ClinVar Miner

List of variants in gene SERPINC1 reported by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr) rs1487411568 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NC_000001.11:g.173911749_173917428del
NC_000001.11:g.173916290_173918404del
NM_000488.4(SERPINC1):c.1154-14G>A rs542881762
NM_000488.4(SERPINC1):c.1154-50_1218+50del rs1572086894
NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys) rs1572084546
NM_000488.4(SERPINC1):c.1315C>T (p.Pro439Ser) rs1487411568
NM_000488.4(SERPINC1):c.1376C>A (p.Ala459Asp) rs1572084448
NM_000488.4(SERPINC1):c.1393T>C (p.Ter465Gln) rs1572084425
NM_000488.4(SERPINC1):c.155del (p.Met52fs) rs1572092103
NM_000488.4(SERPINC1):c.159C>A (p.Cys53Ter) rs1572092099
NM_000488.4(SERPINC1):c.173dup (p.Glu59fs) rs1572092076
NM_000488.4(SERPINC1):c.322_327del (p.Ile108_Phe109del) rs1572091831
NM_000488.4(SERPINC1):c.400del (p.Gln133_Leu134insTer) rs1572091783
NM_000488.4(SERPINC1):c.550del (p.Thr185fs) rs1572090173
NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His) rs1572090114
NM_000488.4(SERPINC1):c.771del (p.Leu256_Trp257insTer) rs1572088853
NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys) rs1572088824
NM_000488.4(SERPINC1):c.801_805del (p.Lys268fs) rs1572088823
NM_000488.4(SERPINC1):c.830del (p.Glu277fs) rs1572088775
NM_000488.4(SERPINC1):c.851T>A (p.Met284Lys) rs1572088737
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu) rs1460568494
Single allele

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