ClinVar Miner

List of variants in gene F2 studied for congenital vitamin K-dependent coagulation factors deficiency

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 277
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HGVS dbSNP gnomAD frequency
NM_000506.5(F2):c.1726-59G>A rs3136516 0.38221
NM_000506.5(F2):c.494C>T (p.Thr165Met) rs5896 0.13207
NM_000506.5(F2):c.1233G>A (p.Pro411=) rs5898 0.06671
NM_000506.5(F2):c.480C>T (p.Pro160=) rs3136452 0.04324
NM_000506.5(F2):c.79+7G>A rs3136431 0.02419
NM_000506.5(F2):c.1602G>A (p.Pro534=) rs5900 0.01567
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000506.5(F2):c.813C>T (p.Gly271=) rs5899 0.00654
NM_000506.5(F2):c.1824C>T (p.Arg608=) rs3136532 0.00472
NM_000506.5(F2):c.1857G>A (p.Gln619=) rs113406770 0.00300
NM_000506.5(F2):c.1298+11G>C rs144587241 0.00191
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459 0.00138
NM_000506.5(F2):c.1628G>T (p.Arg543Leu) rs143064939 0.00121
NM_000506.5(F2):c.843C>T (p.Gly281=) rs147699032 0.00076
NM_000506.5(F2):c.1541A>G (p.Asn514Ser) rs144011338 0.00056
NM_000506.5(F2):c.1464G>A (p.Thr488=) rs146742525 0.00055
NM_000506.5(F2):c.191C>T (p.Thr64Met) rs142001812 0.00051
NM_000506.5(F2):c.234G>A (p.Thr78=) rs151121282 0.00031
NM_000506.5(F2):c.371G>A (p.Arg124Gln) rs139148365 0.00022
NM_000506.5(F2):c.495G>A (p.Thr165=) rs144857547 0.00021
NM_000506.5(F2):c.798C>T (p.Asp266=) rs138260543 0.00019
NM_000506.5(F2):c.1212C>T (p.Ala404=) rs148544390 0.00014
NM_000506.5(F2):c.559+5G>A rs376151472 0.00014
NM_000506.5(F2):c.*9T>G rs201577861 0.00011
NM_000506.5(F2):c.317-4G>A rs375713715 0.00009
NM_000506.5(F2):c.1815T>C (p.His605=) rs368442575 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.814G>A (p.Val272Met) rs199558597 0.00004
NM_000506.5(F2):c.992C>T (p.Ser331Leu) rs200812621 0.00004
NM_000506.5(F2):c.*44G>T rs759287343 0.00003
NM_000506.5(F2):c.1298+19G>A rs753976233 0.00003
NM_000506.5(F2):c.874+13G>A rs764029414 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_000506.3(F2):c.1054G>A (p.Glu352Lys) rs121918484 0.00001
NM_000506.3(F2):c.1381C>T (p.Arg461Trp) rs121918478 0.00001
NM_000506.5(F2):c.1037C>T (p.Ser346Leu) rs552341778 0.00001
NM_000506.5(F2):c.201C>T (p.Tyr67=) rs776998025 0.00001
NM_000506.5(F2):c.260A>G (p.Tyr87Cys) rs1227147475 0.00001
NM_000506.5(F2):c.730G>T (p.Ala244Ser) rs886048334 0.00001
NM_000506.5(F2):c.915G>A (p.Glu305=) rs886048335 0.00001
NM_000506.3(F2):c.1027G>A (p.Glu343Lys) rs121918483
NM_000506.3(F2):c.1139T>C (p.Met380Thr) rs121918481
NM_000506.3(F2):c.1273C>T (p.Arg425Cys) rs121918479
NM_000506.3(F2):c.1785C>G (p.Asp595Glu) rs121918486
NM_000506.3(F2):c.1802G>T (p.Gly601Val) rs121918480
NM_000506.3(F2):c.940C>T (p.Arg314Cys) rs121918477
NM_000506.4(F2):c.*100C>A rs112016113
NM_000506.5(F2):c.1003+15A>G
NM_000506.5(F2):c.1003+18C>T
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.1015C>T (p.Arg339Ter)
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.1070A>G (p.Glu357Gly) rs2134533215
NM_000506.5(F2):c.1080C>T (p.Ile360=)
NM_000506.5(F2):c.1088G>A (p.Arg363His)
NM_000506.5(F2):c.108G>A (p.Ser36=)
NM_000506.5(F2):c.1093G>T (p.Val365Leu)
NM_000506.5(F2):c.1094T>A (p.Val365Glu) rs747234596
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.1131-5C>T rs1255363601
NM_000506.5(F2):c.1131-9C>T
NM_000506.5(F2):c.1158C>G (p.Pro386=)
NM_000506.5(F2):c.1159C>T (p.Gln387Ter) rs2064886777
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.124C>T (p.Arg42Trp)
NM_000506.5(F2):c.1251C>T (p.Phe417=)
NM_000506.5(F2):c.1254C>T (p.Thr418=)
NM_000506.5(F2):c.1270G>A (p.Val424Met) rs1310397756
NM_000506.5(F2):c.1274G>A (p.Arg425His) rs121918485
NM_000506.5(F2):c.1277T>C (p.Ile426Thr)
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.1351C>A (p.Pro451Thr)
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.13C>T (p.Arg5Ter)
NM_000506.5(F2):c.1411C>A (p.Pro471Thr)
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.1472+9C>T rs886048336
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.1496G>A (p.Gly499Glu) rs2134537035
NM_000506.5(F2):c.1499G>A (p.Arg500Gln) rs202003146
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.1567C>T (p.Leu523=) rs886048337
NM_000506.5(F2):c.1581C>T (p.Asn527=)
NM_000506.5(F2):c.1597C>A (p.Arg533=)
NM_000506.5(F2):c.1598G>A (p.Arg533Gln) rs1361766713
NM_000506.5(F2):c.1621C>A (p.Arg541=) rs886048338
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.1678C>T (p.Arg560Ter)
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.1745G>A (p.Trp582Ter)
NM_000506.5(F2):c.174A>G (p.Arg58=)
NM_000506.5(F2):c.1761C>T (p.Ile587=)
NM_000506.5(F2):c.1786C>T (p.Arg596Trp)
NM_000506.5(F2):c.1787G>A (p.Arg596Gln) rs387907201
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.349C>T (p.Arg117Ter)
NM_000506.5(F2):c.369C>T (p.Thr123=)
NM_000506.5(F2):c.392dup (p.Trp132fs)
NM_000506.5(F2):c.393A>G (p.Leu131=)
NM_000506.5(F2):c.422+14C>T
NM_000506.5(F2):c.422+1G>A
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.423-7G>C rs2070852
NM_000506.5(F2):c.450C>T (p.Ala150=)
NM_000506.5(F2):c.45G>A (p.Leu15=) rs886048333
NM_000506.5(F2):c.462_463insT (p.Asn155Ter) rs387906522
NM_000506.5(F2):c.501C>T (p.Pro167=)
NM_000506.5(F2):c.516A>C (p.Thr172=)
NM_000506.5(F2):c.517G>C (p.Asp173His)
NM_000506.5(F2):c.522C>T (p.Pro174=)
NM_000506.5(F2):c.525C>T (p.Thr175=)
NM_000506.5(F2):c.533G>T (p.Arg178Met) rs2134528259
NM_000506.5(F2):c.534G>A (p.Arg178=)
NM_000506.5(F2):c.549C>A (p.Ile183=)
NM_000506.5(F2):c.558T>C (p.Cys186=)
NM_000506.5(F2):c.559+12G>T
NM_000506.5(F2):c.559+19G>A
NM_000506.5(F2):c.559+20G>T
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.607A>G (p.Ser203Gly) rs2064868698
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.650G>A (p.Arg217Gln)
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.80-13dup
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.875-19G>A
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.923_926del (p.Asp308fs)
NM_000506.5(F2):c.933C>T (p.Ile311=)
NM_000506.5(F2):c.934G>A (p.Glu312Lys)
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.954T>G (p.Ser318Arg) rs2134532792
NM_000506.5(F2):c.954dup (p.Glu319Ter)
NM_000506.5(F2):c.984C>T (p.Thr328=)
NM_000506.5(F2):c.993G>A (p.Ser331=)
NM_000506.5(F2):c.995G>C (p.Gly332Ala) rs2134532862
NM_000506.5(F2):c.999G>A (p.Glu333=)

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