ClinVar Miner

List of variants studied for congenital factor XIII deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_000129.4(F13A1):c.1747+27C>G rs380058 0.98624
NM_000129.4(F13A1):c.-19+12A>C rs2815822 0.88252
NM_001994.3(F13B):c.456A>G (p.Thr152=) rs5997 0.77286
NM_001994.3(F13B):c.344G>A (p.Arg115His) rs6003 0.75658
NM_000129.4(F13A1):c.*126T>C rs1050782 0.52358
NM_001994.3(F13B):c.1806T>C (p.Asn602=) rs5998 0.42860
NM_001994.3(F13B):c.*143G>A rs698859 0.31980
NM_000129.4(F13A1):c.1217-23C>T rs5978 0.26684
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) rs5985 0.22002
NM_000129.4(F13A1):c.1954G>C (p.Glu652Gln) rs5988 0.21467
NM_000129.4(F13A1):c.1909-29G>C rs2274394 0.21456
NM_000129.4(F13A1):c.1694C>T (p.Pro565Leu) rs5982 0.18893
NM_000129.4(F13A1):c.*160G>A rs1050783 0.18575
NM_000129.4(F13A1):c.996A>C (p.Pro332=) rs5981 0.15230
NM_000129.4(F13A1):c.*995G>T rs3024466 0.13914
NM_000129.4(F13A1):c.1217-24C>T rs5977 0.12083
NM_000129.4(F13A1):c.-19+12= rs2815822 0.11748
NM_000129.4(F13A1):c.1704A>G (p.Glu568=) rs5986 0.07753
NM_000129.4(F13A1):c.1951G>A (p.Val651Ile) rs5987 0.05207
NM_000129.4(F13A1):c.*443G>A rs3024486 0.04832
NM_000129.4(F13A1):c.*89A>G rs3024462 0.04627
NM_000129.4(F13A1):c.*112G>T rs3024463 0.04625
NM_000129.4(F13A1):c.*743G>A rs12862 0.04625
NM_000129.4(F13A1):c.*221G>A rs3024464 0.04624
NM_000129.4(F13A1):c.*1045C>G rs3024487 0.02144
NM_000129.4(F13A1):c.614A>T (p.Tyr205Phe) rs3024477 0.01940
NM_001994.3(F13B):c.1707T>G (p.Asp569Glu) rs6000 0.01612
NM_001994.3(F13B):c.*89G>C rs17549873 0.01500
NM_000129.4(F13A1):c.1689G>A (p.Gly563=) rs58315745 0.00958
NM_000129.4(F13A1):c.*587G>A rs75981686 0.00859
NM_001994.3(F13B):c.1049A>G (p.His350Arg) rs5999 0.00858
NM_001994.3(F13B):c.765C>T (p.Cys255=) rs5994 0.00807
NM_001994.3(F13B):c.570G>A (p.Lys190=) rs17514253 0.00792
NM_001994.3(F13B):c.1586T>C (p.Leu529Pro) rs17549671 0.00764
NM_001994.3(F13B):c.1025T>C (p.Ile342Thr) rs17514281 0.00637
NM_000129.4(F13A1):c.*966G>T rs138629563 0.00456
NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln) rs5983 0.00445
NM_000129.4(F13A1):c.2169C>T (p.Asp723=) rs5989 0.00357
NM_001994.3(F13B):c.1902G>A (p.Met634Ile) rs142886126 0.00281
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00237
NM_000129.4(F13A1):c.1032T>C (p.Asp344=) rs142274716 0.00215
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met) rs143711562 0.00178
NM_001994.3(F13B):c.1163A>T (p.Glu388Val) rs5991 0.00175
NM_000129.4(F13A1):c.*208T>C rs192234804 0.00173
NM_001994.3(F13B):c.*162C>A rs180977741 0.00131
NM_001994.3(F13B):c.1935A>T (p.Arg645Ser) rs149091258 0.00104
NM_000129.4(F13A1):c.*270C>T rs568780978 0.00096
NM_000129.4(F13A1):c.*1253T>C rs1803604 0.00090
NM_000129.4(F13A1):c.160T>A (p.Phe54Ile) rs138690353 0.00083
NM_000129.4(F13A1):c.1860G>C (p.Leu620=) rs138943514 0.00053
NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser) rs145180358 0.00053
NM_001994.3(F13B):c.1089A>C (p.Ala363=) rs117019969 0.00047
NM_001994.3(F13B):c.986-4T>C rs76405247 0.00046
NM_001994.3(F13B):c.1228G>A (p.Gly410Arg) rs144134146 0.00042
NM_000129.4(F13A1):c.*67C>T rs182425546 0.00033
NM_000129.4(F13A1):c.1984C>T (p.Arg662Ter) rs267606789 0.00032
NM_001994.3(F13B):c.1285T>C (p.Tyr429His) rs201427054 0.00029
NM_001994.3(F13B):c.354C>T (p.Cys118=) rs142562955 0.00026
NM_000129.4(F13A1):c.130+15C>G rs200488257 0.00025
NM_000129.4(F13A1):c.1492G>T (p.Ala498Ser) rs745888361 0.00023
NM_001994.3(F13B):c.1257C>A (p.Ser419=) rs761403510 0.00021
NM_000129.4(F13A1):c.1761G>A (p.Ala587=) rs377479323 0.00017
NM_000129.4(F13A1):c.911G>A (p.Arg304Gln) rs139164988 0.00016
NM_000129.4(F13A1):c.102C>T (p.Gly34=) rs187027323 0.00015
NM_000129.4(F13A1):c.2036A>T (p.Lys679Met) rs201302247 0.00011
NM_000129.4(F13A1):c.*628G>A rs886061656 0.00010
NM_000129.4(F13A1):c.*927G>A rs746364189 0.00010
NM_000129.4(F13A1):c.*619C>T rs191569585 0.00009
NM_000129.4(F13A1):c.*934G>A rs921932200 0.00009
NM_001994.3(F13B):c.1320A>G (p.Glu440=) rs147383994 0.00009
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val) rs76451285 0.00008
NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs) rs748757906 0.00007
NM_000129.4(F13A1):c.*945T>C rs774737661 0.00006
NM_000129.4(F13A1):c.799-13C>T rs188094485 0.00006
NM_001994.3(F13B):c.1670A>G (p.His557Arg) rs759631235 0.00006
NM_001994.3(F13B):c.1815C>T (p.His605=) rs375961962 0.00006
NM_000129.4(F13A1):c.2029A>G (p.Met677Val) rs371964182 0.00005
NM_000129.4(F13A1):c.691-1G>A rs372296352 0.00005
NM_001994.3(F13B):c.796G>C (p.Val266Leu) rs533222920 0.00005
NM_000129.4(F13A1):c.*1030G>T rs548323382 0.00004
NM_000129.4(F13A1):c.*796G>A rs56039031 0.00004
NM_000129.4(F13A1):c.1504G>A (p.Gly502Arg) rs121913068 0.00004
NM_001994.3(F13B):c.1060T>C (p.Tyr354His) rs376295989 0.00004
NM_000129.4(F13A1):c.1112+11T>C rs758486753 0.00003
NM_000129.4(F13A1):c.1748-7C>G rs746371632 0.00003
NM_001994.3(F13B):c.-30T>A rs767006990 0.00003
NM_001994.3(F13B):c.224C>T (p.Thr75Met) rs915458369 0.00003
NM_000129.4(F13A1):c.*627G>A rs886061657 0.00002
NM_000129.4(F13A1):c.1531G>A (p.Gly511Ser) rs1178415419 0.00002
NM_000129.4(F13A1):c.980G>A (p.Arg327Gln) rs121913072 0.00002
NM_001994.3(F13B):c.1098C>T (p.Ser366=) rs771474972 0.00002
NM_001994.3(F13B):c.1942C>T (p.Pro648Ser) rs759996311 0.00002
NM_001994.3(F13B):c.805+1G>A rs550859190 0.00002
NM_001994.3(F13B):c.877C>T (p.Arg293Cys) rs780257236 0.00002
NM_000129.4(F13A1):c.*606T>C rs148907610 0.00001
NM_000129.4(F13A1):c.-28G>A rs886061662 0.00001
NM_000129.4(F13A1):c.1687G>A (p.Gly563Arg) rs121913069 0.00001
NM_000129.4(F13A1):c.2045G>A (p.Arg682His) rs121913064 0.00001
NM_000129.4(F13A1):c.2067C>T (p.Thr689=) rs750971578 0.00001
NM_000129.4(F13A1):c.889G>A (p.Val297Ile) rs199564311 0.00001
NM_000129.4(F13A1):c.949G>T (p.Val317Phe) rs121913073 0.00001
NM_001994.3(F13B):c.-23C>A rs761442589 0.00001
NM_001994.3(F13B):c.1145A>G (p.Lys382Arg) rs755966271 0.00001
NM_001994.3(F13B):c.1877A>G (p.Tyr626Cys) rs201438197 0.00001
NM_001994.3(F13B):c.299_300insAAC (p.Tyr100Ter) rs779048554 0.00001
NM_001994.3(F13B):c.645_647del (p.Leu216del) rs750927097 0.00001
NM_001994.3(F13B):c.675T>A (p.His225Gln) rs182353865 0.00001
NM_000129.3(F13A1):c.-95C>G rs192331652
NM_000129.4(F13A1):c.*102G>A rs541596469
NM_000129.4(F13A1):c.*1135G>A rs933569768
NM_000129.4(F13A1):c.*1167T>G rs886061655
NM_000129.4(F13A1):c.*1455G>C rs1760234417
NM_000129.4(F13A1):c.*417G>T rs886061658
NM_000129.4(F13A1):c.*428C>A rs138139907
NM_000129.4(F13A1):c.*42G>A rs886061659
NM_000129.4(F13A1):c.-18-5dup rs750373197
NM_000129.4(F13A1):c.1112+1G>A
NM_000129.4(F13A1):c.1201dup (p.Gln401fs) rs1290008988
NM_000129.4(F13A1):c.1243G>T (p.Val415Phe) rs121913070
NM_000129.4(F13A1):c.1297T>G (p.Phe433Val) rs1761279176
NM_000129.4(F13A1):c.131_132del rs2113184331
NM_000129.4(F13A1):c.1326C>A (p.Tyr442Ter) rs121913066
NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala) rs1458190494
NM_000129.4(F13A1):c.1352_1353del (p.His451fs) rs1561645895
NM_000129.4(F13A1):c.1405_1408del (p.Gln469fs) rs1760997136
NM_000129.4(F13A1):c.1430A>G (p.Asp477Gly)
NM_000129.4(F13A1):c.1731G>C (p.Thr577=) rs137945179
NM_000129.4(F13A1):c.1804C>T (p.Gln602Ter) rs757172838
NM_000129.4(F13A1):c.1817del (p.His606fs) rs1561641262
NM_000129.4(F13A1):c.183C>A (p.Asn61Lys) rs121913067
NM_000129.4(F13A1):c.186G>C (p.Lys62Asn) rs2113184204
NM_000129.4(F13A1):c.1909G>A (p.Val637Ile) rs1483793682
NM_000129.4(F13A1):c.1914_1915del (p.Gly639fs)
NM_000129.4(F13A1):c.1998A>G (p.Val666=) rs1760383595
NM_000129.4(F13A1):c.2110C>T (p.Arg704Trp) rs267606787
NM_000129.4(F13A1):c.2150A>G (p.His717Arg)
NM_000129.4(F13A1):c.232C>T (p.Arg78Cys)
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu) rs768024997
NM_000129.4(F13A1):c.235A>T (p.Arg79Ter)
NM_000129.4(F13A1):c.27del (p.Phe9fs) rs763797788
NM_000129.4(F13A1):c.327C>T (p.Tyr109=) rs886061661
NM_000129.4(F13A1):c.460_461insGC (p.Ile154fs) rs2113123881
NM_000129.4(F13A1):c.476G>A (p.Arg159His) rs747218826
NM_000129.4(F13A1):c.514C>T (p.Arg172Ter) rs121913065
NM_000129.4(F13A1):c.542C>T (p.Thr181Met) rs768849968
NM_000129.4(F13A1):c.563G>T (p.Trp188Leu) rs1561673120
NM_000129.4(F13A1):c.601G>A (p.Glu201Lys)
NM_000129.4(F13A1):c.603_606del (p.Arg202fs) rs1416626948
NM_000129.4(F13A1):c.669del (p.Arg224fs)
NM_000129.4(F13A1):c.680G>A (p.Ser227Asn) rs1757621165
NM_000129.4(F13A1):c.707T>G (p.Leu236Arg)
NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter)
NM_000129.4(F13A1):c.728T>C (p.Met243Thr) rs267606788
NM_000129.4(F13A1):c.782G>A (p.Arg261His) rs121913071
NM_000129.4(F13A1):c.787G>A (p.Gly263Arg) rs1414492888
NM_000129.4(F13A1):c.798+2T>C rs1757581465
NM_000129.4(F13A1):c.820G>C (p.Gly274Arg)
NM_000129.4(F13A1):c.851A>G (p.Tyr284Cys) rs121913074
NM_000129.4(F13A1):c.888C>G (p.Ser296Arg) rs778181928
NM_000129.4(F13A1):c.937G>C (p.Gly313Arg)
NM_000129.4(F13A1):c.990A>T (p.Gly330=) rs886061660
NM_001994.3(F13B):c.1079T>A (p.Val360Glu) rs2125068039
NM_001994.3(F13B):c.1106T>C (p.Leu369Pro) rs1655669695
NM_001994.3(F13B):c.1317C>T (p.Cys439=) rs149466650
NM_001994.3(F13B):c.1349G>T (p.Cys450Phe) rs121913075
NM_001994.3(F13B):c.1498del (p.Glu500fs) rs797044453
NM_001994.3(F13B):c.1520GAG[1] (p.Gly508del)
NM_001994.3(F13B):c.1556-13C>A rs149088047
NM_001994.3(F13B):c.1693G>A (p.Ala565Thr) rs2125062488
NM_001994.3(F13B):c.1739-8_1739-6del rs556380704
NM_001994.3(F13B):c.1961C>T (p.Ser654Phe) rs561359007
NM_001994.3(F13B):c.431C>T (p.Pro144Leu) rs1558311941
NM_001994.3(F13B):c.521A>T (p.Asp174Val) rs2125072085
NM_001994.3(F13B):c.565G>T (p.Gly189Ter) rs2125071982
NM_001994.3(F13B):c.625A>G (p.Thr209Ala) rs201594137
NM_001994.3(F13B):c.65-2del rs748297201
NM_001994.3(F13B):c.779G>T (p.Trp260Leu) rs2125071222
NM_001994.3(F13B):c.815A>G (p.Asn272Ser) rs1655688114
NM_001994.3(F13B):c.86A>T (p.His29Leu)
NM_001994.3(F13B):c.874T>G (p.Tyr292Asp) rs1247793701
NM_001994.3(F13B):c.881A>T (p.His294Leu) rs2125068412
NM_001994.3(F13B):c.889A>C (p.Ile297Leu) rs1655684285
NM_001994.3(F13B):c.96T>C (p.Asn32=) rs1655924673

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