List of variants reported as pathogenic for hereditary antithrombin deficiency

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 110

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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.1315C>A (p.Pro439Thr)	rs1487411568	0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)	rs121909567	0.00001
NM_000488.4(SERPINC1):c.436A>G (p.Lys146Glu)	rs1170430756	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
AT-III Barcelona
AT-III Fontainebleu
AT-III Roma
AT-III Trento
Multiple alleles
NC_000001.11:g.(?_173903804)_(173917378_?)del
NC_000001.11:g.172987296_174843232del
NC_000001.11:g.173501975_175305010del
NC_000001.11:g.173686375_176083118del
NC_000001.11:g.173787361_174223422del
NC_000001.11:g.173848142_174816147del
NC_000001.11:g.173850996_173950174del
NC_000001.11:g.173859535_173926473del
NC_000001.11:g.173878539_174421154del
NC_000001.11:g.173879820_173915405del
NC_000001.11:g.173879820_173925989del
NC_000001.11:g.173881395_174342043del
NC_000001.11:g.173884504_174418717del
NC_000001.11:g.173888460_174138926del
NC_000001.11:g.173888461_173971254del
NC_000001.11:g.173896668_173942868del
NC_000001.11:g.173905922_173905923ins[NC_000006.11:56893618_56896059]
NC_000001.11:g.173908412_173919816dup
NC_000001.11:g.173908511_174102900del
NC_000001.11:g.173912160_174154195del
NC_000001.11:g.173914640_173922032del
NC_000001.11:g.173916704_173935703del
NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter)
NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter)	rs483352856
NM_000488.4(SERPINC1):c.1021_1024del (p.Asp341fs)	rs121909561
NM_000488.4(SERPINC1):c.1060del (p.Arg354fs)	rs863224495
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro)	rs121909565
NM_000488.4(SERPINC1):c.1154-14G>A	rs542881762
NM_000488.4(SERPINC1):c.1154-324_1218+475dup	rs2102778169
NM_000488.4(SERPINC1):c.1154-40_1218+127dup	rs2102778641
NM_000488.4(SERPINC1):c.1154-898_1218+410del
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr)	rs1449772752
NM_000488.4(SERPINC1):c.1169dup (p.Arg391fs)
NM_000488.4(SERPINC1):c.116T>A (p.Ile39Asn)	rs121909558
NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter)
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter)	rs2102778910
NM_000488.4(SERPINC1):c.1205del (p.Lys402fs)	rs2102778876
NM_000488.4(SERPINC1):c.1207del (p.Ala403fs)
NM_000488.4(SERPINC1):c.1219-2A>G	rs2102773374
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.1311C>G (p.Asn437Lys)
NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu)	rs121909555
NM_000488.4(SERPINC1):c.1358T>C (p.Ile453Thr)
NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)
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.205G>T (p.Glu69Ter)
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser)	rs121909547
NM_000488.4(SERPINC1):c.237dup (p.Val80fs)	rs2102789885
NM_000488.4(SERPINC1):c.243G>A (p.Trp81Ter)
NM_000488.4(SERPINC1):c.266_318del (p.Arg89fs)
NM_000488.4(SERPINC1):c.280_283del (p.Phe94fs)
NM_000488.4(SERPINC1):c.28dup (p.Thr10fs)
NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn)	rs1657909645
NM_000488.4(SERPINC1):c.374G>A (p.Gly125Asp)
NM_000488.4(SERPINC1):c.379T>C (p.Cys127Arg)	rs121909573
NM_000488.4(SERPINC1):c.381T>A (p.Cys127Ter)	rs2102789590
NM_000488.4(SERPINC1):c.408+948_763-386del
NM_000488.4(SERPINC1):c.409-1G>C
NM_000488.4(SERPINC1):c.409-1G>T
NM_000488.4(SERPINC1):c.41+297_55del
NM_000488.4(SERPINC1):c.415_420del (p.Lys139_Phe140del)	rs1572090368
NM_000488.4(SERPINC1):c.42-486_1154-846del
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro)	rs121909569
NM_000488.4(SERPINC1):c.448dup (p.Gln150fs)	rs1572090305
NM_000488.4(SERPINC1):c.456CTT[2] (p.Phe155del)	rs786204063
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.490C>T (p.Arg164Ter)
NM_000488.4(SERPINC1):c.500A>C (p.Asn167Thr)	rs121909570
NM_000488.4(SERPINC1):c.607C>T (p.Gln203Ter)	rs2102785788
NM_000488.4(SERPINC1):c.624+1G>A	rs1572090079
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.763-379_1084del	rs2102782435
NM_000488.4(SERPINC1):c.766del (p.Leu256fs)	rs1572088865
NM_000488.4(SERPINC1):c.778A>T (p.Lys260Ter)
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.84_409-536del
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu)	rs1460568494
NM_000488.4(SERPINC1):c.967_968del (p.Ser323fs)	rs121909560
NM_000488.4(SERPINC1):c.98dup (p.His33fs)

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