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Table 2 Variants in the gene SERPING1, detected in the HAEKA study participants as per 07.10.2020

From: HAE patient self-sampling for biomarker establishment

Variant Frequency Literature
c.1450C > T 3 [20]
c.686-3C > G 1 [21]
c.52-1G > A 1 [22]
Heterozygous deletion encompassing exons 3–4 2 [23]
c.550G > A 3 [24]
c.1346 T > G 1 [25]
c.358_377dup 1 [22]
c.551-2A > G 1 [22]
c.896G > A 1 [25]
c.1250-2A > G 2 [22]
c.329_341del 2 [22]
c.1480C > T 3 [26]
Heterozygous deletion encompassing exon 8 2 [22]
c.1250-1G > A 1 [27]
Heterozygous deletion encompassing exons 5–6 1 [28]
Heterozygous deletion encompassing exons 1–6 1 [29]
c.1396C > G 1 [22]
c.1372G > A 1 [30]
c.51 + 3A > G 2 [21]
c.467C > A 1 [22]
c.1397G > A 4 [31]
c.1030-1G > C 1 [26]
c.1408dup 1 [32]
c.1333_1336delACAG 1 [32]
c.1263_1264dup 1 [32]
c.1478G > T 2 [32]
Total 41  
  1. All variants are classified as Class 1—pathogenic and are heterozygous