ClinVar Miner

List of variants reported for Complement component 6 deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000065.5(C6):c.1881C>T (p.Asp627=) rs6866352 0.99985
NM_000065.5(C6):c.1189A>G (p.Lys397Glu) rs6896011 0.00878
NM_000065.5(C6):c.2087A>G (p.Asp696Gly) rs41271067 0.00752
NM_000065.5(C6):c.542C>T (p.Thr181Ile) rs114609505 0.00539
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_000065.5(C6):c.1138del (p.Gln380fs) rs375762365 0.00206
NM_000065.5(C6):c.1695C>T (p.Asp565=) rs79523005 0.00189
NM_000065.5(C6):c.821del (p.Gln274fs) rs557023458 0.00131
NM_000065.5(C6):c.933T>C (p.Ser311=) rs75043846 0.00103
NM_000065.5(C6):c.1999G>C (p.Asp667His) rs184169749 0.00048
NM_000065.5(C6):c.143G>A (p.Arg48Lys) rs145422926 0.00021
NM_000065.5(C6):c.1786C>T (p.Arg596Ter) rs142881576 0.00013
NM_000065.5(C6):c.1205T>C (p.Ile402Thr) rs139261476 0.00011
NM_000065.5(C6):c.1219C>T (p.Arg407Cys) rs147449601
NM_000065.5(C6):c.2335_2336del (p.Gln779fs) rs771792933

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