ClinVar Miner

List of variants studied for urticaria by CeMIA

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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_000062.3(SERPING1):c.1030-20A>G rs2511988 0.60677
NM_000062.3(SERPING1):c.1029+2110T>C rs2454659 0.60589
NM_000062.3(SERPING1):c.551-155A>G rs2936694 0.39893
NM_000062.3(SERPING1):c.52-696C>T rs1005511 0.39698
NM_000062.3(SERPING1):c.1030-865C>T rs2511989 0.39267
NM_000062.3(SERPING1):c.52-130C>T rs1005510 0.38858
NM_000062.3(SERPING1):c.1250-282T>C rs1557522 0.31091
NM_000062.3(SERPING1):c.685+1100C>T rs78364821 0.21309
NM_000062.3(SERPING1):c.1029+1443G>C rs78624400 0.21307
NM_000062.3(SERPING1):c.1029+312T>C rs11603020 0.21296
NM_000062.3(SERPING1):c.1250-538T>C rs10896631 0.21295
NM_000062.3(SERPING1):c.1029+851C>G rs11229066 0.21292
NM_000062.3(SERPING1):c.1030-1222A>G rs3824988 0.21286
NM_000062.3(SERPING1):c.1029+926G>T rs11229067 0.21283
NM_000062.3(SERPING1):c.1029+2111G>A rs138770460 0.21254
NM_000062.3(SERPING1):c.686-1565G>A rs28362950 0.21220
NM_000062.3(SERPING1):c.685+88G>A rs11229063 0.20974
NM_000062.3(SERPING1):c.686-957A>G rs28362951 0.20950
NM_000062.3(SERPING1):c.686-1572G>T rs28362949 0.20898
NM_000062.3(SERPING1):c.551-500C>G rs28362947 0.20877
NM_000062.3(SERPING1):c.51+101G>A rs28362945 0.12487
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_000062.3(SERPING1):c.1030-1975G>C rs151035150 0.01222
NM_000062.3(SERPING1):c.1029+1497A>G rs17661117 0.00675
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00247
NM_000062.3(SERPING1):c.1029+260G>A rs191053716 0.00155
NM_000062.3(SERPING1):c.686-179A>G rs189335964 0.00091
NM_000505.4(F12):c.41T>C (p.Leu14Ser) rs143809932 0.00010
NM_000505.4(F12):c.530C>T (p.Ala177Val) rs144821595 0.00004
NM_000062.3(SERPING1):c.1030-1513del rs1184255008 0.00002
NM_000062.3(SERPING1):c.1250-154C>G rs879810971 0.00001
NM_000062.3(SERPING1):c.686-1335T>A rs1156278971 0.00001
NM_000505.4(F12):c.1599A>G (p.Ser533=) rs1424350386 0.00001
NM_000062.3(SERPING1):c.1030-1198G>T rs2508443
NM_000062.3(SERPING1):c.51+612GT[8] rs3054018
NM_000062.3(SERPING1):c.551-156A>G rs1945351209
NM_000062.3(SERPING1):c.551-495A>C rs28362948
NM_000062.3(SERPING1):c.686-1333A>T rs1945388566
NM_000062.3(SERPING1):c.686-1488_686-1487insT rs1945386835
NM_000062.3(SERPING1):c.890-14C>G rs2135318127
NM_000250.2(MPO):c.-56C>T rs1598044103
NM_000295.5(SERPINA1):c.1070T>C (p.Val357Ala) rs1595598934
NM_000295.5(SERPINA1):c.349C>T (p.His117Tyr) rs1595613479
NM_000301.5(PLG):c.2183T>A (p.Val728Glu) rs1582955358
NM_000312.4(PROC):c.245T>C (p.Phe82Ser) rs1573442078
NM_000505.4(F12):c.1025C>T (p.Pro342Leu) rs2230939
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.983C>A (p.Thr328Lys) rs118204456
NM_000789.4(ACE):c.1473_1475delinsA (p.Asp491fs) rs1599142041
NM_000789.4(ACE):c.1744C>A (p.Gln582Lys) rs1599143221
NM_000930.5(PLAT):c.1323_1325delinsTAT (p.Trp441_Thr442delinsCysMet) rs1587927986
NM_001102416.3(KNG1):c.-85T>A rs1579107719
NM_001102416.3(KNG1):c.421G>A (p.Asp141Asn) rs1579116763
NM_001308.3(CPN1):c.1219G>A (p.Glu407Lys) rs1589470177
NM_001318789.2(TLR2):c.582G>C (p.Leu194Phe) rs1372983603
NM_001379692.1(BDKRB2):c.*21T>A rs1595266840
NM_001648.2(KLK3):c.*4C>T rs1599996938
NM_001648.2(KLK3):c.116dup (p.Val40fs) rs1599990489
NM_001734.5(C1S):c.34T>C (p.Trp12Arg) rs1591575004
NM_001935.4(DPP4):c.571G>T (p.Glu191Ter) rs1576056789
NM_001972.4(ELANE):c.*2A>G rs1599294997
NM_006121.4(KRT1):c.*197T>G rs1592263995
NM_138554.5(TLR4):c.2474G>A (p.Gly825Glu) rs1588095779

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.