ClinVar Miner

List of variants in gene SERPINC1 reported as likely pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala) rs2227606 0.00184
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
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.133C>T (p.Arg45Trp) rs768704768 0.00001
NM_000488.4(SERPINC1):c.382A>T (p.Asn128Tyr) rs1657908048 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro) rs765445413 0.00001
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571 0.00001
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter) rs1657743081 0.00001
NC_000001.11:g.173911749_173917428del
NC_000001.11:g.173916290_173918404del
NC_000001.11:g.173917430G>C
NM_000488.4(SERPINC1):c.1003del (p.Val335fs)
NM_000488.4(SERPINC1):c.1057C>T (p.Pro353Ser) rs2102782517
NM_000488.4(SERPINC1):c.1058C>T (p.Pro353Leu)
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.1153+5G>T rs1572088348
NM_000488.4(SERPINC1):c.1154-14G>A rs542881762
NM_000488.4(SERPINC1):c.1154-50_1218+50del rs1572086894
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr) rs1449772752
NM_000488.4(SERPINC1):c.116T>C (p.Ile39Thr) rs121909558
NM_000488.4(SERPINC1):c.1219-1G>A
NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs)
NM_000488.4(SERPINC1):c.1274G>C (p.Arg425Pro) rs121909549
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) rs121909550
NM_000488.4(SERPINC1):c.1302C>A (p.Phe434Leu)
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr) rs121909546
NM_000488.4(SERPINC1):c.1315C>G (p.Pro439Ala) rs1487411568
NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu) rs121909555
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.166C>T (p.Arg56Cys) rs28929469
NM_000488.4(SERPINC1):c.173dup (p.Glu59fs) rs1572092076
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser) rs121909547
NM_000488.4(SERPINC1):c.272C>T (p.Ala91Val)
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.41+5G>A
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000488.4(SERPINC1):c.452T>A (p.Ile151Asn)
NM_000488.4(SERPINC1):c.473T>C (p.Leu158Pro) rs2102786101
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)
NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser) rs483352847
NM_000488.4(SERPINC1):c.550del (p.Thr185fs) rs1572090173
NM_000488.4(SERPINC1):c.580A>C (p.Ser194Arg)
NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His) rs1572090114
NM_000488.4(SERPINC1):c.614T>C (p.Leu205Pro)
NM_000488.4(SERPINC1):c.624+1G>A rs1572090079
NM_000488.4(SERPINC1):c.641C>A (p.Ser214Tyr) rs483352854
NM_000488.4(SERPINC1):c.679G>A (p.Glu227Lys)
NM_000488.4(SERPINC1):c.679G>T (p.Glu227Ter)
NM_000488.4(SERPINC1):c.749C>T (p.Thr250Ile)
NM_000488.4(SERPINC1):c.771del (p.Leu256_Trp257insTer) rs1572088853
NM_000488.4(SERPINC1):c.801_805del (p.Lys268fs) rs1572088823
NM_000488.4(SERPINC1):c.819G>C (p.Lys273Asn) rs2102783199
NM_000488.4(SERPINC1):c.830del (p.Glu277fs) rs1572088775
NM_000488.4(SERPINC1):c.851T>C (p.Met284Thr)
NM_000488.4(SERPINC1):c.851T>G (p.Met284Arg) rs1572088737
NM_000488.4(SERPINC1):c.938T>C (p.Met313Thr)
NM_000488.4(SERPINC1):c.951G>T (p.Leu317Phe) rs1468108124
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu) rs1460568494
Single allele

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