ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 250
Download table as spreadsheet
HGVS dbSNP
NM_000020.2(ACVRL1):c.1134C>T (p.Pro378=) rs147021958
NM_000020.2(ACVRL1):c.465C>T (p.Ser155=) rs143735377
NM_000020.2(ACVRL1):c.484C>T (p.Leu162Phe) rs76038779
NM_000020.2(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569
NM_000020.2(ACVRL1):c.666C>T (p.His222=) rs377194545
NM_000020.2(ACVRL1):c.780C>T (p.Ile260=) rs911791104
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000020.3(ACVRL1):c.1032T>C (p.Cys344=)
NM_000020.3(ACVRL1):c.1041C>G (p.Ala347=) rs750685021
NM_000020.3(ACVRL1):c.1041C>T (p.Ala347=)
NM_000020.3(ACVRL1):c.1048+55_1048+58del
NM_000020.3(ACVRL1):c.1098C>T (p.Asn366=) rs779118678
NM_000020.3(ACVRL1):c.1104G>A (p.Pro368=) rs147885255
NM_000020.3(ACVRL1):c.111G>A (p.Glu37=)
NM_000020.3(ACVRL1):c.1173G>A (p.Glu391=)
NM_000020.3(ACVRL1):c.1239C>T (p.Ile413=) rs755557465
NM_000020.3(ACVRL1):c.1275C>T (p.Phe425=) rs191763644
NM_000020.3(ACVRL1):c.1323G>A (p.Val441=) rs1592226875
NM_000020.3(ACVRL1):c.1405C>A (p.Arg469=)
NM_000020.3(ACVRL1):c.1443C>T (p.Thr481=)
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.3(ACVRL1):c.1509A>G (p.Gln503=)
NM_000020.3(ACVRL1):c.24A>G (p.Lys8=)
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=)
NM_000020.3(ACVRL1):c.294C>T (p.Asn98=) rs141429164
NM_000020.3(ACVRL1):c.303G>C (p.Leu101=) rs376417482
NM_000020.3(ACVRL1):c.393C>T (p.Ala131=)
NM_000020.3(ACVRL1):c.417C>A (p.Gly139=)
NM_000020.3(ACVRL1):c.462C>T (p.His154=)
NM_000020.3(ACVRL1):c.525+10T>C
NM_000020.3(ACVRL1):c.526-10G>A
NM_000020.3(ACVRL1):c.573C>G (p.Pro191=) rs1404977364
NM_000020.3(ACVRL1):c.579G>T (p.Leu193=)
NM_000020.3(ACVRL1):c.626-59del rs864622702
NM_000020.3(ACVRL1):c.699G>A (p.Ser233=)
NM_000020.3(ACVRL1):c.69T>C (p.Pro23=) rs762796409
NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu) rs199542304
NM_000020.3(ACVRL1):c.786A>G (p.Ser262=) rs200320649
NM_000020.3(ACVRL1):c.798C>A (p.Ser266=)
NM_000020.3(ACVRL1):c.807G>A (p.Ser269=)
NM_000020.3(ACVRL1):c.840C>T (p.His280=) rs146188863
NM_000020.3(ACVRL1):c.858C>T (p.Tyr286=) rs542810348
NM_000020.3(ACVRL1):c.888C>G (p.Pro296=) rs776879586
NM_000020.3(ACVRL1):c.918G>C (p.Ala306=) rs1359095143
NM_000020.3(ACVRL1):c.927_928delinsAT (p.Gly309_Leu310=) rs1592224196
NM_000020.3(ACVRL1):c.990C>T (p.Asp330=)
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1008C>T (p.Thr336=) rs766675335
NM_000118.3(ENG):c.1020G>A (p.Pro340=) rs773748110
NM_000118.3(ENG):c.1056G>A (p.Pro352=) rs769530262
NM_000118.3(ENG):c.1095C>T (p.Asp365=) rs142803546
NM_000118.3(ENG):c.1098C>T (p.Asp366=) rs201497772
NM_000118.3(ENG):c.111C>T (p.Pro37=) rs755626994
NM_000118.3(ENG):c.1134+9A>T rs200780733
NM_000118.3(ENG):c.1135-8C>T rs79426098
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
NM_000118.3(ENG):c.1273-4G>A rs373308042
NM_000118.3(ENG):c.1273-5C>T rs779103881
NM_000118.3(ENG):c.1293G>A (p.Ser431=) rs774036076
NM_000118.3(ENG):c.1299A>G (p.Ser433=) rs762387524
NM_000118.3(ENG):c.1302A>G (p.Ser434=) rs1588576596
NM_000118.3(ENG):c.1323C>T (p.His441=) rs751203937
NM_000118.3(ENG):c.1389C>T (p.Ala463=) rs200168633
NM_000118.3(ENG):c.1429-9C>T rs370836025
NM_000118.3(ENG):c.1437G>A (p.Val479=) rs754600063
NM_000118.3(ENG):c.1440C>A (p.Ser480=) rs1588575160
NM_000118.3(ENG):c.1446C>T (p.Ser482=) rs143945873
NM_000118.3(ENG):c.1447G>A (p.Val483Ile) rs141330288
NM_000118.3(ENG):c.150G>A (p.Ser50=) rs377129516
NM_000118.3(ENG):c.1572C>T (p.Pro524=) rs760682477
NM_000118.3(ENG):c.1632C>T (p.Thr544=) rs117510900
NM_000118.3(ENG):c.1671C>T (p.Thr557=) rs369135742
NM_000118.3(ENG):c.1686+6T>G rs369766351
NM_000118.3(ENG):c.1686+8G>C rs372670034
NM_000118.3(ENG):c.1695T>C (p.His565=) rs750637713
NM_000118.3(ENG):c.1698G>A (p.Arg566=) rs1554809103
NM_000118.3(ENG):c.1712G>A (p.Arg571His) rs138799379
NM_000118.3(ENG):c.1741+10C>T rs1554809082
NM_000118.3(ENG):c.1770C>T (p.Pro590=) rs370943570
NM_000118.3(ENG):c.179_180delinsAA (p.Ala60Glu) rs1060504230
NM_000118.3(ENG):c.1806C>T (p.Ile602=) rs373002544
NM_000118.3(ENG):c.1845G>T (p.Ser615=) rs759950184
NM_000118.3(ENG):c.232C>T (p.Leu78=) rs1060504229
NM_000118.3(ENG):c.291G>C (p.Leu97=) rs376641299
NM_000118.3(ENG):c.306C>T (p.Asn102=) rs148098047
NM_000118.3(ENG):c.321G>T (p.Leu107=) rs767907933
NM_000118.3(ENG):c.348G>A (p.Leu116=) rs1205469132
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.393G>A (p.Pro131=) rs760121099
NM_000118.3(ENG):c.405C>G (p.Thr135=) rs773521685
NM_000118.3(ENG):c.456G>A (p.Glu152=) rs1588583553
NM_000118.3(ENG):c.579G>A (p.Thr193=) rs769703434
NM_000118.3(ENG):c.582C>T (p.Leu194=) rs140663846
NM_000118.3(ENG):c.627G>A (p.Leu209=) rs763087751
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.67+7G>A rs1455679426
NM_000118.3(ENG):c.68-9C>G rs200772068
NM_000118.3(ENG):c.684G>A (p.Ser228=) rs368752783
NM_000118.3(ENG):c.690-4G>A rs762621671
NM_000118.3(ENG):c.690-5C>T rs374628465
NM_000118.3(ENG):c.741C>T (p.Leu247=) rs201457707
NM_000118.3(ENG):c.774C>T (p.Tyr258=) rs537154767
NM_000118.3(ENG):c.817-8A>G rs753576292
NM_000118.3(ENG):c.850G>A (p.Glu284Lys) rs372045549
NM_000118.3(ENG):c.900G>A (p.Leu300=) rs140155568
NM_000118.3(ENG):c.954G>A (p.Pro318=) rs149590262
NM_000118.3(ENG):c.975T>G (p.Leu325=) rs776872127
NM_000118.3(ENG):c.992-6C>T rs756890201
NM_000118.3(ENG):c.996T>C (p.Gly332=) rs759964114
NM_000118.3(ENG):c.999G>A (p.Arg333=) rs371174838
NM_001114753.3(ENG):c.1002G>A (p.Leu334=)
NM_001114753.3(ENG):c.1023C>A (p.Ile341=)
NM_001114753.3(ENG):c.1134+92G>A
NM_001114753.3(ENG):c.1200T>C (p.Gly400=)
NM_001114753.3(ENG):c.1203C>T (p.Asp401=)
NM_001114753.3(ENG):c.1272+8C>A
NM_001114753.3(ENG):c.1273-10A>G
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)
NM_001114753.3(ENG):c.1312-10C>T
NM_001114753.3(ENG):c.1312-12G>A
NM_001114753.3(ENG):c.1312-4C>G
NM_001114753.3(ENG):c.1428+8G>A
NM_001114753.3(ENG):c.1429-5T>C
NM_001114753.3(ENG):c.1485G>A (p.Leu495=)
NM_001114753.3(ENG):c.1512G>A (p.Val504=)
NM_001114753.3(ENG):c.1530G>A (p.Arg510=)
NM_001114753.3(ENG):c.1584G>A (p.Pro528=)
NM_001114753.3(ENG):c.1611C>T (p.Tyr537=)
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669
NM_001114753.3(ENG):c.1650G>A (p.Thr550=)
NM_001114753.3(ENG):c.1674G>C (p.Gly558=)
NM_001114753.3(ENG):c.1686+8G>A
NM_001114753.3(ENG):c.1741+79G>A
NM_001114753.3(ENG):c.1742-10C>T
NM_001114753.3(ENG):c.1742-9C>T
NM_001114753.3(ENG):c.1815G>A (p.Leu605=)
NM_001114753.3(ENG):c.1836C>T (p.Tyr612=)
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001114753.3(ENG):c.1851G>A (p.Thr617=)
NM_001114753.3(ENG):c.1852+11C>T
NM_001114753.3(ENG):c.218C>T (p.Thr73Met)
NM_001114753.3(ENG):c.250G>C (p.Ala84Pro)
NM_001114753.3(ENG):c.255C>T (p.Ser85=)
NM_001114753.3(ENG):c.285G>A (p.Val95=)
NM_001114753.3(ENG):c.417A>C (p.Pro139=)
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_001114753.3(ENG):c.606C>T (p.Ala202=)
NM_001114753.3(ENG):c.615G>T (p.Arg205=)
NM_001114753.3(ENG):c.654G>A (p.Ala218=)
NM_001114753.3(ENG):c.654G>C (p.Ala218=)
NM_001114753.3(ENG):c.663G>A (p.Leu221=)
NM_001114753.3(ENG):c.672G>A (p.Leu224=)
NM_001114753.3(ENG):c.705G>A (p.Thr235=)
NM_001114753.3(ENG):c.705G>C (p.Thr235=)
NM_001114753.3(ENG):c.708G>A (p.Val236=)
NM_001114753.3(ENG):c.729A>C (p.Ala243=)
NM_001114753.3(ENG):c.747C>T (p.Ala249=)
NM_001114753.3(ENG):c.753C>T (p.Leu251=)
NM_001114753.3(ENG):c.768C>T (p.Pro256=)
NM_001114753.3(ENG):c.786C>T (p.Leu262=)
NM_001114753.3(ENG):c.792C>T (p.Asp264=)
NM_001114753.3(ENG):c.817-5A>G
NM_001114753.3(ENG):c.819C>T (p.Thr273=)
NM_001114753.3(ENG):c.822T>C (p.Thr274=)
NM_001114753.3(ENG):c.831C>T (p.Tyr277=)
NM_001114753.3(ENG):c.867C>T (p.Gly289=)
NM_001114753.3(ENG):c.942C>T (p.Phe314=)
NM_001114753.3(ENG):c.991+8C>A
NM_001114753.3(ENG):c.992-5C>A
NM_001114753.3(ENG):c.9C>T (p.Arg3=)
NM_002890.3(RASA1):c.1041A>G (p.Glu347=) rs765138678
NM_002890.3(RASA1):c.105G>T (p.Arg35=)
NM_002890.3(RASA1):c.1209A>G (p.Pro403=)
NM_002890.3(RASA1):c.124C>T (p.Leu42=)
NM_002890.3(RASA1):c.1290G>A (p.Gln430=) rs765869491
NM_002890.3(RASA1):c.1308T>C (p.Tyr436=) rs747987480
NM_002890.3(RASA1):c.1347A>G (p.Val449=)
NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe) rs757166432
NM_002890.3(RASA1):c.1380T>C (p.Tyr460=) rs761191995
NM_002890.3(RASA1):c.1444C>T (p.Leu482=)
NM_002890.3(RASA1):c.1584T>C (p.Tyr528=)
NM_002890.3(RASA1):c.1605T>C (p.Phe535=) rs1459643901
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp) rs201502793
NM_002890.3(RASA1):c.1644T>C (p.Phe548=) rs749876769
NM_002890.3(RASA1):c.1722A>G (p.Ala574=) rs200157130
NM_002890.3(RASA1):c.1911A>G (p.Val637=) rs370957991
NM_002890.3(RASA1):c.1938T>C (p.Asp646=) rs549861815
NM_002890.3(RASA1):c.2033G>A (p.Ser678Asn) rs192308897
NM_002890.3(RASA1):c.2052T>C (p.His684=)
NM_002890.3(RASA1):c.2266C>T (p.Leu756=) rs776305383
NM_002890.3(RASA1):c.2316A>G (p.Thr772=)
NM_002890.3(RASA1):c.2345-5T>C
NM_002890.3(RASA1):c.2345-6del rs747443446
NM_002890.3(RASA1):c.2345-9T>C rs1580390526
NM_002890.3(RASA1):c.2434C>T (p.His812Tyr)
NM_002890.3(RASA1):c.2487+13T>A
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033
NM_002890.3(RASA1):c.2622T>C (p.Tyr874=) rs759595320
NM_002890.3(RASA1):c.2691-4T>C rs201365157
NM_002890.3(RASA1):c.2700T>C (p.Val900=)
NM_002890.3(RASA1):c.2724C>T (p.Ala908=)
NM_002890.3(RASA1):c.2766A>T (p.Pro922=) rs137898246
NM_002890.3(RASA1):c.2794T>C (p.Leu932=) rs199733745
NM_002890.3(RASA1):c.2925+9A>T rs1554050607
NM_002890.3(RASA1):c.2926-8C>T rs369251473
NM_002890.3(RASA1):c.3009G>C (p.Val1003=) rs778423443
NM_002890.3(RASA1):c.3060+10C>T rs768479962
NM_002890.3(RASA1):c.3060+9dup rs574384512
NM_002890.3(RASA1):c.3132T>C (p.Asn1044=)
NM_002890.3(RASA1):c.3135T>C (p.Asp1045=) rs1166197926
NM_002890.3(RASA1):c.347T>C (p.Leu116Pro) rs145201086
NM_002890.3(RASA1):c.360C>G (p.Pro120=)
NM_002890.3(RASA1):c.396C>T (p.Gly132=) rs898128418
NM_002890.3(RASA1):c.414C>G (p.Pro138=) rs762661391
NM_002890.3(RASA1):c.522C>T (p.Thr174=)
NM_002890.3(RASA1):c.617T>C (p.Ile206Thr) rs182498192
NM_002890.3(RASA1):c.78C>T (p.Gly26=) rs752084710
NM_016204.4(GDF2):c.1005C>T (p.Asn335=)
NM_016204.4(GDF2):c.1008C>T (p.Phe336=) rs1041318325
NM_016204.4(GDF2):c.1068T>C (p.Cys356=) rs781876898
NM_016204.4(GDF2):c.1098C>T (p.Asp366=) rs781981224
NM_016204.4(GDF2):c.1101T>C (p.Asp367=)
NM_016204.4(GDF2):c.1104G>A (p.Val368=)
NM_016204.4(GDF2):c.1112C>T (p.Thr371Met) rs782198119
NM_016204.4(GDF2):c.1125C>A (p.Ile375=)
NM_016204.4(GDF2):c.1266C>T (p.Ser422=)
NM_016204.4(GDF2):c.126G>A (p.Gly42=)
NM_016204.4(GDF2):c.1281G>T (p.Gly427=) rs781842184
NM_016204.4(GDF2):c.1290G>A (p.Ter430=) rs139568056
NM_016204.4(GDF2):c.18G>A (p.Leu6=)
NM_016204.4(GDF2):c.198C>T (p.Phe66=)
NM_016204.4(GDF2):c.303G>A (p.Ser101=)
NM_016204.4(GDF2):c.315G>A (p.Ala105=)
NM_016204.4(GDF2):c.326T>C (p.Val109Ala) rs782118500
NM_016204.4(GDF2):c.40_48dup (p.Ser14_Leu16dup)
NM_016204.4(GDF2):c.478G>A (p.Val160Met) rs144705412
NM_016204.4(GDF2):c.654C>T (p.Asp218=)
NM_016204.4(GDF2):c.69G>A (p.Lys23=)
NM_016204.4(GDF2):c.711C>T (p.Cys237=) rs146775536
NM_016204.4(GDF2):c.714C>T (p.Asp238=) rs782288867
NM_016204.4(GDF2):c.732C>T (p.Val244=) rs145385373
NM_016204.4(GDF2):c.774C>T (p.Ser258=)
NM_016204.4(GDF2):c.792G>C (p.Gly264=) rs781907754
NM_016204.4(GDF2):c.900C>T (p.His300=)
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)
NM_016204.4(GDF2):c.933G>A (p.Gly311=)
NM_016204.4(GDF2):c.936G>A (p.Ser312=)
NM_016204.4(GDF2):c.963C>A (p.Ala321=) rs370309301
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734

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