ClinVar Miner

List of variants reported as uncertain significance for angioedema

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001146.5(ANGPT1):c.1151G>A (p.Arg384Gln) rs146465357 0.00109
NM_000062.3(SERPING1):c.5C>T (p.Ala2Val) rs185342631 0.00094
NM_001146.5(ANGPT1):c.1110G>C (p.Gln370His) rs200226727 0.00046
NM_000301.5(PLG):c.514A>G (p.Arg172Gly) rs145535174 0.00039
NM_000062.3(SERPING1):c.-36A>T rs761350979 0.00032
NM_000301.5(PLG):c.1735G>A (p.Gly579Arg) rs138728014 0.00027
NM_000062.3(SERPING1):c.*66T>C rs899262177 0.00024
NM_000301.5(PLG):c.2134G>A (p.Gly712Arg) rs202074006 0.00022
NM_000301.5(PLG):c.317G>C (p.Gly106Ala) rs778599053 0.00016
NM_000062.2(SERPING1):c.-99C>G rs866115469 0.00010
NM_000301.5(PLG):c.1997T>C (p.Ile666Thr) rs764647453 0.00010
NM_000062.3(SERPING1):c.997G>A (p.Ala333Thr) rs202192543 0.00009
NM_000301.5(PLG):c.505C>A (p.Pro169Thr) rs143256245 0.00009
NM_000301.5(PLG):c.115A>C (p.Lys39Gln) rs138353396 0.00008
NM_000301.5(PLG):c.669-3C>G rs368764348 0.00007
NM_000301.5(PLG):c.646G>A (p.Ala216Thr) rs374234922 0.00006
NM_000505.4(F12):c.1212C>G (p.Pro404=) rs756802257 0.00005
NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu) rs11229062 0.00004
NM_000301.5(PLG):c.368C>T (p.Thr123Ile) rs370856655 0.00004
NM_000301.5(PLG):c.1394C>T (p.Pro465Leu) rs374995543 0.00003
NM_000505.4(F12):c.1018+14G>T rs779057710 0.00003
NM_000505.4(F12):c.1251-12C>A rs747726864 0.00003
NM_000505.4(F12):c.630C>T (p.Asp210=) rs886060471 0.00003
NM_000505.4(F12):c.928A>T (p.Arg310Trp) rs749549919 0.00003
NM_000062.3(SERPING1):c.227C>T (p.Thr76Ile) rs182779591 0.00002
NM_000062.3(SERPING1):c.981C>T (p.Ser327=) rs1433680488 0.00002
NM_000301.5(PLG):c.17T>C (p.Val6Ala) rs764121149 0.00002
NM_000062.2(SERPING1):c.-94C>G rs1190911080 0.00001
NM_000062.3(SERPING1):c.100C>A (p.Pro34Thr) rs781444611 0.00001
NM_000062.3(SERPING1):c.135C>T (p.Val45=) rs886048399 0.00001
NM_000062.3(SERPING1):c.285C>A (p.Thr95=) rs886048400 0.00001
NM_000062.3(SERPING1):c.330A>G (p.Pro110=) rs1371887844 0.00001
NM_000062.3(SERPING1):c.721C>T (p.Arg241Trp) rs145436911 0.00001
NM_000505.4(F12):c.*86C>T rs777897437 0.00001
NM_000505.4(F12):c.*9G>A rs1763150862 0.00001
NM_000505.4(F12):c.158A>G (p.Tyr53Cys) rs118204455 0.00001
NM_000505.4(F12):c.1599A>G (p.Ser533=) rs1424350386 0.00001
NM_000505.4(F12):c.30G>A (p.Leu10=) rs745617919 0.00001
NM_000062.2(SERPING1):c.-100C>G rs578018379
NM_000062.2(SERPING1):c.-105C>A rs886048397
NM_000062.3(SERPING1):c.-56T>G rs886048398
NM_000062.3(SERPING1):c.1147A>G (p.Met383Val) rs746382640
NM_000062.3(SERPING1):c.1249+5G>C rs1590829846
NM_000062.3(SERPING1):c.1324C>G (p.Gln442Glu) rs1590831346
NM_000062.3(SERPING1):c.1409T>A (p.Val470Asp) rs1590831488
NM_000062.3(SERPING1):c.239C>G (p.Ala80Gly) rs774944411
NM_000062.3(SERPING1):c.293C>T (p.Pro98Leu) rs1945331471
NM_000062.3(SERPING1):c.369C>G (p.Cys123Trp) rs1465637711
NM_000062.3(SERPING1):c.497A>C (p.Asn166Thr) rs1945333871
NM_000062.3(SERPING1):c.587T>A (p.Ile196Asn) rs1554995255
NM_000062.3(SERPING1):c.856C>G (p.Arg286Gly) rs1392305191
NM_000062.3(SERPING1):c.872A>G (p.Asn291Ser) rs754401203
NM_000301.5(PLG):c.1329C>A (p.Ser443Arg) rs756670030
NM_000301.5(PLG):c.1657G>A (p.Asp553Asn) rs182937977
NM_000301.5(PLG):c.185+14C>A rs369616302
NM_000301.5(PLG):c.266G>C (p.Arg89Thr) rs143079629
NM_000301.5(PLG):c.466G>A (p.Asp156Asn) rs756533019
NM_000301.5(PLG):c.745G>A (p.Asp249Asn) rs532027310
NM_000301.5(PLG):c.814A>G (p.Thr272Ala) rs754598185
NM_000301.5(PLG):c.848A>G (p.Tyr283Cys) rs2115163630
NM_000505.4(F12):c.-25G>A rs886060472
NM_000505.4(F12):c.1142G>A (p.Arg381His) rs1763214147
NM_000505.4(F12):c.1530G>C (p.Glu510Asp) rs1763185944
NM_000505.4(F12):c.1768T>G (p.Cys590Gly) rs1157280571
NM_000505.4(F12):c.286+6A>G rs1763273226
NM_000505.4(F12):c.957G>C (p.Gln319His) rs1763225226
NM_001009606.4(HS3ST6):c.946C>G (p.Leu316Val)
NM_001102416.3(KNG1):c.166T>G (p.Leu56Val)
NM_206927.4(SYTL2):c.893del (p.Ser298fs) rs1057519445

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.