ClinVar Miner

List of variants studied for complement component 7 deficiency

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000587.4(C7):c.1341G>A (p.Glu447=) rs150696042 0.00183
NM_000587.4(C7):c.1258A>C (p.Lys420Gln) rs3792646 0.00103
NM_000587.4(C7):c.405del (p.Asn136fs) rs139491301 0.00088
NM_000587.4(C7):c.1852C>T (p.Arg618Trp) rs202140226 0.00073
NM_000587.4(C7):c.659G>A (p.Arg220Gln) rs369349760 0.00017
NM_000587.4(C7):c.605A>G (p.Asn202Ser) rs199587630 0.00016
NM_000587.4(C7):c.1451C>T (p.Ala484Val) rs369097905 0.00014
NM_000587.4(C7):c.1135G>C (p.Gly379Arg) rs121964921 0.00006
NM_000587.4(C7):c.1244A>G (p.Gln415Arg) rs370190257 0.00004
NM_000587.4(C7):c.63-1G>A rs1022194067 0.00004
NM_000587.4(C7):c.1411A>T (p.Thr471Ser) rs371379073 0.00003
NM_000587.4(C7):c.281-1G>T rs531103546 0.00001
C7, 11-BP DEL, NT631
C7, EX7-8DEL
NM_000587.4(C7):c.*96TCT[1]
NM_000587.4(C7):c.1314del (p.Lys438fs) rs774370086
NM_000587.4(C7):c.1458T>A (p.Cys486Ter) rs121964922
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000587.4(C7):c.1924_1925del (p.His643fs) rs764871530
NM_000587.4(C7):c.2125C>A (p.Gln709Lys)
NM_000587.4(C7):c.2140_2141del (p.Val714fs) rs1467298230
NM_000587.4(C7):c.2184T>A (p.Cys728Ter) rs387906509
NM_000587.4(C7):c.2350+1del rs779723422
NM_000587.4(C7):c.317del (p.Asp106fs) rs1579848888
NM_000587.4(C7):c.614G>A (p.Trp205Ter)
NM_000587.4(C7):c.633_643del (p.Ser212fs) rs770367814

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