ClinVar Miner

List of variants in gene F7 studied for congenital vitamin K-dependent coagulation factors deficiency

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 128
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HGVS dbSNP
A244V
C178Y
C310F
C61*
E25K
F7, -55C-T
F7, -61T-G
F7, -94C-G
F7, 1-BP DEL, 11128C
F7, ARG247HIS
F7, ASN57ASP
F7, GLY354CYS
F7, IVS4DS, G-A, +1
F7, THR359MET
NM_000131.4(F7):c.-55C>T rs1418012389
NM_000131.4(F7):c.-61T>G rs1367115848
NM_000131.4(F7):c.108G>A (p.Pro36=) rs3093238
NM_000131.4(F7):c.130+11A>T rs886049986
NM_000131.4(F7):c.430+1G>A rs1056071555
NM_000131.4(F7):c.64+4C>T rs187128791
NM_000131.4(F7):c.64+8C>T rs10482844
NM_000131.4(F7):c.64+9G>A rs6039
NM_000131.4(F7):c.681+1G>T rs769452933
NM_000131.4(F7):c.682-11C>A rs750680622
NM_000131.4(F7):c.805+3_805+6del rs754785708
NM_000131.4(F7):c.805+5G>A rs746625213
NM_000131.4(F7):c.805+7_805+43del rs1309684522
NM_000131.4(F7):c.806-10T>C rs3093266
NM_019616.4(F7):c.*1054C>A rs546634569
NM_019616.4(F7):c.*1057C>T rs141219406
NM_019616.4(F7):c.*1073A>T
NM_019616.4(F7):c.*1077del rs886050000
NM_019616.4(F7):c.*1281G>A
NM_019616.4(F7):c.*1359G>A
NM_019616.4(F7):c.*1364G>A
NM_019616.4(F7):c.*1383C>T
NM_019616.4(F7):c.*1385T>C
NM_019616.4(F7):c.*1475G>A rs3093258
NM_019616.4(F7):c.*1500_*1503del rs539395699
NM_019616.4(F7):c.*1503C>T
NM_019616.4(F7):c.*1614A>C rs577978392
NM_019616.4(F7):c.*275G>A rs886049988
NM_019616.4(F7):c.*284C>T rs750831181
NM_019616.4(F7):c.*285G>A rs577927838
NM_019616.4(F7):c.*294A>C rs886049989
NM_019616.4(F7):c.*340T>C rs545497651
NM_019616.4(F7):c.*410C>T rs139474305
NM_019616.4(F7):c.*425C>T rs886049990
NM_019616.4(F7):c.*498C>T
NM_019616.4(F7):c.*499G>A rs575689457
NM_019616.4(F7):c.*541C>T
NM_019616.4(F7):c.*543A>G rs886049991
NM_019616.4(F7):c.*550C>T
NM_019616.4(F7):c.*561_*562AT[1] rs886049992
NM_019616.4(F7):c.*582C>T rs886049993
NM_019616.4(F7):c.*605G>A rs144204350
NM_019616.4(F7):c.*620C>T rs151109093
NM_019616.4(F7):c.*628_*630del rs747160994
NM_019616.4(F7):c.*664G>A
NM_019616.4(F7):c.*672_*673CA[3] rs886049995
NM_019616.4(F7):c.*679A>C
NM_019616.4(F7):c.*703_*704AC[3] rs3093252
NM_019616.4(F7):c.*71T>A rs143748941
NM_019616.4(F7):c.*721A>G
NM_019616.4(F7):c.*756_*770delinsCCA rs886049997
NM_019616.4(F7):c.*846_*850CTTCA[1] rs886049998
NM_019616.4(F7):c.*894C>T
NM_019616.4(F7):c.*909C>T rs886049999
NM_019616.4(F7):c.*938G>A
NM_019616.4(F7):c.*985G>A
NM_019616.4(F7):c.*991G>A rs3093254
NM_019616.4(F7):c.-27C>T rs886049985
NM_019616.4(F7):c.-30A>C rs539578931
NM_019616.4(F7):c.-48C>A
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926
NM_019616.4(F7):c.103C>A (p.Arg35=) rs886049987
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927
NM_019616.4(F7):c.1048C>T (p.Gln350Ter) rs1595080617
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.1104C>T (p.Ala368=) rs6044
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936
NM_019616.4(F7):c.1219G>A (p.Ala407Thr) rs755377592
NM_019616.4(F7):c.1221A>G (p.Ala407=)
NM_019616.4(F7):c.1267G>A (p.Glu423Lys)
NM_019616.4(F7):c.1272G>A (p.Trp424Ter)
NM_019616.4(F7):c.1292C>T (p.Ser431Leu)
NM_019616.4(F7):c.1316T>C (p.Leu439Pro)
NM_019616.4(F7):c.1319G>T (p.Arg440Leu)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.152T>A (p.Leu51Gln) rs45572939
NM_019616.4(F7):c.217G>A (p.Glu73Lys) rs550453328
NM_019616.4(F7):c.219G>A (p.Glu73=) rs36208758
NM_019616.4(F7):c.220A>G (p.Arg74Gly)
NM_019616.4(F7):c.38T>C (p.Leu13Pro) rs387906507
NM_019616.4(F7):c.391A>C (p.Asn131His)
NM_019616.4(F7):c.394G>T (p.Glu132Ter)
NM_019616.4(F7):c.408T>G (p.Cys136Trp)
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790
NM_019616.4(F7):c.459C>T (p.His153=) rs6042
NM_019616.4(F7):c.481G>A (p.Asp161Asn)
NM_019616.4(F7):c.483C>T (p.Asp161=) rs6040
NM_019616.4(F7):c.499C>T (p.Pro167Ser)
NM_019616.4(F7):c.562C>T (p.Gln188Ter) rs267606790
NM_019616.4(F7):c.586G>A (p.Val196Met)
NM_019616.4(F7):c.616-7C>A
NM_019616.4(F7):c.64+941C>T
NM_019616.4(F7):c.656C>A (p.Thr219Asn) rs1160146175
NM_019616.4(F7):c.737T>C (p.Leu246Pro)
NM_019616.4(F7):c.739+7A>G rs519650
NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del) rs757743255
NM_019616.4(F7):c.783_799del (p.Arg262fs) rs786205091
NM_019616.4(F7):c.785G>A (p.Arg262Gln) rs77121822
NM_019616.4(F7):c.813G>A (p.Thr271=) rs148965964
NM_019616.4(F7):c.822G>A (p.Pro274=) rs566083695
NM_019616.4(F7):c.844G>A (p.Ala282Thr)
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931
NM_019616.4(F7):c.84A>C (p.Glu28Asp)
NM_019616.4(F7):c.917T>C (p.Phe306Ser) rs387906508
NM_019616.4(F7):c.929C>T (p.Thr310Met)
NM_019616.4(F7):c.930G>A (p.Thr310=) rs202240468
NM_019616.4(F7):c.937T>C (p.Phe313Leu) rs762858015
NM_019616.4(F7):c.940G>A (p.Val314Met)
NM_019616.4(F7):c.961G>A (p.Gly321Ser) rs1250853566
NM_019616.4(F7):c.988G>A (p.Ala330Thr) rs3093267
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567

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