
NM_000020.3(ACVRL1):c.1004A>G (p.Asn335Ser) rs1060503247
NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile) rs1060503247
NM_000020.3(ACVRL1):c.1007T>A (p.Val336Glu) rs1565594467
NM_000020.3(ACVRL1):c.1030_1048+18del rs1940812948
NM_000020.3(ACVRL1):c.1039G>C (p.Ala347Pro)
NM_000020.3(ACVRL1):c.1044C>G (p.Asp348Glu)
NM_000020.3(ACVRL1):c.1048+5G>A
NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser)
NM_000020.3(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.3(ACVRL1):c.1049-1G>T rs1060503242
NM_000020.3(ACVRL1):c.1055C>T (p.Ala352Val)
NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg) rs2139064443
NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly) rs28936401
NM_000020.3(ACVRL1):c.1121G>C (p.Arg374Pro) rs1060503248
NM_000020.3(ACVRL1):c.1124A>T (p.Tyr375Phe) rs1085307416
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg) rs1940833669
NM_000020.3(ACVRL1):c.1136A>G (p.Glu379Gly)
NM_000020.3(ACVRL1):c.1136A>T (p.Glu379Val)
NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro) rs1085307417
NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn) rs1592225036
NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val) rs1592225044
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp) rs2139076990
NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys) rs2139077046
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly) rs1565595121
NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr) rs1184716348
NM_000020.3(ACVRL1):c.1231_1246+4dup rs1940838178
NM_000020.3(ACVRL1):c.1247-1G>C rs2139083899
NM_000020.3(ACVRL1):c.1261T>A (p.Tyr421Asn)
NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr) rs1085307419
NM_000020.3(ACVRL1):c.1270C>G (p.Pro424Ala) rs1085307419
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
NM_000020.3(ACVRL1):c.1378-1G>A rs1060503237
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg) rs1940955941
NM_000020.3(ACVRL1):c.1438C>A (p.Leu480Ile)
NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg) rs1555152468
NM_000020.3(ACVRL1):c.148T>G (p.Trp50Gly) rs1555152468
NM_000020.3(ACVRL1):c.151T>A (p.Cys51Ser)
NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly) rs2139064874
NM_000020.3(ACVRL1):c.205T>G (p.Cys69Gly)
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly) rs1555152520
NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe) rs1060503234
NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp) rs1592221930
NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe) rs863223410
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
NM_000020.3(ACVRL1):c.526G>T (p.Asp176Tyr)
NM_000020.3(ACVRL1):c.557G>T (p.Ser186Ile) rs1288729113
NM_000020.3(ACVRL1):c.61+1G>A
NM_000020.3(ACVRL1):c.61+1G>T
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
NM_000020.3(ACVRL1):c.686A>G (p.Lys229Arg)
NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met) rs1940782891
NM_000020.3(ACVRL1):c.688A>T (p.Ile230Phe)
NM_000020.3(ACVRL1):c.812C>A (p.Thr271Lys) rs2139072795
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409
NM_000020.3(ACVRL1):c.830C>T (p.Thr277Met)
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser) rs1940804969
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro) rs1940807179
NM_000020.3(ACVRL1):c.931G>C (p.Ala311Pro) rs565262730
NM_000020.3(ACVRL1):c.935A>C (p.His312Pro)
NM_000020.3(ACVRL1):c.940C>A (p.His314Asn) rs1565594311
NM_000020.3(ACVRL1):c.983A>G (p.His328Arg)
NM_000020.3(ACVRL1):c.997A>T (p.Ser333Cys) rs2139073944
NM_001114753.3(ENG):c.-58G>A
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr) rs2131879350
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser) rs1830433526
NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)
NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn) rs1554809516
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly) rs1830432884
NM_001114753.3(ENG):c.1241T>G (p.Met414Arg) rs1830432509
NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)
NM_001114753.3(ENG):c.1311+5G>A rs1830423993
NM_001114753.3(ENG):c.1311G>T (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1312-1G>C rs2131877148
NM_001114753.3(ENG):c.1429-23_1429-1del
NM_001114753.3(ENG):c.146T>A (p.Val49Asp)
NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe)
NM_001114753.3(ENG):c.1517T>A (p.Leu506His) rs778594104
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro) rs2131875808
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser) rs1830376644
NM_001114753.3(ENG):c.1686+5G>A rs1830374353
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.219+2T>G
NM_001114753.3(ENG):c.219+5G>A rs1554812252
NM_001114753.3(ENG):c.293T>A (p.Val98Asp) rs1830715947
NM_001114753.3(ENG):c.360+4A>G rs1564457752
NM_001114753.3(ENG):c.360+4_360+7del rs2131894927
NM_001114753.3(ENG):c.361-11T>A
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg) rs2131889169
NM_001114753.3(ENG):c.65_67+19del
NM_001114753.3(ENG):c.679_689+7del
NM_001114753.3(ENG):c.706G>A (p.Val236Met)
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile) rs12042
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg) rs1564462834
NM_001114753.3(ENG):c.895C>G (p.Leu299Val)
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg) rs1830569662
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
NM_001114753.3(ENG):c.991+4A>G rs2131886797
NM_001114753.3(ENG):c.992-49_1046del
NM_002890.3(RASA1):c.1253+2T>C
NM_002890.3(RASA1):c.1333-17_1340del rs1760184679
NM_002890.3(RASA1):c.1453+2T>C
NM_002890.3(RASA1):c.1698+2T>C rs1561316757
NM_002890.3(RASA1):c.1777-2A>T rs1361155142
NM_002890.3(RASA1):c.1935-3T>G rs201249348
NM_002890.3(RASA1):c.2011+1G>A
NM_002890.3(RASA1):c.2011+1G>T
NM_002890.3(RASA1):c.2012-1G>A rs2112490726
NM_002890.3(RASA1):c.2012-2A>G rs2112490719
NM_002890.3(RASA1):c.2487+2T>G rs2112495772
NM_002890.3(RASA1):c.2488-1G>A
NM_002890.3(RASA1):c.2603+2dup rs1580394003
NM_002890.3(RASA1):c.2691-1G>C
NM_002890.3(RASA1):c.2847+1G>A rs1060503438
NM_002890.3(RASA1):c.2926-2_2927del
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) rs1060503440
NM_002890.3(RASA1):c.3060+1G>A
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs) rs1554051094
NM_002890.3(RASA1):c.539+1G>C rs2112223349
NM_002890.3(RASA1):c.539+2T>G
NM_002890.3(RASA1):c.540-2A>C rs2112365844
NM_002890.3(RASA1):c.693-6_711del rs1757676761
NM_002890.3(RASA1):c.828+1G>A rs2112369549
NM_002890.3(RASA1):c.828+1G>T
NM_002890.3(RASA1):c.899_899+3del
NM_016204.4(GDF2):c.1267G>A (p.Val423Met) rs1358534877
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu) rs200330818

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