ClinVar Miner

List of variants studied for immune system disorder by Sydney Genome Diagnostics, Children's Hospital Westmead

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00209
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_000186.4(CFH):c.1825G>A (p.Val609Ile) rs148165372 0.00042
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_000301.5(PLG):c.1735G>A (p.Gly579Arg) rs138728014 0.00027
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_000204.5(CFI):c.1268C>A (p.Ala423Glu) rs555832641 0.00004
NM_000361.3(THBD):c.376G>T (p.Asp126Tyr) rs768667473 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_172351.3(CD46):c.70A>G (p.Met24Val) rs750342865 0.00004
NM_139027.6(ADAMTS13):c.1979G>A (p.Arg660Gln) rs117943654 0.00003
NM_172351.3(CD46):c.565T>G (p.Tyr189Asp) rs202071781 0.00002
NM_000064.4(C3):c.1678G>A (p.Val560Met) rs1015875450 0.00001
NM_000064.4(C3):c.1999G>A (p.Ala667Thr) rs199535288 0.00001
NM_000064.4(C3):c.2642G>A (p.Arg881His) rs1443451793 0.00001
NM_000064.4(C3):c.4348A>C (p.Lys1450Gln) rs191489530 0.00001
NM_000361.3(THBD):c.763G>C (p.Ala255Pro) rs1276712753 0.00001
NM_014140.4(SMARCAL1):c.1975C>T (p.Arg659Cys) rs148893764 0.00001
NM_030787.4(CFHR5):c.707A>G (p.Asp236Gly) rs1283689984 0.00001
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr) rs1918142335
NM_000186.4(CFH):c.1574G>A (p.Trp525Ter) rs1328357943
NM_000186.4(CFH):c.2071T>C (p.Cys691Arg) rs1669151290
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter) rs1652987369
NM_000186.4(CFH):c.3493+2T>C rs1652989506
NM_000186.4(CFH):c.3530A>T (p.Tyr1177Phe) rs1653040477
NM_000186.4(CFH):c.3532A>T (p.Asn1178Tyr) rs1653040605
NM_000186.4(CFH):c.3545G>A (p.Arg1182Lys) rs749403509
NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser) rs1653042358
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) rs121913051
NM_000186.4(CFH):c.3647C>A (p.Thr1216Lys) rs1653050051
NM_000204.5(CFI):c.1006C>T (p.Arg336Ter) rs759676430
NM_000204.5(CFI):c.292A>G (p.Thr98Ala) rs1478686846
NM_003647.3(DGKE):c.1A>T (p.Met1Leu) rs1906465563
NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs) rs1694866812
NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr) rs375508823
NM_172351.3(CD46):c.476-1G>A rs1441390681
NM_172351.3(CD46):c.476-6_476-5delinsG rs1656165500

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.