ClinVar Miner

List of variants in gene SERPING1 reported as likely pathogenic for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000062.3(SERPING1):c.1038_1052del (p.Gln346_Ser350del) rs1590829616
NM_000062.3(SERPING1):c.1100T>G (p.Leu367Arg) rs2135324578
NM_000062.3(SERPING1):c.1104del (p.Asp369fs) rs1590829685
NM_000062.3(SERPING1):c.1192C>G (p.Leu398Val) rs2135324760
NM_000062.3(SERPING1):c.1193T>C (p.Leu398Pro) rs1945480328
NM_000062.3(SERPING1):c.1193T>G (p.Leu398Arg) rs1945480328
NM_000062.3(SERPING1):c.1289T>G (p.Leu430Arg) rs281875174
NM_000062.3(SERPING1):c.1379C>G (p.Ser460Cys) rs2135328051
NM_000062.3(SERPING1):c.1422G>C (p.Gln474His) rs1450674538
NM_000062.3(SERPING1):c.1424A>C (p.Gln475Pro) rs1945516584
NM_000062.3(SERPING1):c.1425G>T (p.Gln475His) rs1945516624
NM_000062.3(SERPING1):c.1475T>C (p.Met492Thr) rs978962357
NM_000062.3(SERPING1):c.491_502del (p.Glu164_Met167del) rs1590822719
NM_000062.3(SERPING1):c.51+1del rs1590821401
NM_000062.3(SERPING1):c.538C>T (p.Gln180Ter) rs2135308831
NM_000062.3(SERPING1):c.708T>G (p.Phe236Leu) rs2135317558
NM_000062.3(SERPING1):c.871A>C (p.Asn291His) rs1057520366
NM_000062.3(SERPING1):c.878T>C (p.Ile293Thr) rs1590826571
NM_000062.3(SERPING1):c.890-14C>G rs2135318127
NM_000062.3(SERPING1):c.9del (p.Arg4fs) rs1945310324

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.