ClinVar Miner

List of variants reported as likely benign for capillary malformation by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP
NM_000020.2(ACVRL1):c.*45del rs761647766
NM_000020.2(ACVRL1):c.*856dup rs544534093
NM_000020.2(ACVRL1):c.-202C>G rs573855752
NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499
NM_000020.3(ACVRL1):c.*1369C>T
NM_000020.3(ACVRL1):c.*46T>G
NM_000020.3(ACVRL1):c.*823C>T
NM_000020.3(ACVRL1):c.*871C>T
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.3(ACVRL1):c.526-11C>T
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=)
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751
NM_000118.3(ENG):c.*368C>T rs539680928
NM_000118.3(ENG):c.*726C>T rs190129922
NM_000118.3(ENG):c.*758A>G rs72616667
NM_000118.3(ENG):c.-158C>T rs41470844
NM_000118.3(ENG):c.-186G>A rs569618819
NM_000118.3(ENG):c.-289A>T rs538284289
NM_000118.3(ENG):c.-343C>T rs543301425
NM_000118.3(ENG):c.1095C>T (p.Asp365=) rs142803546
NM_000118.3(ENG):c.1135-7G>A rs201359896
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1407G>A (p.Pro469=) rs41302657
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.1533G>A (p.Ala511=) rs140760635
NM_000118.3(ENG):c.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.1762G>A (p.Val588Ile) rs201768056
NM_000118.3(ENG):c.225G>A (p.Pro75=) rs116146060
NM_000118.3(ENG):c.291G>C (p.Leu97=) rs376641299
NM_000118.3(ENG):c.524-15C>T rs201463582
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.954G>A (p.Pro318=) rs149590262
NM_001114753.2(ENG):c.*461_*464AACT[1] rs41514846
NM_001114753.3(ENG):c.*449C>G
NM_001114753.3(ENG):c.*492G>A
NM_001114753.3(ENG):c.*558A>G
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.1844C>T (p.Ser615Leu) rs148002300
NM_001114753.3(ENG):c.1853-27C>T
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.572G>A (p.Gly191Asp) rs41322046
NM_002890.3(RASA1):c.*16T>C rs770822619
NM_002890.3(RASA1):c.*375T>C rs116868431
NM_002890.3(RASA1):c.*424G>T rs191725379
NM_002890.3(RASA1):c.*543A>G rs183575968
NM_002890.3(RASA1):c.*733_*735ATT[1] rs374889193
NM_002890.3(RASA1):c.*818T>C rs192141756
NM_002890.3(RASA1):c.*97A>G rs115086172
NM_002890.3(RASA1):c.-128_-126GTT[2] rs371042291
NM_002890.3(RASA1):c.-198G>T rs149279711
NM_002890.3(RASA1):c.1305T>C (p.Tyr435=) rs778801311
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831
NM_002890.3(RASA1):c.1494G>A (p.Glu498=) rs200197533
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693
NM_002890.3(RASA1):c.2259C>T (p.Ala753=) rs552498036
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106
NM_002890.3(RASA1):c.260C>G (p.Thr87Arg) rs553059467
NM_002890.3(RASA1):c.2691-11C>T rs149730288
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) rs769463654
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568
NM_002890.3(RASA1):c.885C>A (p.Asp295Glu)
NM_005359.5(SMAD4):c.*4587_*4590delGAGA rs374333786
NM_005359.5(SMAD4):c.*6586C>T rs534182161
NM_005359.5(SMAD4):c.*6588C>G rs186324049
NM_005359.6(SMAD4):c.*1169_*1173del rs138404813
NM_005359.6(SMAD4):c.*2968del rs574286440
NM_005359.6(SMAD4):c.*3878dup rs373831598
NM_005359.6(SMAD4):c.*4867dup rs571773833
NM_005359.6(SMAD4):c.*6353del rs573785159

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