ClinVar Miner

List of variants reported as uncertain significance for congenital plasminogen activator inhibitor type 1 deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000602.5(SERPINE1):c.*1388G>A rs71557295 0.00169
NM_000602.5(SERPINE1):c.-20G>C rs36228265 0.00116
NM_000602.5(SERPINE1):c.*425T>C rs148235544 0.00096
NM_000602.5(SERPINE1):c.*891C>T rs550508703 0.00077
NM_000602.5(SERPINE1):c.1020C>T (p.Val340=) rs201351580 0.00064
NM_000602.5(SERPINE1):c.-54C>T rs760811030 0.00039
NM_000602.5(SERPINE1):c.*617T>A rs186133446 0.00033
NM_000602.5(SERPINE1):c.*1266G>C rs778538888 0.00026
NM_000602.5(SERPINE1):c.456G>C (p.Val152=) rs200318916 0.00025
NM_000602.5(SERPINE1):c.*207C>T rs747135553 0.00022
NM_000602.5(SERPINE1):c.626G>A (p.Arg209His) rs2227669 0.00019
NM_000602.5(SERPINE1):c.*275C>T rs551400163 0.00017
NM_000602.5(SERPINE1):c.*863C>T rs531982874 0.00015
NM_000602.5(SERPINE1):c.*585G>T rs1035342388 0.00011
NM_000602.5(SERPINE1):c.*1295C>T rs372017980 0.00010
NM_000602.5(SERPINE1):c.*1784del rs886061844 0.00009
NM_000602.5(SERPINE1):c.537C>T (p.Ala179=) rs376407844 0.00009
NM_000602.5(SERPINE1):c.*684T>C rs527814575 0.00006
NM_000602.5(SERPINE1):c.-109G>A rs1051051547 0.00005
NM_000602.5(SERPINE1):c.*1296G>A rs903749815 0.00004
NM_000602.5(SERPINE1):c.*294T>G rs534542817 0.00004
NM_000602.5(SERPINE1):c.801G>A (p.Glu267=) rs61749911 0.00004
NM_000602.5(SERPINE1):c.*1437C>A rs1328400454 0.00003
NM_000602.5(SERPINE1):c.191C>T (p.Ser64Leu) rs758271488 0.00003
NM_000602.5(SERPINE1):c.649G>A (p.Gly217Ser) rs766181190 0.00003
NM_000602.5(SERPINE1):c.*1668G>C rs886061843 0.00001
NM_000602.5(SERPINE1):c.*236C>T rs1333856024 0.00001
NM_000602.5(SERPINE1):c.*456G>C rs1334787082 0.00001
NM_000602.5(SERPINE1):c.*478A>C rs540551187 0.00001
NM_000602.5(SERPINE1):c.*533C>T rs1026075364 0.00001
NM_000602.5(SERPINE1):c.*859C>T rs886061837 0.00001
NM_000602.5(SERPINE1):c.1088-11T>C rs1356412166 0.00001
NM_000602.5(SERPINE1):c.989C>T (p.Thr330Met) rs192692662 0.00001
NM_000602.5(SERPINE1):c.*1006T>C rs201434513
NM_000602.5(SERPINE1):c.*1147G>C rs886061838
NM_000602.5(SERPINE1):c.*1155T>C rs886061839
NM_000602.5(SERPINE1):c.*1192G>C rs886061840
NM_000602.5(SERPINE1):c.*1443C>A rs886061841
NM_000602.5(SERPINE1):c.*1545T>C rs1796703744
NM_000602.5(SERPINE1):c.*1590A>G rs886061842
NM_000602.5(SERPINE1):c.*455C>T rs146323865
NM_000602.5(SERPINE1):c.*456G>A rs1334787082
NM_000602.5(SERPINE1):c.*508C>A rs886061836
NM_000602.5(SERPINE1):c.-101G>A rs886061835
NM_000602.5(SERPINE1):c.-93C>T rs556803416
NM_000602.5(SERPINE1):c.149C>G (p.Ser50Cys) rs1412176159
NM_000602.5(SERPINE1):c.700+10A>G rs1796362492
NM_000602.5(SERPINE1):c.845T>G (p.Ile282Ser) rs750289183
NM_000602.5(SERPINE1):c.934C>T (p.Pro312Ser) rs1796546340
NM_000602.5(SERPINE1):c.995T>C (p.Leu332Pro) rs1796549628

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