ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Genome Diagnostics Laboratory, The Hospital for Sick Children

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540 0.00198
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_000064.4(C3):c.26T>C (p.Leu9Pro) rs138214338 0.00053
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu) rs62625015 0.00025
NM_000186.4(CFH):c.1949G>T (p.Gly650Val) rs143237092 0.00021
NM_001710.6(CFB):c.221G>A (p.Arg74His) rs117314762 0.00019
NM_000186.4(CFH):c.2675C>T (p.Ala892Val) rs151068461 0.00017
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 0.00014
NM_000204.5(CFI):c.338G>A (p.Ser113Asn) rs150610189 0.00012
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) rs117872197 0.00011
NM_000064.4(C3):c.987C>T (p.Thr329=) rs748313429 0.00009
NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr) rs138834145 0.00009
NM_000204.5(CFI):c.193T>C (p.Tyr65His) rs774783110 0.00008
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) rs774826179 0.00002
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
NM_000204.5(CFI):c.1063G>A (p.Val355Met) rs1250103299 0.00002
NM_000064.4(C3):c.28C>A (p.Leu10Met) rs756577495 0.00001
NM_000064.4(C3):c.3401G>A (p.Arg1134Gln) rs777904423 0.00001
NM_000186.4(CFH):c.524G>C (p.Arg175Pro) rs139360826 0.00001
NM_000204.5(CFI):c.377T>C (p.Ile126Thr) rs778891732 0.00001
NM_001710.6(CFB):c.507C>T (p.Gly169=) rs990116233 0.00001
NM_000064.4(C3):c.1269+4C>A
NM_000064.4(C3):c.1962C>T (p.Thr654=)
NM_000064.4(C3):c.2485TTC[1] (p.Phe830del)
NM_000064.4(C3):c.268-4C>T
NM_000064.4(C3):c.522G>A (p.Pro174=)
NM_000064.4(C3):c.683-4C>G rs377240996
NM_000186.4(CFH):c.2089C>T (p.Leu697Phe)
NM_000204.5(CFI):c.11T>A (p.Leu4His)
NM_000204.5(CFI):c.1289T>C (p.Ile430Thr)
NM_000361.3(THBD):c.563C>G (p.Ala188Gly)
NM_001710.6(CFB):c.978A>G (p.Glu326=)
NM_001710.6(CFB):c.981A>T (p.Ala327=)
NM_003647.3(DGKE):c.1206TAA[1] (p.Asn403del)
NM_003647.3(DGKE):c.999G>A (p.Ala333=)
NM_030787.4(CFHR5):c.1106T>G (p.Val369Gly)
NM_030787.4(CFHR5):c.1214T>A (p.Val405Glu)
NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile) rs147488267
NM_153704.6(TMEM67):c.333C>T (p.Gly111=)
NM_172351.3(CD46):c.191G>T (p.Cys64Phe) rs1655633353

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