ClinVar Miner

List of variants reported as benign for Hereditary angioedema type 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000505.4(F12):c.619G>C (p.Ala207Pro) rs17876030 0.96534
NM_000505.4(F12):c.-4T>C rs1801020 0.67118
NM_000505.4(F12):c.1019-28T>C rs17876031 0.55815
NM_000505.4(F12):c.711C>T (p.Pro237=) rs17876047 0.02352
NM_000505.4(F12):c.756C>T (p.Ala252=) rs41309752 0.01977
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_000505.4(F12):c.398-12C>T rs56285942 0.00495
NM_000505.4(F12):c.930G>C (p.Arg310Ser) rs77098327 0.00359
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00247
NM_000505.4(F12):c.1018+13G>C rs552424629 0.00239
NM_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00093
NM_000505.4(F12):c.1018+12G>C rs758462343 0.00082
NM_000505.4(F12):c.348C>A (p.Gly116=) rs140243617 0.00081
NM_000505.4(F12):c.120C>T (p.Leu40=) rs149368999 0.00073
NM_000505.4(F12):c.1107G>C (p.Ser369=) rs141473119 0.00063
NM_000505.4(F12):c.530C>T (p.Ala177Val) rs144821595 0.00004
NM_000505.4(F12):c.1704G>A (p.Val568=) rs536390950 0.00003
NM_000505.4(F12):c.1018+11G>T rs570973405
NM_000505.4(F12):c.1018+19del rs35966430
NM_000505.4(F12):c.1025C>T (p.Pro342Leu) rs2230939
NM_000505.4(F12):c.1251-9C>A rs17876032
NM_000505.4(F12):c.1251-9C>T rs17876032

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.