ClinVar Miner

List of variants studied for Complement component 7 deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 16
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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 0.00133
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.1205G>A (p.Arg402Gln) rs753530114 0.00005
NM_000587.4(C7):c.391G>A (p.Asp131Asn) rs755439553 0.00005
NM_000587.4(C7):c.1244A>G (p.Gln415Arg) rs370190257 0.00004
NM_000587.4(C7):c.1136G>C (p.Gly379Ala) rs773461229 0.00002
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000587.4(C7):c.1909_1911dup (p.Met637dup) rs761491305
NM_000587.4(C7):c.1924_1925del (p.His643fs) rs764871530
NM_000587.4(C7):c.633_643del (p.Ser212fs) rs770367814

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