ClinVar Miner

List of variants reported as benign for congenital vitamin K-dependent coagulation factors deficiency

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000504.4(F10):c.865+33A>G rs2031184 0.93642
NM_000504.4(F10):c.232-17T>C rs2251102 0.79208
NM_000504.4(F10):c.792C>T (p.Thr264=) rs5960 0.72493
NM_000821.7(GGCX):c.*3996T>C rs12473819 0.55548
NM_000821.7(GGCX):c.*2381C>T rs6547621 0.52266
NM_000821.7(GGCX):c.*4509G>A rs7605975 0.52251
NM_000821.7(GGCX):c.974G>A (p.Arg325Gln) rs699664 0.41038
NM_024006.6(VKORC1):c.*134G>A rs7294 0.39850
NM_000506.5(F2):c.1726-59G>A rs3136516 0.38221
NM_000821.7(GGCX):c.1218C>T (p.Arg406=) rs2592551 0.30130
NM_000821.7(GGCX):c.*3398T>C rs35416445 0.30037
NM_019616.4(F7):c.64+9G>A rs6039 0.15932
NM_000506.5(F2):c.494C>T (p.Thr165Met) rs5896 0.13207
NM_000821.7(GGCX):c.*3805A>G rs12470957 0.12606
NM_000821.7(GGCX):c.*3752G>A rs72643495 0.12184
NM_019616.4(F7):c.459C>T (p.His153=) rs6042 0.12147
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) rs6046 0.11103
NM_000821.7(GGCX):c.*1049T>A rs13406935 0.11064
NM_000821.7(GGCX):c.*4429G>A rs62165899 0.11060
NM_000821.7(GGCX):c.1242C>T (p.Thr414=) rs10179904 0.11053
NM_019616.4(F7):c.*770G>A rs3093253 0.10963
NM_000821.7(GGCX):c.*3047G>A rs34669893 0.10244
NM_000821.7(GGCX):c.*3416G>A rs6704863 0.08578
NM_000821.7(GGCX):c.*3071T>C rs72843835 0.07788
NM_000821.7(GGCX):c.*2974G>A rs72843836 0.07770
NM_000506.5(F2):c.1233G>A (p.Pro411=) rs5898 0.06671
NM_000821.7(GGCX):c.*225G>A rs72843839 0.06084
NM_024006.6(VKORC1):c.358C>T (p.Leu120=) rs7200749 0.05999
NM_000821.7(GGCX):c.339C>T (p.Asp113=) rs6751560 0.04827
NM_000506.5(F2):c.480C>T (p.Pro160=) rs3136452 0.04324
NM_000821.7(GGCX):c.*2949C>T rs76606353 0.03766
NM_000821.7(GGCX):c.*3875C>T rs58540395 0.02955
NM_000821.7(GGCX):c.*902T>C rs6723678 0.02953
NM_000821.7(GGCX):c.*1965G>T rs113958713 0.02948
NM_000821.7(GGCX):c.*3431C>T rs72940569 0.02772
NM_000504.4(F10):c.574G>A (p.Gly192Arg) rs3211783 0.02730
NM_000506.5(F2):c.79+7G>A rs3136431 0.02419
NM_000821.7(GGCX):c.*4579G>A rs138686161 0.01846
NM_000506.5(F2):c.1602G>A (p.Pro534=) rs5900 0.01567
NM_000821.7(GGCX):c.1494C>T (p.Arg498=) rs41290033 0.01507
NM_000504.4(F10):c.90G>C (p.Gln30His) rs5961 0.01285
NM_019616.4(F7):c.219G>A (p.Glu73=) rs36208758 0.01020
NM_000821.7(GGCX):c.*3053A>G rs150020679 0.00896
NM_000821.7(GGCX):c.1806C>G (p.Val602=) rs143538795 0.00758
NM_000506.5(F2):c.813C>T (p.Gly271=) rs5899 0.00654
NM_000504.4(F10):c.111G>A (p.Arg37=) rs115112448 0.00649
NM_000506.5(F2):c.1824C>T (p.Arg608=) rs3136532 0.00472
NM_019616.4(F7):c.*620C>T rs151109093 0.00308
NM_000506.5(F2):c.1857G>A (p.Gln619=) rs113406770 0.00300
NM_000506.5(F2):c.1298+11G>C rs144587241 0.00191
NM_000821.7(GGCX):c.91G>A (p.Asp31Asn) rs74843621 0.00126
NM_000506.5(F2):c.1628G>T (p.Arg543Leu) rs143064939 0.00121
NM_024006.6(VKORC1):c.196G>A (p.Val66Met) rs72547529 0.00086
NM_000506.5(F2):c.843C>T (p.Gly281=) rs147699032 0.00076
NM_019616.4(F7):c.483C>T (p.Asp161=) rs6040 0.00046
NM_000506.5(F2):c.798C>T (p.Asp266=) rs138260543 0.00019
NM_000821.7(GGCX):c.*4840T>C rs149495444 0.00019
NM_024006.6(VKORC1):c.203A>G (p.His68Arg) rs201044348 0.00015
NM_019616.4(F7):c.64+941C>T rs189409610 0.00006
NM_000821.7(GGCX):c.*3606G>A rs535142816 0.00004
NM_000504.4(F10):c.1115G>C (p.Arg372Pro) rs142699098
NM_000506.5(F2):c.1003+18C>T
NM_000506.5(F2):c.423-7G>C rs2070852
NM_000506.5(F2):c.559+20G>T
NM_000506.5(F2):c.80-13dup
NM_000506.5(F2):c.875-19G>A
NM_000821.7(GGCX):c.*1727A>T rs114386392
NM_024006.6(VKORC1):c.36G>A (p.Arg12=) rs55894764

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