ClinVar Miner

List of variants studied for Complement component 5 deficiency; Eculizumab, poor response to by Fulgent Genetics, Fulgent Genetics

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Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_001735.3(C5):c.3098T>C (p.Ile1033Thr) rs41311881 0.00529
NM_001735.3(C5):c.3033G>C (p.Glu1011Asp) rs150096192 0.00349
NM_001735.3(C5):c.2059+16T>A rs199849879 0.00171
NM_001735.3(C5):c.921C>G (p.Val307=) rs62640871 0.00148
NM_001735.3(C5):c.3303T>C (p.Cys1101=) rs145979468 0.00142
NM_001735.3(C5):c.4762+14C>T rs372929361 0.00108
NM_001735.3(C5):c.5031A>G (p.Ter1677=) rs140229894 0.00105
NM_001735.3(C5):c.1418A>G (p.His473Arg) rs78640581 0.00093
NM_001735.3(C5):c.306G>A (p.Val102=) rs151322743 0.00082
NM_001735.3(C5):c.450C>T (p.Asp150=) rs141829974 0.00081
NM_001735.3(C5):c.267A>C (p.Pro89=) rs758128814 0.00069
NM_001735.3(C5):c.3230+17G>C rs374404058 0.00060
NM_001735.3(C5):c.4899C>T (p.Phe1633=) rs149147126 0.00047
NM_001735.3(C5):c.55C>T (p.Gln19Ter) rs121909587 0.00043
NM_001735.3(C5):c.4785C>T (p.Asp1595=) rs79033710 0.00042
NM_001735.3(C5):c.1929C>G (p.Ala643=) rs56371452 0.00029
NM_001735.3(C5):c.2059+3A>G rs374867185 0.00021
NM_001735.3(C5):c.4321G>T (p.Ala1441Ser) rs143886761 0.00021
NM_001735.3(C5):c.667+8C>G rs375251377 0.00020
NM_001735.3(C5):c.4426C>T (p.Arg1476Ter) rs121909588 0.00018
NM_001735.3(C5):c.4018-18T>A rs762212329 0.00016
NM_001735.3(C5):c.4713A>G (p.Glu1571=) rs141660654 0.00016
NM_001735.3(C5):c.2715T>C (p.Ile905=) rs139794186 0.00014
NM_001735.3(C5):c.4504+4A>G rs137867011 0.00014
NM_001735.3(C5):c.4016A>G (p.Glu1339Gly) rs569871287 0.00013
NM_001735.3(C5):c.1424C>T (p.Ala475Val) rs151271738 0.00012
NM_001735.3(C5):c.2420C>T (p.Thr807Ile) rs372326645 0.00011
NM_001735.3(C5):c.3059A>G (p.Tyr1020Cys) rs768907431 0.00011
NM_001735.3(C5):c.423A>G (p.Val141=) rs545714459 0.00011
NM_001735.3(C5):c.1541C>T (p.Thr514Met) rs199664327 0.00010
NM_001735.3(C5):c.2272T>C (p.Leu758=) rs143840189 0.00010
NM_001735.3(C5):c.3732G>A (p.Thr1244=) rs201280694 0.00010
NM_001735.3(C5):c.5011A>G (p.Ile1671Val) rs374914766 0.00010
NM_001735.3(C5):c.3199A>C (p.Ser1067Arg) rs377417930 0.00009
NM_001735.3(C5):c.3659-6G>A rs201384752 0.00009
NM_001735.3(C5):c.4924T>G (p.Leu1642Val) rs762245967 0.00009
NM_001735.3(C5):c.2653C>T (p.Arg885Cys) rs373359894 0.00008
NM_001735.3(C5):c.5005G>A (p.Glu1669Lys) rs758052311 0.00008
NM_001735.3(C5):c.3731C>T (p.Thr1244Met) rs754562499 0.00007
NM_001735.3(C5):c.928C>T (p.Leu310=) rs375870111 0.00007
NM_001735.3(C5):c.1481A>G (p.Asp494Gly) rs373646644 0.00006
NM_001735.3(C5):c.2033C>T (p.Thr678Met) rs138509814 0.00006
NM_001735.3(C5):c.3068A>G (p.His1023Arg) rs760863207 0.00006
NM_001735.3(C5):c.4654G>A (p.Ala1552Thr) rs147051026 0.00006
NM_001735.3(C5):c.600G>A (p.Thr200=) rs369786622 0.00006
NM_001735.3(C5):c.95G>A (p.Arg32His) rs144876205 0.00006
NM_001735.3(C5):c.2686G>T (p.Val896Leu) rs370940275 0.00005
NM_001735.3(C5):c.407C>A (p.Thr136Asn) rs776192715 0.00005
NM_001735.3(C5):c.4205T>C (p.Ile1402Thr) rs371503868 0.00005
NM_001735.3(C5):c.116T>C (p.Ile39Thr) rs1228951703 0.00004
NM_001735.3(C5):c.1816G>A (p.Asp606Asn) rs775286780 0.00004
NM_001735.3(C5):c.3277G>A (p.Val1093Ile) rs371131390 0.00004
NM_001735.3(C5):c.441G>A (p.Ser147=) rs376535022 0.00004
NM_001735.3(C5):c.4679-2A>G rs191466386 0.00004
NM_001735.3(C5):c.1125T>G (p.Val375=) rs778186090 0.00003
NM_001735.3(C5):c.1717-5T>C rs779247145 0.00003
NM_001735.3(C5):c.1947T>C (p.Ala649=) rs768999689 0.00003
NM_001735.3(C5):c.4127G>A (p.Ser1376Asn) rs764508773 0.00003
NM_001735.3(C5):c.435T>A (p.Val145=) rs760334587 0.00003
NM_001735.3(C5):c.1716+7C>G rs764673418 0.00002
NM_001735.3(C5):c.2177A>G (p.Lys726Arg) rs369235335 0.00002
NM_001735.3(C5):c.2206A>G (p.Ser736Gly) rs778780304 0.00002
NM_001735.3(C5):c.2491T>C (p.Tyr831His) rs1352441352 0.00002
NM_001735.3(C5):c.314A>C (p.Glu105Ala) rs754822238 0.00002
NM_001735.3(C5):c.3413G>A (p.Arg1138Gln) rs779879112 0.00002
NM_001735.3(C5):c.4162+20C>T rs56094365 0.00002
NM_001735.3(C5):c.4693A>G (p.Ile1565Val) rs375352964 0.00002
NM_001735.3(C5):c.1001-6C>T rs577620735 0.00001
NM_001735.3(C5):c.1358G>A (p.Arg453Gln) rs768081493 0.00001
NM_001735.3(C5):c.1407G>A (p.Trp469Ter) rs1408798589 0.00001
NM_001735.3(C5):c.1704C>T (p.Gly568=) rs758651657 0.00001
NM_001735.3(C5):c.1866+12C>A rs113503759 0.00001
NM_001735.3(C5):c.2037G>A (p.Leu679=) rs2047296479 0.00001
NM_001735.3(C5):c.2059+10G>A rs371850097 0.00001
NM_001735.3(C5):c.2257+1G>A rs750416999 0.00001
NM_001735.3(C5):c.2543A>G (p.Tyr848Cys) rs1288535384 0.00001
NM_001735.3(C5):c.2942-16A>T rs1026823552 0.00001
NM_001735.3(C5):c.4081-6A>G rs563554052 0.00001
NM_001735.3(C5):c.4247C>T (p.Ser1416Leu) rs148636828 0.00001
NM_001735.3(C5):c.4489G>A (p.Glu1497Lys) rs376245744 0.00001
NM_001735.3(C5):c.572C>T (p.Pro191Leu) rs200524363 0.00001
NM_001735.3(C5):c.691A>G (p.Ile231Val) rs753870842 0.00001
NM_001735.3(C5):c.698C>T (p.Pro233Leu) rs531284110 0.00001
NM_001735.3(C5):c.792C>T (p.Asp264=) rs751759129 0.00001
NM_001735.3(C5):c.975T>A (p.Ile325=) rs370834994 0.00001
NM_001735.3(C5):c.1287G>A (p.Thr429=) rs145139701
NM_001735.3(C5):c.1506+17G>T rs182918168
NM_001735.3(C5):c.1759A>T (p.Thr587Ser) rs2047317447
NM_001735.3(C5):c.2563-15_2563-14delinsAT rs2131724100
NM_001735.3(C5):c.2627A>G (p.Gln876Arg) rs2047128695
NM_001735.3(C5):c.2827A>G (p.Thr943Ala) rs2047115852
NM_001735.3(C5):c.3231-4A>C rs777774046
NM_001735.3(C5):c.3676C>T (p.Arg1226Cys) rs537101618
NM_001735.3(C5):c.4143C>A (p.Ile1381=) rs150804933
NM_001735.3(C5):c.4652C>T (p.Thr1551Ile) rs138510251
NM_001735.3(C5):c.4932G>C (p.Trp1644Cys) rs2131656978
NM_001735.3(C5):c.584+18T>C rs773328492
NM_001735.3(C5):c.813A>G (p.Ile271Met) rs2131788839
NM_001735.3(C5):c.892C>G (p.Gln298Glu) rs149346283

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