ClinVar Miner

List of variants reported as likely pathogenic for immunodeficiency due to a late component of complement deficiency

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000065.5(C6):c.821del (p.Gln274fs) rs557023458 0.00131
NM_000587.4(C7):c.405del (p.Asn136fs) rs139491301 0.00088
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_001737.5(C9):c.580C>T (p.Arg194Ter) rs146217095 0.00023
NM_000065.5(C6):c.1786C>T (p.Arg596Ter) rs142881576 0.00013
NM_000587.4(C7):c.1135G>C (p.Gly379Arg) rs121964921 0.00006
NM_001737.5(C9):c.460C>T (p.Arg154Ter) rs144138616 0.00005
NM_001735.3(C5):c.4679-2A>G rs191466386 0.00004
NM_000065.5(C6):c.928-1G>C rs1432520854 0.00001
NM_000562.3(C8A):c.630C>A (p.Tyr210Ter) rs748306602 0.00001
NM_001735.3(C5):c.1407G>A (p.Trp469Ter) rs1408798589 0.00001
NM_001735.3(C5):c.2257+1G>A rs750416999 0.00001
NM_001737.5(C9):c.577del (p.Tyr193fs) rs778518669 0.00001
NM_000065.5(C6):c.1628_1629dup (p.Gln544fs)
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_000065.5(C6):c.2101C>A (p.Arg701=)
NM_000065.5(C6):c.2335_2336del (p.Gln779fs) rs771792933
NM_000065.5(C6):c.2406_2407del (p.Val802_Phe803insTer) rs749432203
NM_000065.5(C6):c.2624-1G>A
NM_000562.3(C8A):c.1152T>A (p.Tyr384Ter)
NM_000587.4(C7):c.*96TCT[1]
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000587.4(C7):c.614G>A (p.Trp205Ter)
NM_001735.3(C5):c.4336del (p.Val1446fs) rs1554718962
NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs) rs1753477155
NM_001737.5(C9):c.1039_1042del (p.Ser347fs) rs1027370764
NM_001737.5(C9):c.1184_1185del (p.Ser395fs) rs752437276
NM_001737.5(C9):c.162C>A (p.Cys54Ter) rs34000044
NM_001737.5(C9):c.184-1G>A

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