ClinVar Miner

List of variants reported as likely 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: 243
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.*1146A>G rs3093255 0.04222
NM_019616.4(F7):c.*673A>G rs3093251 0.03895
NM_000504.4(F10):c.-40C>T rs3212994 0.03388
NM_019616.4(F7):c.*1275A>G rs3093257 0.03241
NM_019616.4(F7):c.*639G>A rs3093250 0.02923
NM_019616.4(F7):c.*888G>A rs79733913 0.02191
NM_000504.4(F10):c.399C>T (p.Asn133=) rs5962 0.01840
NM_019616.4(F7):c.*1649G>A rs3093259 0.01345
NM_000821.7(GGCX):c.*781A>C rs142680507 0.01337
NM_019616.4(F7):c.64+983G>A rs3093238 0.01072
NM_019616.4(F7):c.64+8C>T rs10482844 0.00989
NM_019616.4(F7):c.*533A>C rs116688254 0.00744
NM_000506.5(F2):c.1824C>T (p.Arg608=) rs3136532 0.00472
NM_000821.7(GGCX):c.*962G>C rs78372899 0.00425
NM_024006.6(VKORC1):c.129C>T (p.Cys43=) rs61742233 0.00401
NM_000821.7(GGCX):c.*1277G>A rs60864851 0.00397
NM_000504.4(F10):c.396C>T (p.Asp132=) rs111737184 0.00287
NM_000821.7(GGCX):c.189C>T (p.Ser63=) rs41290035 0.00277
NM_000821.7(GGCX):c.582C>T (p.His194=) rs76767923 0.00271
NM_019616.4(F7):c.1104C>T (p.Ala368=) rs6044 0.00216
NM_000506.5(F2):c.1298+11G>C rs144587241 0.00191
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_000821.7(GGCX):c.*4726A>C rs377381751 0.00160
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) rs61742245 0.00150
NM_000821.7(GGCX):c.*463G>A rs553383801 0.00149
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459 0.00138
NM_019616.4(F7):c.785G>A (p.Arg262Gln) rs77121822 0.00118
NM_000821.7(GGCX):c.*3067T>C rs139304933 0.00090
NM_000821.7(GGCX):c.*680G>C rs139300235 0.00090
NM_000506.5(F2):c.843C>T (p.Gly281=) rs147699032 0.00076
NM_000821.7(GGCX):c.*1916C>T rs192730155 0.00069
NM_000506.5(F2):c.1464G>A (p.Thr488=) rs146742525 0.00055
NM_024006.6(VKORC1):c.352G>C (p.Val118Leu) rs753570105 0.00036
NM_000506.5(F2):c.234G>A (p.Thr78=) rs151121282 0.00031
NM_000506.5(F2):c.495G>A (p.Thr165=) rs144857547 0.00021
NM_024006.6(VKORC1):c.*243G>A rs141753512 0.00019
NM_000821.7(GGCX):c.15C>T (p.Ala5=) rs199867398 0.00018
NM_000506.5(F2):c.1212C>T (p.Ala404=) rs148544390 0.00014
NM_000504.4(F10):c.71-8C>T rs374210821 0.00010
NM_000506.5(F2):c.317-4G>A rs375713715 0.00009
NM_000821.7(GGCX):c.*165A>G rs181695165 0.00007
NM_000821.7(GGCX):c.*2822C>T rs190959810 0.00007
NM_019616.4(F7):c.*1503C>T rs551279029 0.00007
NM_000506.5(F2):c.1815T>C (p.His605=) rs368442575 0.00006
NM_000821.7(GGCX):c.*2811T>C rs118153916 0.00006
NM_000821.7(GGCX):c.1378G>A (p.Val460Ile) rs149078813 0.00006
NM_000506.5(F2):c.978G>A (p.Pro326=) rs142949009 0.00005
NM_000506.5(F2):c.1299-10G>A rs370136934 0.00004
NM_000506.5(F2):c.180C>T (p.Cys60=) rs374353447 0.00004
NM_000506.5(F2):c.285G>A (p.Thr95=) rs147892497 0.00004
NM_000506.5(F2):c.342G>A (p.Thr114=) rs764153743 0.00004
NM_000506.5(F2):c.1298+19G>A rs753976233 0.00003
NM_000506.5(F2):c.261C>T (p.Tyr87=) rs201347110 0.00002
NM_000506.5(F2):c.882C>T (p.Ala294=) rs370819135 0.00002
NM_000506.5(F2):c.201C>T (p.Tyr67=) rs776998025 0.00001
NM_000821.7(GGCX):c.*4314T>C rs530247310 0.00001
NM_000506.5(F2):c.1003+15A>G
NM_000506.5(F2):c.1003+19G>A
NM_000506.5(F2):c.1003+19G>C
NM_000506.5(F2):c.1003+19G>T
NM_000506.5(F2):c.1004-12C>T
NM_000506.5(F2):c.1026C>T (p.Phe342=)
NM_000506.5(F2):c.1029G>A (p.Glu343=)
NM_000506.5(F2):c.1038G>A (p.Ser346=)
NM_000506.5(F2):c.1038G>T (p.Ser346=)
NM_000506.5(F2):c.105G>A (p.Arg35=)
NM_000506.5(F2):c.1080C>T (p.Ile360=)
NM_000506.5(F2):c.108G>A (p.Ser36=)
NM_000506.5(F2):c.1116C>T (p.Ile372=)
NM_000506.5(F2):c.1130+11G>A
NM_000506.5(F2):c.1130+19C>A
NM_000506.5(F2):c.1130+19C>T
NM_000506.5(F2):c.1130+20G>A
NM_000506.5(F2):c.1130+8C>T
NM_000506.5(F2):c.1130+9T>C
NM_000506.5(F2):c.1131-16C>T
NM_000506.5(F2):c.1131-18_1131-15del
NM_000506.5(F2):c.1131-9C>T
NM_000506.5(F2):c.1158C>G (p.Pro386=)
NM_000506.5(F2):c.1164G>A (p.Glu388=)
NM_000506.5(F2):c.1167G>T (p.Leu389=)
NM_000506.5(F2):c.1203C>A (p.Val401=)
NM_000506.5(F2):c.1209C>T (p.Thr403=)
NM_000506.5(F2):c.1224C>T (p.Leu408=)
NM_000506.5(F2):c.1225C>T (p.Leu409=)
NM_000506.5(F2):c.1227G>T (p.Leu409=)
NM_000506.5(F2):c.1251C>T (p.Phe417=)
NM_000506.5(F2):c.1254C>T (p.Thr418=)
NM_000506.5(F2):c.1287C>T (p.His429=)
NM_000506.5(F2):c.1298+14G>A
NM_000506.5(F2):c.1299-15T>C
NM_000506.5(F2):c.1299-17T>C
NM_000506.5(F2):c.1299-17T>G
NM_000506.5(F2):c.1299-17_1299-14del
NM_000506.5(F2):c.1299-6C>T
NM_000506.5(F2):c.1302C>T (p.Tyr434=)
NM_000506.5(F2):c.1347C>A (p.Ile449=)
NM_000506.5(F2):c.135C>T (p.Asn45=)
NM_000506.5(F2):c.1362C>T (p.Asn454=)
NM_000506.5(F2):c.1389T>C (p.Ile463=)
NM_000506.5(F2):c.1413T>C (p.Pro471=)
NM_000506.5(F2):c.1434T>C (p.Ile478=)
NM_000506.5(F2):c.1437C>T (p.His479=)
NM_000506.5(F2):c.1449G>A (p.Leu483=)
NM_000506.5(F2):c.1455C>T (p.Asp485=)
NM_000506.5(F2):c.1472+18T>C
NM_000506.5(F2):c.1473-20C>T
NM_000506.5(F2):c.1473-8C>T
NM_000506.5(F2):c.1476G>A (p.Leu492=)
NM_000506.5(F2):c.1530G>A (p.Thr510=)
NM_000506.5(F2):c.153G>A (p.Val51=)
NM_000506.5(F2):c.1542C>A (p.Asn514Lys)
NM_000506.5(F2):c.1581C>T (p.Asn527=)
NM_000506.5(F2):c.1597C>A (p.Arg533=)
NM_000506.5(F2):c.1635T>G (p.Thr545=)
NM_000506.5(F2):c.1654+17C>G
NM_000506.5(F2):c.1654+17C>T
NM_000506.5(F2):c.1654+18G>A
NM_000506.5(F2):c.1655-13G>A
NM_000506.5(F2):c.1655-17G>A
NM_000506.5(F2):c.1655-18C>T
NM_000506.5(F2):c.1662G>A (p.Lys554=)
NM_000506.5(F2):c.1668T>C (p.Asp556=)
NM_000506.5(F2):c.1678C>A (p.Arg560=)
NM_000506.5(F2):c.1704T>C (p.Ser568=)
NM_000506.5(F2):c.1707G>A (p.Gly569=)
NM_000506.5(F2):c.1716T>C (p.Phe572=)
NM_000506.5(F2):c.1725+17C>T
NM_000506.5(F2):c.1725+18C>T
NM_000506.5(F2):c.1725+19C>T
NM_000506.5(F2):c.1725+9C>T
NM_000506.5(F2):c.1726-11TTC[2]
NM_000506.5(F2):c.1726-20A>C
NM_000506.5(F2):c.174A>G (p.Arg58=)
NM_000506.5(F2):c.1761C>T (p.Ile587=)
NM_000506.5(F2):c.1791T>C (p.Asp597=) rs1592422668
NM_000506.5(F2):c.1806C>T (p.Phe602=)
NM_000506.5(F2):c.192G>A (p.Thr64=)
NM_000506.5(F2):c.192G>C (p.Thr64=)
NM_000506.5(F2):c.19T>C (p.Leu7=)
NM_000506.5(F2):c.207G>A (p.Glu69=)
NM_000506.5(F2):c.210C>T (p.Ala70=)
NM_000506.5(F2):c.213C>T (p.Phe71=)
NM_000506.5(F2):c.216G>A (p.Glu72=)
NM_000506.5(F2):c.228C>G (p.Ser76=)
NM_000506.5(F2):c.240+17C>T
NM_000506.5(F2):c.240+18G>A
NM_000506.5(F2):c.240+18G>C
NM_000506.5(F2):c.240+7C>T
NM_000506.5(F2):c.241-17C>T
NM_000506.5(F2):c.241-18C>T
NM_000506.5(F2):c.265+10G>A
NM_000506.5(F2):c.265+6dup
NM_000506.5(F2):c.265+8C>T
NM_000506.5(F2):c.265+9C>T
NM_000506.5(F2):c.279G>A (p.Ala93=)
NM_000506.5(F2):c.316+15C>T
NM_000506.5(F2):c.316+16G>A
NM_000506.5(F2):c.316+18G>A
NM_000506.5(F2):c.316+8A>C
NM_000506.5(F2):c.317-12G>C
NM_000506.5(F2):c.317-14T>C
NM_000506.5(F2):c.317-15G>A
NM_000506.5(F2):c.317-18G>A
NM_000506.5(F2):c.317-19C>T
NM_000506.5(F2):c.317-5C>T
NM_000506.5(F2):c.321C>T (p.Asn107=)
NM_000506.5(F2):c.327T>C (p.Ala109=)
NM_000506.5(F2):c.348C>T (p.Tyr116=)
NM_000506.5(F2):c.369C>T (p.Thr123=)
NM_000506.5(F2):c.393A>G (p.Leu131=)
NM_000506.5(F2):c.422+14C>T
NM_000506.5(F2):c.423-11T>G
NM_000506.5(F2):c.423-13T>A
NM_000506.5(F2):c.423-19G>T
NM_000506.5(F2):c.423-4C>G
NM_000506.5(F2):c.450C>T (p.Ala150=)
NM_000506.5(F2):c.45G>A (p.Leu15=) rs886048333
NM_000506.5(F2):c.501C>T (p.Pro167=)
NM_000506.5(F2):c.516A>C (p.Thr172=)
NM_000506.5(F2):c.522C>T (p.Pro174=)
NM_000506.5(F2):c.525C>T (p.Thr175=)
NM_000506.5(F2):c.534G>A (p.Arg178=)
NM_000506.5(F2):c.549C>A (p.Ile183=)
NM_000506.5(F2):c.559+12G>T
NM_000506.5(F2):c.559+19G>A
NM_000506.5(F2):c.560-15C>T
NM_000506.5(F2):c.560-19C>G
NM_000506.5(F2):c.560-6C>T
NM_000506.5(F2):c.560-7C>T
NM_000506.5(F2):c.582G>A (p.Ala194=)
NM_000506.5(F2):c.594C>T (p.Arg198=)
NM_000506.5(F2):c.597C>T (p.Ser199=)
NM_000506.5(F2):c.627A>G (p.Pro209=)
NM_000506.5(F2):c.648T>C (p.Asp216=)
NM_000506.5(F2):c.648T>G (p.Asp216Glu)
NM_000506.5(F2):c.669G>A (p.Gly223=)
NM_000506.5(F2):c.678G>A (p.Ala226=)
NM_000506.5(F2):c.696C>T (p.Leu232=)
NM_000506.5(F2):c.69C>T (p.His23=)
NM_000506.5(F2):c.6G>A (p.Ala2=)
NM_000506.5(F2):c.708C>T (p.Ala236=)
NM_000506.5(F2):c.717C>T (p.Ser239=)
NM_000506.5(F2):c.762T>C (p.Ala254=)
NM_000506.5(F2):c.789C>T (p.Arg263=)
NM_000506.5(F2):c.79+10T>C
NM_000506.5(F2):c.79+15G>A
NM_000506.5(F2):c.79+15G>T
NM_000506.5(F2):c.79+17A>G
NM_000506.5(F2):c.792C>T (p.Asn264=)
NM_000506.5(F2):c.80-10C>T
NM_000506.5(F2):c.80-12A>C
NM_000506.5(F2):c.80-12A>G
NM_000506.5(F2):c.80-12dup
NM_000506.5(F2):c.80-13C>G
NM_000506.5(F2):c.80-13C>T
NM_000506.5(F2):c.80-14C>T
NM_000506.5(F2):c.80-18C>A
NM_000506.5(F2):c.80-18C>G
NM_000506.5(F2):c.80-9G>A
NM_000506.5(F2):c.801G>T (p.Gly267=)
NM_000506.5(F2):c.813C>G (p.Gly271=)
NM_000506.5(F2):c.831C>T (p.Ala277=)
NM_000506.5(F2):c.843C>A (p.Gly281=)
NM_000506.5(F2):c.870T>C (p.Tyr290=)
NM_000506.5(F2):c.874+11dup
NM_000506.5(F2):c.874+16A>G
NM_000506.5(F2):c.874+20_874+35dup
NM_000506.5(F2):c.875-20C>T
NM_000506.5(F2):c.875-7C>T
NM_000506.5(F2):c.879G>A (p.Glu293=)
NM_000506.5(F2):c.933C>T (p.Ile311=)
NM_000506.5(F2):c.936A>G (p.Glu312=)
NM_000506.5(F2):c.948C>A (p.Ala316=)
NM_000506.5(F2):c.948C>T (p.Ala316=)
NM_000506.5(F2):c.984C>T (p.Thr328=)
NM_000506.5(F2):c.993G>A (p.Ser331=)
NM_000506.5(F2):c.999G>A (p.Glu333=)
NM_000821.7(GGCX):c.*1282G>A rs574843893
NM_019616.4(F7):c.*1240C>G rs3093256
NM_019616.4(F7):c.*82T>C rs368359845
NM_019616.4(F7):c.1292C>T (p.Ser431Leu) rs1490539322
NM_019616.4(F7):c.84A>C (p.Glu28Asp) rs2142212240

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.