ClinVar Miner

List of variants studied for hereditary antithrombin deficiency by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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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.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.1256C>T (p.Ala419Val) rs121909568 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571 0.00001
AT-III Barcelona
AT-III Fontainebleu
AT-III Roma
AT-III Trento
NM_000488.4(SERPINC1):c.1021_1024del (p.Asp341fs) rs121909561
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.116T>A (p.Ile39Asn) rs121909558
NM_000488.4(SERPINC1):c.1205del (p.Lys402fs) rs2102778876
NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr) rs121909557
NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro) rs121909548
NM_000488.4(SERPINC1):c.1271G>A (p.Gly424Asp) rs121909566
NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys) rs121909554
NM_000488.4(SERPINC1):c.1273_1275del (p.Arg425del) rs2102773181
NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His) rs121909549
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.1306G>A (p.Ala436Thr) rs121909546
NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu) rs121909555
NM_000488.4(SERPINC1):c.1373_1381del (p.Val458_Pro461delinsAla) rs2102772927
NM_000488.4(SERPINC1):c.1382C>T (p.Pro461Leu) rs121909564
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys) rs28929469
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser) rs121909547
NM_000488.4(SERPINC1):c.237dup (p.Val80fs) rs2102789885
NM_000488.4(SERPINC1):c.379T>C (p.Cys127Arg) rs121909573
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000488.4(SERPINC1):c.481C>T (p.Arg161Ter) rs121909562
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000488.4(SERPINC1):c.500A>C (p.Asn167Thr) rs121909570
NM_000488.4(SERPINC1):c.667T>C (p.Ser223Pro) rs121909572
NM_000488.4(SERPINC1):c.68T>C (p.Leu23Pro) rs387906575
NM_000488.4(SERPINC1):c.719dup (p.Asn240fs) rs2102784614
NM_000488.4(SERPINC1):c.779dup (p.Phe261fs) rs1572088837
NM_000488.4(SERPINC1):c.830_831del (p.Glu277fs) rs1657694750
NM_000488.4(SERPINC1):c.830del (p.Glu277fs) rs1572088775
NM_000488.4(SERPINC1):c.967_968del (p.Ser323fs) rs121909560

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