ClinVar Miner

List of variants studied for complement deficiency by OMIM

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) rs1800451 0.08024
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) rs5030737 0.04964
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000065.5(C6):c.1138del (p.Gln380fs) rs375762365 0.00206
NM_000065.5(C6):c.821del (p.Gln274fs) rs557023458 0.00131
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_001735.3(C5):c.55C>T (p.Gln19Ter) rs121909587 0.00043
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_001737.5(C9):c.346C>T (p.Arg116Ter) rs121909592 0.00026
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_001735.3(C5):c.4426C>T (p.Arg1476Ter) rs121909588 0.00018
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00014
NM_000562.3(C8A):c.1270C>T (p.Arg424Ter) rs140856114 0.00014
NM_001737.5(C9):c.355T>G (p.Cys119Gly) rs121909593 0.00013
NM_000066.4(C8B):c.820C>T (p.Arg274Ter) rs140813121 0.00006
NM_000204.5(CFI):c.949C>T (p.Arg317Trp) rs121964917 0.00006
NM_000587.4(C7):c.1135G>C (p.Gly379Arg) rs121964921 0.00006
NM_001928.4(CFD):c.125C>A (p.Ser42Ter) rs104894667 0.00006
NM_001737.5(C9):c.460C>T (p.Arg154Ter) rs144138616 0.00005
NM_172369.5(C1QC):c.100G>A (p.Gly34Arg) rs200206736 0.00005
NM_000587.4(C7):c.63-1G>A rs1022194067 0.00004
NM_001737.5(C9):c.1280C>G (p.Ser427Ter) rs121909594 0.00004
NM_015991.4(C1QA):c.622C>T (p.Gln208Ter) rs121909581 0.00004
NM_172369.5(C1QC):c.490G>A (p.Gly164Ser) rs752596663 0.00004
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter) rs121964913 0.00003
NM_000562.3(C8A):c.171+1G>T rs775967055 0.00002
NM_000186.4(CFH):c.3514G>T (p.Glu1172Ter) rs121913060 0.00001
NM_000204.5(CFI):c.1555G>A (p.Asp519Asn) rs121964918 0.00001
NM_000204.5(CFI):c.728G>A (p.Gly243Asp) rs121964916 0.00001
NM_000361.3(THBD):c.158A>G (p.Asp53Gly) rs121918667 0.00001
NM_001378156.1(C1QB):c.523C>T (p.Arg175Ter) rs751172449 0.00001
NM_001378156.1(C1QB):c.724G>A (p.Gly242Arg) rs34813378 0.00001
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr) rs121909591 0.00001
NM_172351.3(CD46):c.175C>T (p.Arg59Ter) rs121909590 0.00001
NM_172351.3(CD46):c.718T>C (p.Ser240Pro) rs121909589 0.00001
NM_172351.3(CD46):c.98-1G>C rs1441937053 0.00001
NM_172369.5(C1QC):c.205C>T (p.Arg69Ter) rs377549148 0.00001
C7, 11-BP DEL, NT631
C7, EX7-8DEL
NC_000019.10:g.(6695981_6695999)_(6696810_6696831)del
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.2354+1G>A rs112996548
NM_000064.4(C3):c.2562C>G (p.Tyr854Ter) rs121909586
NM_000064.4(C3):c.3281C>T (p.Ala1094Val) rs121909584
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000064.4(C3):c.4631-2A>G rs111595742
NM_000065.5(C6):c.237del (p.Ile80fs) rs398122811
NM_000065.5(C6):c.828del (p.Ser277fs) rs372345940
NM_000066.4(C8B):c.1041_1047dup (p.Leu350fs) rs398122868
NM_000066.4(C8B):c.336del (p.Asn113fs) rs372968576
NM_000066.4(C8B):c.361C>T (p.Arg121Ter) rs150022116
NM_000066.4(C8B):c.605del (p.Pro202fs) rs398122867
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.3566T>G (p.Leu1189Arg) rs121913055
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.4(CFH):c.3592G>T (p.Glu1198Ter) rs121913063
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) rs121913051
NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa) rs796052136
NM_000186.4(CFH):c.83_86del (p.Arg28fs) rs796052137
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) rs758049059
NM_000204.5(CFI):c.1253A>T (p.His418Leu) rs121964912
NM_000204.5(CFI):c.1571A>T (p.Asp524Val) rs121964914
NM_000204.5(CFI):c.1637G>A (p.Trp546Ter) rs121964915
NM_000587.4(C7):c.1314del (p.Lys438fs) rs774370086
NM_000587.4(C7):c.1458T>A (p.Cys486Ter) rs121964922
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000587.4(C7):c.1924_1925del (p.His643fs) rs764871530
NM_000587.4(C7):c.2140_2141del (p.Val714fs) rs1467298230
NM_000587.4(C7):c.2184T>A (p.Cys728Ter) rs387906509
NM_001242823.2(C4B_2):c.3694_3695dup (p.Val1233fs) rs760602547
NM_001378156.1(C1QB):c.181+1G>T rs1361922961
NM_001710.6(CFB):c.858C>G (p.Phe286Leu) rs117905900
NM_001710.6(CFB):c.967A>G (p.Lys323Glu) rs121909748
NM_001734.5(C1S):c.1132_1135del (p.Phe378fs) rs2135727106
NM_001734.5(C1S):c.1567C>T (p.Arg523Ter)
NM_001735.3(C5):c.1115A>G (p.Lys372Arg) rs587776846
NM_001735.3(C5):c.4872_4873delinsG (p.Leu1625fs) rs387906554
NM_001737.5(C9):c.1583G>A (p.Cys528Tyr)
NM_001737.5(C9):c.162C>A (p.Cys54Ter) rs34000044
NM_001928.2(CFD):c.[638T>G;640T>C]
NM_003665.4(FCN3):c.349del (p.Leu117fs) rs532781899
NM_015991.4(C1QA):c.648G>A (p.Trp216Ter) rs34139950
NM_172351.3(CD46):c.800_801del (p.Thr267fs) rs1558056827
NM_172351.3(CD46):c.811_816del (p.Asp271_Ser272del) rs1255421232
NM_172369.5(C1QC):c.213del (p.Gln74fs) rs761681612

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