ClinVar Miner

List of variants reported as uncertain significance for hereditary antithrombin deficiency by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.1265T>C (p.Ile422Thr) rs772809607 0.00021
NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala) rs531137446 0.00008
NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro) rs372820797 0.00005
NM_000488.4(SERPINC1):c.995C>T (p.Thr332Ile) rs567550044 0.00005
NM_000488.4(SERPINC1):c.872G>A (p.Arg291His) rs377588972 0.00004
NM_000488.4(SERPINC1):c.871C>T (p.Arg291Cys) rs764695432 0.00002
NM_000488.4(SERPINC1):c.1060C>T (p.Arg354Cys) rs765761813 0.00001
NM_000488.4(SERPINC1):c.31T>A (p.Ser11Thr) rs1445653081 0.00001
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro) rs765445413 0.00001
NM_000488.4(SERPINC1):c.530G>A (p.Arg177His) rs878854020 0.00001
NM_000488.4(SERPINC1):c.716T>C (p.Ile239Thr) rs749510661 0.00001
NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys) rs758087836 0.00001
NM_000488.4(SERPINC1):c.946A>T (p.Ile316Phe) rs1657686098 0.00001
NM_000488.4(SERPINC1):c.1000G>A (p.Glu334Lys)
NM_000488.4(SERPINC1):c.1007T>C (p.Leu336Pro)
NM_000488.4(SERPINC1):c.1051C>T (p.His351Tyr)
NM_000488.4(SERPINC1):c.1078G>A (p.Gly360Ser)
NM_000488.4(SERPINC1):c.1099C>G (p.Leu367Val) rs1657673747
NM_000488.4(SERPINC1):c.1106A>G (p.Asp369Gly)
NM_000488.4(SERPINC1):c.1110G>A (p.Met370Ile)
NM_000488.4(SERPINC1):c.1123C>A (p.Leu375Met)
NM_000488.4(SERPINC1):c.1154G>A (p.Gly385Asp) rs878854018
NM_000488.4(SERPINC1):c.1204A>G (p.Lys402Glu)
NM_000488.4(SERPINC1):c.1206G>C (p.Lys402Asn) rs920003404
NM_000488.4(SERPINC1):c.1207G>T (p.Ala403Ser)
NM_000488.4(SERPINC1):c.1235G>A (p.Ser412Asn)
NM_000488.4(SERPINC1):c.1267G>A (p.Ala423Thr) rs1008874845
NM_000488.4(SERPINC1):c.1277C>G (p.Ser426Trp) rs121909550
NM_000488.4(SERPINC1):c.1284C>G (p.Asn428Lys)
NM_000488.4(SERPINC1):c.1315C>T (p.Pro439Ser) rs1487411568
NM_000488.4(SERPINC1):c.1331T>A (p.Ile444Lys) rs2102773041
NM_000488.4(SERPINC1):c.1355T>C (p.Ile452Thr)
NM_000488.4(SERPINC1):c.1395A>C (p.Ter465Tyr)
NM_000488.4(SERPINC1):c.21A>T (p.Gly7=)
NM_000488.4(SERPINC1):c.260A>G (p.Asn87Ser) rs2102789848
NM_000488.4(SERPINC1):c.269T>G (p.Phe90Cys)
NM_000488.4(SERPINC1):c.283T>C (p.Tyr95His) rs1657913203
NM_000488.4(SERPINC1):c.296C>A (p.Ala99Glu) rs2102789784
NM_000488.4(SERPINC1):c.331T>C (p.Ser111Pro)
NM_000488.4(SERPINC1):c.363G>A (p.Met121Ile) rs371222224
NM_000488.4(SERPINC1):c.399A>C (p.Gln133His) rs878854019
NM_000488.4(SERPINC1):c.410T>C (p.Val137Ala) rs1657792806
NM_000488.4(SERPINC1):c.485T>C (p.Leu162Pro) rs1657788029
NM_000488.4(SERPINC1):c.50_52dup (p.Tyr17_Leu18insHis)
NM_000488.4(SERPINC1):c.551T>C (p.Leu184Pro)
NM_000488.4(SERPINC1):c.568T>C (p.Tyr190His)
NM_000488.4(SERPINC1):c.624+5_624+12del
NM_000488.4(SERPINC1):c.657C>G (p.Asn219Lys)
NM_000488.4(SERPINC1):c.665T>A (p.Val222Glu) rs1657744293
NM_000488.4(SERPINC1):c.752T>C (p.Ile251Thr)
NM_000488.4(SERPINC1):c.860A>T (p.Glu287Val) rs1404578967
NM_000488.4(SERPINC1):c.875A>T (p.Tyr292Phe)
NM_000488.4(SERPINC1):c.88G>A (p.Val30Met)
NM_000488.4(SERPINC1):c.925G>A (p.Asp309Asn)

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