ClinVar Miner

List of variants studied for C3 glomerulonephritis

Included ClinVar conditions (1):
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_030787.4(CFHR5):c.-20T>C rs9427662 0.19169
NM_030787.4(CFHR5):c.58+17T>A rs3748557 0.17992
NM_030787.4(CFHR5):c.434G>A (p.Gly145Glu) rs57960694 0.03706
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_030787.4(CFHR5):c.507C>T (p.Asp169=) rs34533956 0.01500
NM_030787.4(CFHR5):c.254-8T>G rs114023763 0.01451
NM_030787.4(CFHR5):c.330A>C (p.Val110=) rs61745675 0.01447
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter) rs143140599 0.00764
NM_030787.4(CFHR5):c.429T>C (p.Thr143=) rs140215003 0.00665
NM_030787.4(CFHR5):c.243G>A (p.Pro81=) rs7532068 0.00444
NM_030787.4(CFHR5):c.1586T>G (p.Leu529Arg) rs16840956 0.00386
NM_030787.4(CFHR5):c.254-5C>T rs185709089 0.00378
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_030787.4(CFHR5):c.465T>C (p.Asn155=) rs139260377 0.00034
NM_030787.4(CFHR5):c.508G>A (p.Val170Met) rs201073457 0.00019
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys) rs201084185 0.00019
NM_030787.4(CFHR5):c.608-3T>A rs375481393 0.00016
NM_030787.4(CFHR5):c.533A>G (p.Asn178Ser) rs200427185 0.00013
NM_030787.4(CFHR5):c.1116C>T (p.Asn372=) rs556270179 0.00009
NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr) rs138834145 0.00009
NM_030787.4(CFHR5):c.1304G>A (p.Arg435Gln) rs776538115 0.00005
NM_030787.4(CFHR5):c.1369A>G (p.Asn457Asp) rs371283133 0.00004
NM_030787.4(CFHR5):c.665T>C (p.Ile222Thr) rs780116839 0.00004
NM_030787.4(CFHR5):c.846G>A (p.Pro282=) rs754917131 0.00004
NM_030787.4(CFHR5):c.329T>C (p.Val110Ala) rs140691305 0.00003
NM_030787.4(CFHR5):c.1155G>T (p.Arg385Ser) rs141358257 0.00001
NM_030787.4(CFHR5):c.583T>A (p.Ser195Thr) rs318240755 0.00001
NM_030787.4(CFHR5):c.826G>A (p.Glu276Lys) rs199531514 0.00001
NM_030787.4(CFHR5):c.1195C>T (p.Gln399Ter) rs772780646
NM_030787.4(CFHR5):c.1225del (p.Asp409fs) rs771972507
NM_030787.4(CFHR5):c.1321C>T (p.Arg441Cys)
NM_030787.4(CFHR5):c.14T>A (p.Phe5Tyr) rs1653431638
NM_030787.4(CFHR5):c.1686_1707del (p.Lys562fs)
NM_030787.4(CFHR5):c.1699A>G (p.Ile567Val)
NM_030787.4(CFHR5):c.178G>C (p.Val60Leu) rs370641856
NM_030787.4(CFHR5):c.1A>G (p.Met1Val) rs1653430949
NM_030787.4(CFHR5):c.206G>A (p.Arg69His) rs375843181
NM_030787.4(CFHR5):c.331C>T (p.Gln111Ter) rs1653615913
NM_030787.4(CFHR5):c.384G>T (p.Ser128=) rs147791058
NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro) rs138529008
NM_030787.4(CFHR5):c.431A>G (p.Lys144Arg)
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs) rs565457964
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_030787.4(CFHR5):c.53dup (p.Glu19fs) rs771671663
NM_030787.4(CFHR5):c.59-1806_430+3225dup
NM_030787.4(CFHR5):c.646_647inv (p.Asn216Phe)
NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile) rs147488267
NM_030787.4(CFHR5):c.678del (p.Glu226fs) rs368209619
NM_030787.4(CFHR5):c.970+2T>G rs550747814
NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter) rs751010317

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