ClinVar Miner

List of variants studied for hereditary antithrombin deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.1011A>G (p.Gln337=) rs5878 0.48194
NM_000488.4(SERPINC1):c.981A>G (p.Val327=) rs5877 0.48114
NM_000488.4(SERPINC1):c.42-18C>T rs2227599 0.02503
NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala) rs2227606 0.00184
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.678C>T (p.Thr226=) rs2227627 0.00045
NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys) rs143521873 0.00041
NM_000488.4(SERPINC1):c.1005G>A (p.Val335=) rs192187532 0.00031
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn) rs61736655 0.00029
NM_000488.4(SERPINC1):c.763-16T>C rs145418597 0.00026
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=) rs370190321 0.00026
NM_000488.4(SERPINC1):c.1265T>C (p.Ile422Thr) rs772809607 0.00021
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000488.4(SERPINC1):c.910T>C (p.Leu304=) rs150507232 0.00015
NM_000488.4(SERPINC1):c.808C>T (p.Leu270=) rs139275128 0.00011
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly) rs369524182 0.00009
NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala) rs531137446 0.00008
NM_000488.4(SERPINC1):c.719A>G (p.Asn240Ser) rs200861147 0.00006
NM_000488.4(SERPINC1):c.1154-5T>C rs375346550 0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
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.586T>C (p.Leu196=) rs781696456 0.00004
NM_000488.4(SERPINC1):c.708G>A (p.Ser236=) rs774632265 0.00004
NM_000488.4(SERPINC1):c.872G>A (p.Arg291His) rs377588972 0.00004
NM_000488.4(SERPINC1):c.87C>T (p.Cys29=) rs188274879 0.00004
NM_000488.4(SERPINC1):c.1254C>T (p.Thr418=) rs559277597 0.00003
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=) rs183416252 0.00003
NM_000488.4(SERPINC1):c.99C>T (p.His33=) rs147676453 0.00003
NM_000488.4(SERPINC1):c.201C>T (p.Gly67=) rs773751914 0.00002
NM_000488.4(SERPINC1):c.219G>A (p.Pro73=) rs746429528 0.00002
NM_000488.4(SERPINC1):c.633A>G (p.Ala211=) rs780062808 0.00002
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.1119C>T (p.Val373=) rs1271197978 0.00001
NM_000488.4(SERPINC1):c.1218+7A>G rs899914657 0.00001
NM_000488.4(SERPINC1):c.1278G>A (p.Ser426=) rs773792958 0.00001
NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr) rs1487411568 0.00001
NM_000488.4(SERPINC1):c.192G>A (p.Glu64=) rs1462236331 0.00001
NM_000488.4(SERPINC1):c.237T>C (p.Arg79=) rs781591817 0.00001
NM_000488.4(SERPINC1):c.31T>A (p.Ser11Thr) rs1445653081 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.468C>T (p.Ala156=) rs759369437 0.00001
NM_000488.4(SERPINC1):c.530G>A (p.Arg177His) rs878854020 0.00001
NM_000488.4(SERPINC1):c.648G>A (p.Ala216=) rs767468032 0.00001
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter) rs1657743081 0.00001
NM_000488.4(SERPINC1):c.716T>C (p.Ile239Thr) rs749510661 0.00001
NM_000488.4(SERPINC1):c.756C>T (p.Tyr252=) rs745970800 0.00001
NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys) rs758087836 0.00001
NM_000488.4(SERPINC1):c.914C>A (p.Pro305His) rs549991084 0.00001
NM_000488.4(SERPINC1):c.946A>T (p.Ile316Phe) rs1657686098 0.00001
NC_000001.11:g.(?_173903804)_(173917378_?)del
NC_000001.11:g.173917430G>C
NM_000488.4(SERPINC1):c.1000G>A (p.Glu334Lys)
NM_000488.4(SERPINC1):c.1007T>C (p.Leu336Pro)
NM_000488.4(SERPINC1):c.1008G>C (p.Leu336=)
NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter)
NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter) rs483352856
NM_000488.4(SERPINC1):c.1051C>T (p.His351Tyr)
NM_000488.4(SERPINC1):c.1057C>T (p.Pro353Ser) rs2102782517
NM_000488.4(SERPINC1):c.1058C>T (p.Pro353Leu)
NM_000488.4(SERPINC1):c.105C>T (p.Ser35=)
NM_000488.4(SERPINC1):c.1060del (p.Arg354fs) rs863224495
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.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.1153+5G>T rs1572088348
NM_000488.4(SERPINC1):c.1153+7C>T
NM_000488.4(SERPINC1):c.1154-14G>A rs542881762
NM_000488.4(SERPINC1):c.1154-14G>C
NM_000488.4(SERPINC1):c.1154-15C>T
NM_000488.4(SERPINC1):c.1154G>A (p.Gly385Asp) rs878854018
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr) rs1449772752
NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter)
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter) rs2102778910
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.1207del (p.Ala403fs)
NM_000488.4(SERPINC1):c.1218+11C>T
NM_000488.4(SERPINC1):c.1219-16C>T
NM_000488.4(SERPINC1):c.1219-8A>G
NM_000488.4(SERPINC1):c.1235G>A (p.Ser412Asn)
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.1267G>A (p.Ala423Thr) rs1008874845
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.1275T>C (p.Arg425=) rs1227097057
NM_000488.4(SERPINC1):c.1277C>G (p.Ser426Trp) rs121909550
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) rs121909550
NM_000488.4(SERPINC1):c.1284C>G (p.Asn428Lys)
NM_000488.4(SERPINC1):c.1284C>T (p.Asn428=)
NM_000488.4(SERPINC1):c.1302C>A (p.Phe434Leu)
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr) rs121909546
NM_000488.4(SERPINC1):c.1311C>G (p.Asn437Lys)
NM_000488.4(SERPINC1):c.1315C>G (p.Pro439Ala) rs1487411568
NM_000488.4(SERPINC1):c.1315C>T (p.Pro439Ser) rs1487411568
NM_000488.4(SERPINC1):c.132G>A (p.Pro44=)
NM_000488.4(SERPINC1):c.1331T>A (p.Ile444Lys) rs2102773041
NM_000488.4(SERPINC1):c.1338A>G (p.Glu446=)
NM_000488.4(SERPINC1):c.1350C>T (p.Asn450=)
NM_000488.4(SERPINC1):c.1355T>C (p.Ile452Thr)
NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)
NM_000488.4(SERPINC1):c.138C>T (p.Asp46=)
NM_000488.4(SERPINC1):c.1395A>C (p.Ter465Tyr)
NM_000488.4(SERPINC1):c.15G>T (p.Val5=)
NM_000488.4(SERPINC1):c.171C>T (p.Ser57=)
NM_000488.4(SERPINC1):c.205G>T (p.Glu69Ter)
NM_000488.4(SERPINC1):c.21A>T (p.Gly7=)
NM_000488.4(SERPINC1):c.240C>T (p.Val80=) rs2102789873
NM_000488.4(SERPINC1):c.243G>A (p.Trp81Ter)
NM_000488.4(SERPINC1):c.260A>G (p.Asn87Ser) rs2102789848
NM_000488.4(SERPINC1):c.269T>G (p.Phe90Cys)
NM_000488.4(SERPINC1):c.272C>T (p.Ala91Val)
NM_000488.4(SERPINC1):c.283T>C (p.Tyr95His) rs1657913203
NM_000488.4(SERPINC1):c.28dup (p.Thr10fs)
NM_000488.4(SERPINC1):c.296C>A (p.Ala99Glu) rs2102789784
NM_000488.4(SERPINC1):c.30C>A (p.Thr10=)
NM_000488.4(SERPINC1):c.331T>C (p.Ser111Pro)
NM_000488.4(SERPINC1):c.333A>G (p.Ser111=) rs2102789680
NM_000488.4(SERPINC1):c.337C>T (p.Leu113=)
NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn) rs1657909645
NM_000488.4(SERPINC1):c.342T>C (p.Ser114=)
NM_000488.4(SERPINC1):c.363G>A (p.Met121Ile) rs371222224
NM_000488.4(SERPINC1):c.366C>G (p.Thr122=) rs2102789624
NM_000488.4(SERPINC1):c.370C>T (p.Leu124=)
NM_000488.4(SERPINC1):c.374G>A (p.Gly125Asp)
NM_000488.4(SERPINC1):c.381T>A (p.Cys127Ter) rs2102789590
NM_000488.4(SERPINC1):c.399A>C (p.Gln133His) rs878854019
NM_000488.4(SERPINC1):c.409-11G>T
NM_000488.4(SERPINC1):c.409-12del rs201656611
NM_000488.4(SERPINC1):c.409-12dup rs201656611
NM_000488.4(SERPINC1):c.409-1G>C
NM_000488.4(SERPINC1):c.409-1G>T
NM_000488.4(SERPINC1):c.409-8T>C
NM_000488.4(SERPINC1):c.41+12G>A
NM_000488.4(SERPINC1):c.41+5G>A
NM_000488.4(SERPINC1):c.410T>C (p.Val137Ala) rs1657792806
NM_000488.4(SERPINC1):c.415_420del (p.Lys139_Phe140del) rs1572090368
NM_000488.4(SERPINC1):c.417G>A (p.Lys139=) rs2102786232
NM_000488.4(SERPINC1):c.42-10C>A
NM_000488.4(SERPINC1):c.42-15T>C
NM_000488.4(SERPINC1):c.423C>T (p.Asp141=) rs1657792288
NM_000488.4(SERPINC1):c.448dup (p.Gln150fs) rs1572090305
NM_000488.4(SERPINC1):c.452T>A (p.Ile151Asn)
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.485T>C (p.Leu162Pro) rs1657788029
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)
NM_000488.4(SERPINC1):c.50_52dup (p.Tyr17_Leu18insHis)
NM_000488.4(SERPINC1):c.51T>C (p.Tyr17=) rs2102790373
NM_000488.4(SERPINC1):c.525C>T (p.Ala175=) rs1553218235
NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser) rs483352847
NM_000488.4(SERPINC1):c.551T>C (p.Leu184Pro)
NM_000488.4(SERPINC1):c.553A>G (p.Thr185Ala) rs574547491
NM_000488.4(SERPINC1):c.568T>C (p.Tyr190His)
NM_000488.4(SERPINC1):c.580A>C (p.Ser194Arg)
NM_000488.4(SERPINC1):c.591A>G (p.Val197=)
NM_000488.4(SERPINC1):c.607C>T (p.Gln203Ter) rs2102785788
NM_000488.4(SERPINC1):c.624+18C>T
NM_000488.4(SERPINC1):c.624+5_624+12del
NM_000488.4(SERPINC1):c.625-5C>G
NM_000488.4(SERPINC1):c.625-9T>C rs2102784825
NM_000488.4(SERPINC1):c.641C>A (p.Ser214Tyr) rs483352854
NM_000488.4(SERPINC1):c.645A>G (p.Arg215=) rs863224366
NM_000488.4(SERPINC1):c.657C>G (p.Asn219Lys)
NM_000488.4(SERPINC1):c.665T>A (p.Val222Glu) rs1657744293
NM_000488.4(SERPINC1):c.669C>A (p.Ser223=)
NM_000488.4(SERPINC1):c.678C>G (p.Thr226=)
NM_000488.4(SERPINC1):c.679G>A (p.Glu227Lys)
NM_000488.4(SERPINC1):c.693C>A (p.Thr231=)
NM_000488.4(SERPINC1):c.693C>G (p.Thr231=) rs140452859
NM_000488.4(SERPINC1):c.693C>T (p.Thr231=) rs140452859
NM_000488.4(SERPINC1):c.749C>T (p.Thr250Ile)
NM_000488.4(SERPINC1):c.750C>A (p.Thr250=) rs1018454989
NM_000488.4(SERPINC1):c.752T>C (p.Ile251Thr)
NM_000488.4(SERPINC1):c.762+19G>C
NM_000488.4(SERPINC1):c.762+7A>G rs2102784549
NM_000488.4(SERPINC1):c.766del (p.Leu256fs) rs1572088865
NM_000488.4(SERPINC1):c.777A>C (p.Ser259=) rs746961120
NM_000488.4(SERPINC1):c.830_831del (p.Glu277fs) rs1657694750
NM_000488.4(SERPINC1):c.834G>A (p.Ser278=)
NM_000488.4(SERPINC1):c.851T>C (p.Met284Thr)
NM_000488.4(SERPINC1):c.860A>T (p.Glu287Val) rs1404578967
NM_000488.4(SERPINC1):c.873T>C (p.Arg291=)
NM_000488.4(SERPINC1):c.875A>T (p.Tyr292Phe)
NM_000488.4(SERPINC1):c.876T>C (p.Tyr292=)
NM_000488.4(SERPINC1):c.878G>A (p.Arg293Gln)
NM_000488.4(SERPINC1):c.882C>G (p.Arg294=) rs184508490
NM_000488.4(SERPINC1):c.882C>T (p.Arg294=)
NM_000488.4(SERPINC1):c.885G>T (p.Val295=)
NM_000488.4(SERPINC1):c.88G>A (p.Val30Met)
NM_000488.4(SERPINC1):c.894C>T (p.Gly298=)
NM_000488.4(SERPINC1):c.925G>A (p.Asp309Asn)
NM_000488.4(SERPINC1):c.98dup (p.His33fs)

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