ClinVar Miner

List of variants reported as pathogenic for hereditary antithrombin deficiency by Invitae

Included ClinVar conditions (1):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
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
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter) rs1657743081 0.00001
NC_000001.11:g.(?_173903804)_(173917378_?)del
NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter)
NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter) rs483352856
NM_000488.4(SERPINC1):c.1060del (p.Arg354fs) rs863224495
NM_000488.4(SERPINC1):c.1154-14G>A rs542881762
NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter)
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter) rs2102778910
NM_000488.4(SERPINC1):c.1207del (p.Ala403fs)
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.1273C>T (p.Arg425Cys) rs121909554
NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His) rs121909549
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr) rs121909546
NM_000488.4(SERPINC1):c.1311C>G (p.Asn437Lys)
NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)
NM_000488.4(SERPINC1):c.205G>T (p.Glu69Ter)
NM_000488.4(SERPINC1):c.243G>A (p.Trp81Ter)
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.381T>A (p.Cys127Ter) rs2102789590
NM_000488.4(SERPINC1):c.409-1G>C
NM_000488.4(SERPINC1):c.409-1G>T
NM_000488.4(SERPINC1):c.415_420del (p.Lys139_Phe140del) rs1572090368
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.490C>T (p.Arg164Ter)
NM_000488.4(SERPINC1):c.607C>T (p.Gln203Ter) rs2102785788
NM_000488.4(SERPINC1):c.766del (p.Leu256fs) rs1572088865
NM_000488.4(SERPINC1):c.830_831del (p.Glu277fs) rs1657694750
NM_000488.4(SERPINC1):c.98dup (p.His33fs)

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