ClinVar Miner

List of variants in gene C3 reported by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231 0.00023
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899 0.00004
NM_000064.4(C3):c.322G>A (p.Val108Met) rs747923416 0.00001
NM_000064.4(C3):c.169_170del (p.Val57fs) rs1568229677
NM_000064.4(C3):c.2061dup (p.Lys688fs) rs1599518940
NM_000064.4(C3):c.2531A>G (p.Gln844Arg) rs1599510478
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer) rs1568212112
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499

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