ClinVar Miner

List of variants reported as uncertain significance for congenital factor XIII deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000129.4(F13A1):c.*1045C>G rs3024487 0.02144
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_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.*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_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_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_001994.3(F13B):c.1098C>T (p.Ser366=) rs771474972 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.2067C>T (p.Thr689=) rs750971578 0.00001
NM_000129.4(F13A1):c.889G>A (p.Val297Ile) rs199564311 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.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.1731G>C (p.Thr577=) rs137945179
NM_000129.4(F13A1):c.1998A>G (p.Val666=) rs1760383595
NM_000129.4(F13A1):c.327C>T (p.Tyr109=) rs886061661
NM_000129.4(F13A1):c.476G>A (p.Arg159His) rs747218826
NM_000129.4(F13A1):c.542C>T (p.Thr181Met) rs768849968
NM_000129.4(F13A1):c.680G>A (p.Ser227Asn) rs1757621165
NM_000129.4(F13A1):c.782G>A (p.Arg261His) rs121913071
NM_000129.4(F13A1):c.990A>T (p.Gly330=) rs886061660
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.1556-13C>A rs149088047
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.815A>G (p.Asn272Ser) rs1655688114
NM_001994.3(F13B):c.874T>G (p.Tyr292Asp) rs1247793701
NM_001994.3(F13B):c.889A>C (p.Ile297Leu) rs1655684285
NM_001994.3(F13B):c.96T>C (p.Asn32=) rs1655924673

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.