ClinVar Miner

List of variants in gene C5 reported as likely benign for complement deficiency

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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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.1418A>G (p.His473Arg) rs78640581 0.00093
NM_001735.3(C5):c.989T>C (p.Ile330Thr) rs147430470 0.00087
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.4785C>T (p.Asp1595=) rs79033710 0.00042
NM_001735.3(C5):c.1929C>G (p.Ala643=) rs56371452 0.00029
NM_001735.3(C5):c.667+8C>G rs375251377 0.00020
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.423A>G (p.Val141=) rs545714459 0.00011
NM_001735.3(C5):c.2272T>C (p.Leu758=) rs143840189 0.00010
NM_001735.3(C5):c.3659-6G>A rs201384752 0.00009
NM_001735.3(C5):c.928C>T (p.Leu310=) rs375870111 0.00007
NM_001735.3(C5):c.600G>A (p.Thr200=) rs369786622 0.00006
NM_001735.3(C5):c.441G>A (p.Ser147=) rs376535022 0.00004
NM_001735.3(C5):c.1125T>G (p.Val375=) rs778186090 0.00003
NM_001735.3(C5):c.1947T>C (p.Ala649=) rs768999689 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.4162+20C>T rs56094365 0.00002
NM_001735.3(C5):c.1001-6C>T rs577620735 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.2942-16A>T rs1026823552 0.00001
NM_001735.3(C5):c.792C>T (p.Asp264=) rs751759129 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.2563-15_2563-14delinsAT rs2131724100
NM_001735.3(C5):c.3231-4A>C rs777774046
NM_001735.3(C5):c.584+18T>C rs773328492

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