ClinVar Miner

List of variants reported as pathogenic by Department of Immunology and Histocompatibility, University of Thessaly

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000062.3(SERPING1):c.-22-155G>T rs1945307391
NM_000062.3(SERPING1):c.1012C>T (p.Gln338Ter) rs1565171906
NM_000062.3(SERPING1):c.1029+384A>G rs1945416520
NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter) rs1590829609
NM_000062.3(SERPING1):c.106_107del (p.Ser36fs) rs1590822296
NM_000062.3(SERPING1):c.1106del (p.Asp369fs) rs1565173309
NM_000062.3(SERPING1):c.1180del (p.Thr394fs) rs1590829763
NM_000062.3(SERPING1):c.1247T>A (p.Leu416Ter) rs1565173405
NM_000062.3(SERPING1):c.1342_1349dup (p.Thr450_Glu451insAsnTer) rs1590831385
NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs) rs1554996833
NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val) rs1590831432
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys) rs28940870
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000062.3(SERPING1):c.1417G>A (p.Val473Met) rs956390201
NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter) rs1565174105
NM_000062.3(SERPING1):c.1446G>A (p.Trp482Ter) rs1590831545
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter) rs922149386
NM_000062.3(SERPING1):c.1A>C (p.Met1Leu) rs1565168898
NM_000062.3(SERPING1):c.1A>G (p.Met1Val) rs1565168898
NM_000062.3(SERPING1):c.342_345del (p.Thr115fs) rs1565169621
NM_000062.3(SERPING1):c.347del (p.Gln116fs) rs1590822588
NM_000062.3(SERPING1):c.508del (p.Ser170fs) rs1590822739
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.3(SERPING1):c.55A>T (p.Arg19Ter) rs1565169419
NM_000062.3(SERPING1):c.586_589del (p.Ile196fs) rs1565170287
NM_000062.3(SERPING1):c.600dup (p.Lys201fs) rs1590823884
NM_000062.3(SERPING1):c.674_675delinsAA (p.Phe225Ter) rs1565170364
NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser) rs1590826703

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