ClinVar Miner

List of variants studied for Factor XIII, b subunit, deficiency of by Illumina Laboratory Services, Illumina

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Total variants: 44
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HGVS dbSNP gnomAD frequency
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_001994.3(F13B):c.1806T>C (p.Asn602=) rs5998 0.42860
NM_001994.3(F13B):c.*143G>A rs698859 0.31980
NM_001994.3(F13B):c.1707T>G (p.Asp569Glu) rs6000 0.01612
NM_001994.3(F13B):c.*89G>C rs17549873 0.01500
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_001994.3(F13B):c.1902G>A (p.Met634Ile) rs142886126 0.00281
NM_001994.3(F13B):c.1163A>T (p.Glu388Val) rs5991 0.00175
NM_001994.3(F13B):c.*162C>A rs180977741 0.00131
NM_001994.3(F13B):c.1935A>T (p.Arg645Ser) rs149091258 0.00104
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_001994.3(F13B):c.1285T>C (p.Tyr429His) rs201427054 0.00029
NM_001994.3(F13B):c.354C>T (p.Cys118=) rs142562955 0.00026
NM_001994.3(F13B):c.1257C>A (p.Ser419=) rs761403510 0.00021
NM_001994.3(F13B):c.1320A>G (p.Glu440=) rs147383994 0.00009
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_001994.3(F13B):c.796G>C (p.Val266Leu) rs533222920 0.00005
NM_001994.3(F13B):c.1060T>C (p.Tyr354His) rs376295989 0.00004
NM_001994.3(F13B):c.-30T>A rs767006990 0.00003
NM_001994.3(F13B):c.224C>T (p.Thr75Met) rs915458369 0.00003
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_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_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

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