ClinVar Miner

List of variants in gene C5 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001735.3(C5):c.64A>G (p.Thr22Ala) rs564964646 0.00063
NM_001735.3(C5):c.754G>A (p.Ala252Thr) rs112959008 0.00032
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.65C>T (p.Thr22Ile) rs142075999 0.00021
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.1541C>T (p.Thr514Met) rs199664327 0.00010
NM_001735.3(C5):c.3732G>A (p.Thr1244=) rs201280694 0.00010
NM_001735.3(C5):c.1711C>G (p.Leu571Val) rs147226792 0.00009
NM_001735.3(C5):c.3199A>C (p.Ser1067Arg) rs377417930 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.3731C>T (p.Thr1244Met) rs754562499 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.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.1717-5T>C rs779247145 0.00003
NM_001735.3(C5):c.4127G>A (p.Ser1376Asn) rs764508773 0.00003
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.4693A>G (p.Ile1565Val) rs375352964 0.00002
NM_001735.3(C5):c.1358G>A (p.Arg453Gln) rs768081493 0.00001
NM_001735.3(C5):c.1704C>T (p.Gly568=) rs758651657 0.00001
NM_001735.3(C5):c.2543A>G (p.Tyr848Cys) rs1288535384 0.00001
NM_001735.3(C5):c.3853T>C (p.Tyr1285His) rs754685328 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.975T>A (p.Ile325=) rs370834994 0.00001
NM_001735.3(C5):c.1759A>T (p.Thr587Ser) rs2047317447
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.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.813A>G (p.Ile271Met) rs2131788839
NM_001735.3(C5):c.892C>G (p.Gln298Glu) rs149346283

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