ClinVar Miner

List of variants reported as likely pathogenic for coagulation protein disease by Counsyl

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP
NM_000128.3(F11):c.1028+1G>A rs1316806485
NM_000128.3(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) rs773905328
NM_000128.3(F11):c.1136-7_1136-4del rs1439195599
NM_000128.3(F11):c.1186C>T (p.Arg396Cys) rs771896253
NM_000128.3(F11):c.1232_1235del (p.Thr411fs) rs1057517446
NM_000128.3(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.3(F11):c.1247G>A (p.Cys416Tyr) rs779802284
NM_000128.3(F11):c.1253G>T (p.Gly418Val) rs121965071
NM_000128.3(F11):c.1305-1G>A rs1057517204
NM_000128.3(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.3(F11):c.1329del (p.Val444fs) rs1554083727
NM_000128.3(F11):c.1362_1375del (p.Lys455fs) rs1554083734
NM_000128.3(F11):c.1376_1379CTTT[1] (p.Phe460fs) rs1554083736
NM_000128.3(F11):c.1390C>T (p.Gln464Ter) rs1057517035
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.1472dup (p.Asn491fs) rs1554083753
NM_000128.3(F11):c.1478C>T (p.Thr493Ile) rs1554083754
NM_000128.3(F11):c.1480+2T>C rs1554083758
NM_000128.3(F11):c.1481-1G>C rs1057516506
NM_000128.3(F11):c.1481-1G>T rs1057516506
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) rs201007090
NM_000128.3(F11):c.155dup (p.Tyr52Ter) rs1554081886
NM_000128.3(F11):c.1560dup (p.Tyr521fs) rs1057516777
NM_000128.3(F11):c.1613C>T (p.Pro538Leu) rs139695003
NM_000128.3(F11):c.1620_1621dup (p.Thr541fs) rs1554084031
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.1676_1682del (p.Ile559fs) rs1057517171
NM_000128.3(F11):c.1693G>A (p.Glu565Lys) rs281875275
NM_000128.3(F11):c.16C>T (p.Gln6Ter) rs1554081288
NM_000128.3(F11):c.1724C>A (p.Ser575Ter) rs281875250
NM_000128.3(F11):c.1778C>T (p.Thr593Met) rs145906668
NM_000128.3(F11):c.1789G>T (p.Glu597Ter) rs281875251
NM_000128.3(F11):c.218+1G>A rs1057516738
NM_000128.3(F11):c.219G>A (p.Trp73Ter) rs762013077
NM_000128.3(F11):c.25_28del (p.His9fs) rs1057516616
NM_000128.3(F11):c.291del (p.Tyr98fs) rs1057517151
NM_000128.3(F11):c.2T>A (p.Met1Lys) rs1554081281
NM_000128.3(F11):c.325G>A (p.Ala109Thr) rs768474112
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.408C>A (p.Cys136Ter) rs143648758
NM_000128.3(F11):c.486-2A>G rs1057516695
NM_000128.3(F11):c.596-7_600del rs1057517116
NM_000128.3(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.3(F11):c.67C>T (p.Gln23Ter) rs768409400
NM_000128.3(F11):c.682C>T (p.Arg228Ter) rs752907087
NM_000128.3(F11):c.730C>T (p.Gln244Ter) rs747702749
NM_000128.3(F11):c.751C>T (p.Gln251Ter) rs754087775
NM_000128.3(F11):c.755+2T>C rs1220869989
NM_000128.3(F11):c.769del (p.Thr259fs) rs1554082832
NM_000128.3(F11):c.865+1G>C rs1349655563
NM_000128.3(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.3(F11):c.959_960TG[1] (p.Cys321fs) rs786204449
NM_000128.3(F11):c.964_965del (p.Thr322fs) rs1057516431
NM_000128.3(F11):c.990del (p.Phe330fs) rs1554082938
NM_000128.3(F11):c.990dup (p.Thr331fs) rs1554082938

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