ClinVar Miner

List of variants studied for congenital factor XIII deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 117
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HGVS dbSNP
NC_000006.12:g.6320663G>C
NM_000129.3(F13A1):c.*1030G>T rs548323382
NM_000129.3(F13A1):c.*112G>T rs3024463
NM_000129.3(F13A1):c.*1167T>G rs886061655
NM_000129.3(F13A1):c.*126T>C rs1050782
NM_000129.3(F13A1):c.*160G>A rs1050783
NM_000129.3(F13A1):c.*221G>A rs3024464
NM_000129.3(F13A1):c.*270C>T rs568780978
NM_000129.3(F13A1):c.*417G>T rs886061658
NM_000129.3(F13A1):c.*42G>A rs886061659
NM_000129.3(F13A1):c.*443G>A rs3024486
NM_000129.3(F13A1):c.*587G>A rs75981686
NM_000129.3(F13A1):c.*619C>T rs191569585
NM_000129.3(F13A1):c.*627G>A rs886061657
NM_000129.3(F13A1):c.*628G>A rs886061656
NM_000129.3(F13A1):c.*67C>T rs182425546
NM_000129.3(F13A1):c.*743G>A rs12862
NM_000129.3(F13A1):c.*89A>G rs3024462
NM_000129.3(F13A1):c.*927G>A rs746364189
NM_000129.3(F13A1):c.*945T>C rs774737661
NM_000129.3(F13A1):c.*995G>T rs3024466
NM_000129.3(F13A1):c.-18-5dup rs750373197
NM_000129.3(F13A1):c.-19+12A>C rs2815822
NM_000129.3(F13A1):c.-28G>A rs886061662
NM_000129.3(F13A1):c.102C>T (p.Gly34=) rs187027323
NM_000129.3(F13A1):c.103G>T (p.Val35Leu) rs5985
NM_000129.3(F13A1):c.1112+11T>C rs758486753
NM_000129.3(F13A1):c.160T>A (p.Phe54Ile) rs138690353
NM_000129.3(F13A1):c.1694C>T (p.Pro565Leu) rs5982
NM_000129.3(F13A1):c.1704A>G (p.Glu568=) rs5986
NM_000129.3(F13A1):c.1731G>C (p.Thr577=) rs137945179
NM_000129.3(F13A1):c.1777G>A (p.Gly593Ser) rs138754417
NM_000129.3(F13A1):c.1860G>C (p.Leu620=) rs138943514
NM_000129.3(F13A1):c.1951G>A (p.Val651Ile) rs5987
NM_000129.3(F13A1):c.1954G>C (p.Glu652Gln) rs5988
NM_000129.3(F13A1):c.2029A>G (p.Met677Val) rs371964182
NM_000129.3(F13A1):c.2067C>T (p.Thr689=) rs750971578
NM_000129.3(F13A1):c.327C>T (p.Tyr109=) rs886061661
NM_000129.3(F13A1):c.782G>A (p.Arg261His) rs121913071
NM_000129.3(F13A1):c.799-13C>T rs188094485
NM_000129.3(F13A1):c.889G>A (p.Val297Ile) rs199564311
NM_000129.3(F13A1):c.980G>A (p.Arg327Gln) rs121913072
NM_000129.3(F13A1):c.990A>T (p.Gly330=) rs886061660
NM_000129.3(F13A1):c.996A>C (p.Pro332=) rs5981
NM_000129.4(F13A1):c.*102G>A
NM_000129.4(F13A1):c.*1045C>G
NM_000129.4(F13A1):c.*1135G>A
NM_000129.4(F13A1):c.*1253T>C
NM_000129.4(F13A1):c.*1455G>C
NM_000129.4(F13A1):c.*208T>C
NM_000129.4(F13A1):c.*428C>A
NM_000129.4(F13A1):c.*606T>C
NM_000129.4(F13A1):c.*796G>A
NM_000129.4(F13A1):c.*934G>A
NM_000129.4(F13A1):c.*966G>T
NM_000129.4(F13A1):c.1032T>C (p.Asp344=) rs142274716
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val)
NM_000129.4(F13A1):c.130+15C>G
NM_000129.4(F13A1):c.1492G>T (p.Ala498Ser)
NM_000129.4(F13A1):c.1689G>A (p.Gly563=) rs58315745
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met)
NM_000129.4(F13A1):c.1748-7C>G
NM_000129.4(F13A1):c.1761G>A (p.Ala587=)
NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln) rs5983
NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser)
NM_000129.4(F13A1):c.1998A>G (p.Val666=)
NM_000129.4(F13A1):c.2036A>T (p.Lys679Met)
NM_000129.4(F13A1):c.2169C>T (p.Asp723=) rs5989
NM_000129.4(F13A1):c.476G>A (p.Arg159His)
NM_000129.4(F13A1):c.542C>T (p.Thr181Met)
NM_000129.4(F13A1):c.614A>T (p.Tyr205Phe)
NM_000129.4(F13A1):c.680G>A (p.Ser227Asn)
NM_000129.4(F13A1):c.911G>A (p.Arg304Gln)
NM_001994.2(F13B):c.*143G>A rs698859
NM_001994.2(F13B):c.*162C>A rs180977741
NM_001994.2(F13B):c.*89G>C rs17549873
NM_001994.2(F13B):c.-30T>A rs767006990
NM_001994.2(F13B):c.1025T>C (p.Ile342Thr) rs17514281
NM_001994.2(F13B):c.1060T>C (p.Tyr354His) rs376295989
NM_001994.2(F13B):c.1089A>C (p.Ala363=) rs117019969
NM_001994.2(F13B):c.1098C>T (p.Ser366=) rs771474972
NM_001994.2(F13B):c.1145A>G (p.Lys382Arg) rs755966271
NM_001994.2(F13B):c.1163A>T (p.Glu388Val) rs5991
NM_001994.2(F13B):c.1285T>C (p.Tyr429His) rs201427054
NM_001994.2(F13B):c.1320A>G (p.Glu440=) rs147383994
NM_001994.2(F13B):c.1556-13C>A rs149088047
NM_001994.2(F13B):c.1670A>G (p.His557Arg) rs759631235
NM_001994.2(F13B):c.1707T>G (p.Asp569Glu) rs6000
NM_001994.2(F13B):c.1739-8_1739-6del rs556380704
NM_001994.2(F13B):c.1806T>C (p.Asn602=) rs5998
NM_001994.2(F13B):c.1815C>T (p.His605=) rs375961962
NM_001994.2(F13B):c.1902G>A (p.Met634Ile) rs142886126
NM_001994.2(F13B):c.1961C>T (p.Ser654Phe) rs561359007
NM_001994.2(F13B):c.344G>A (p.Arg115His) rs6003
NM_001994.2(F13B):c.354C>T (p.Cys118=) rs142562955
NM_001994.2(F13B):c.456A>G (p.Thr152=) rs5997
NM_001994.2(F13B):c.570G>A (p.Lys190=) rs17514253
NM_001994.2(F13B):c.645_647del (p.Leu216del) rs750927097
NM_001994.2(F13B):c.796G>C (p.Val266Leu) rs533222920
NM_001994.2(F13B):c.877C>T (p.Arg293Cys) rs780257236
NM_001994.2(F13B):c.986-4T>C rs76405247
NM_001994.3(F13B):c.-23C>A
NM_001994.3(F13B):c.1049A>G (p.His350Arg) rs5999
NM_001994.3(F13B):c.1106T>C (p.Leu369Pro)
NM_001994.3(F13B):c.1228G>A (p.Gly410Arg)
NM_001994.3(F13B):c.1257C>A (p.Ser419=)
NM_001994.3(F13B):c.1317C>T (p.Cys439=)
NM_001994.3(F13B):c.1586T>C (p.Leu529Pro) rs17549671
NM_001994.3(F13B):c.1877A>G (p.Tyr626Cys)
NM_001994.3(F13B):c.1935A>T (p.Arg645Ser)
NM_001994.3(F13B):c.224C>T (p.Thr75Met)
NM_001994.3(F13B):c.675T>A (p.His225Gln)
NM_001994.3(F13B):c.765C>T (p.Cys255=) rs5994
NM_001994.3(F13B):c.815A>G (p.Asn272Ser)
NM_001994.3(F13B):c.874T>G (p.Tyr292Asp)
NM_001994.3(F13B):c.889A>C (p.Ile297Leu)
NM_001994.3(F13B):c.96T>C (p.Asn32=)

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