ClinVar Miner

List of variants reported as likely benign for congenital factor V deficiency by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 444
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.4035A>G (p.Gln1345=) rs886045547 0.00377
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg) rs6679078 0.00271
NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr) rs150104888 0.00246
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp) rs149026031 0.00216
NM_000130.5(F5):c.106G>A (p.Val36Met) rs147487854 0.00150
NM_000130.5(F5):c.2939G>T (p.Arg980Leu) rs9332605 0.00143
NM_000130.5(F5):c.3851C>T (p.Thr1284Ile) rs139573207 0.00142
NM_000130.5(F5):c.2222A>G (p.Asn741Ser) rs144979314 0.00140
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala) rs6007 0.00140
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00113
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro) rs144262027 0.00081
NM_000130.5(F5):c.5431A>T (p.Met1811Leu) rs138877178 0.00074
NM_000130.5(F5):c.3211C>T (p.His1071Tyr) rs146408488 0.00062
NM_000130.5(F5):c.5589C>A (p.Pro1863=) rs148772659 0.00061
NM_000130.5(F5):c.1086C>T (p.Asp362=) rs147952496 0.00058
NM_000130.5(F5):c.2752C>T (p.Pro918Ser) rs149389480 0.00054
NM_000130.5(F5):c.885C>T (p.Thr295=) rs148752831 0.00048
NM_000130.5(F5):c.1391C>T (p.Thr464Ile) rs141768227 0.00038
NM_000130.5(F5):c.4835A>T (p.Asp1612Val) rs141589936 0.00035
NM_000130.5(F5):c.1181T>C (p.Val394Ala) rs142875000 0.00030
NM_000130.5(F5):c.1158A>G (p.Gln386=) rs148623862 0.00029
NM_000130.5(F5):c.5490G>A (p.Leu1830=) rs149092241 0.00029
NM_000130.5(F5):c.2806C>G (p.Gln936Glu) rs138086769 0.00027
NM_000130.5(F5):c.2835G>A (p.Gly945=) rs370927080 0.00026
NM_000130.5(F5):c.996A>C (p.Lys332Asn) rs143509841 0.00026
NM_000130.5(F5):c.2868T>C (p.Tyr956=) rs149067268 0.00025
NM_000130.5(F5):c.2864G>T (p.Ser955Ile) rs199507543 0.00021
NM_000130.5(F5):c.5124C>T (p.Tyr1708=) rs199568344 0.00019
NM_000130.5(F5):c.1297-13T>C rs372389170 0.00018
NM_000130.5(F5):c.6402G>A (p.Thr2134=) rs144486119 0.00017
NM_000130.5(F5):c.4346C>T (p.Pro1449Leu) rs113768654 0.00016
NM_000130.5(F5):c.4641T>C (p.Asp1547=) rs138504020 0.00016
NM_000130.5(F5):c.4972-14A>C rs763080313 0.00016
NM_000130.5(F5):c.524A>G (p.His175Arg) rs201510575 0.00016
NM_000130.5(F5):c.628C>A (p.Gln210Lys) rs144937515 0.00016
NM_000130.5(F5):c.6600T>C (p.Phe2200=) rs142201768 0.00015
NM_000130.5(F5):c.3039G>A (p.Gln1013=) rs769936831 0.00014
NM_000130.5(F5):c.3221A>G (p.Asn1074Ser) rs200269019 0.00014
NM_000130.5(F5):c.3243C>T (p.Asp1081=) rs140281633 0.00014
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala) rs200204656 0.00014
NM_000130.5(F5):c.4145C>A (p.Thr1382Lys) rs775712769 0.00013
NM_000130.5(F5):c.4347G>A (p.Pro1449=) rs145732153 0.00013
NM_000130.5(F5):c.4056C>T (p.Leu1352=) rs549332286 0.00011
NM_000130.5(F5):c.1374A>G (p.Glu458=) rs150708584 0.00010
NM_000130.5(F5):c.2037C>G (p.Phe679Leu) rs374118662 0.00010
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg) rs146312772 0.00010
NM_000130.5(F5):c.3257T>C (p.Leu1086Ser) rs116407347 0.00008
NM_000130.5(F5):c.1106C>T (p.Ala369Val) rs200934105 0.00006
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro) rs369276714 0.00006
NM_000130.5(F5):c.1033C>T (p.Arg345Trp) rs746260106 0.00005
NM_000130.5(F5):c.1300G>A (p.Val434Met) rs574610215 0.00005
NM_000130.5(F5):c.165T>C (p.Asn55=) rs781434840 0.00005
NM_000130.5(F5):c.3801T>C (p.Leu1267=) rs559683767 0.00005
NM_000130.5(F5):c.5262A>T (p.Gly1754=) rs759827034 0.00005
NM_000130.5(F5):c.2383C>G (p.Gln795Glu) rs374379051 0.00004
NM_000130.5(F5):c.3446C>T (p.Ser1149Phe) rs559098136 0.00004
NM_000130.5(F5):c.586+11C>A rs199638362 0.00004
NM_000130.5(F5):c.1034G>A (p.Arg345Gln) rs201078171 0.00003
NM_000130.5(F5):c.738A>G (p.Thr246=) rs375739973 0.00003
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu) rs373880789 0.00002
NM_000130.5(F5):c.3702C>T (p.Asp1234=) rs368295218 0.00002
NM_000130.5(F5):c.4632G>T (p.Val1544=) rs780992775 0.00002
NM_000130.5(F5):c.1545C>T (p.Ile515=) rs886045551 0.00001
NM_000130.5(F5):c.3255A>C (p.Thr1085=) rs6006 0.00001
NM_000130.5(F5):c.3810C>G (p.Ala1270=) rs781657137 0.00001
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys) rs538359973 0.00001
NM_000130.5(F5):c.4158A>C (p.Pro1386=) rs772368983 0.00001
NM_000130.5(F5):c.417C>T (p.Asp139=) rs749722664 0.00001
NM_000130.5(F5):c.5001G>A (p.Pro1667=) rs747456938 0.00001
NM_000130.5(F5):c.5788+4A>T rs759428783 0.00001
NM_000130.5(F5):c.5976G>A (p.Glu1992=) rs915397925 0.00001
NM_000130.5(F5):c.6360G>A (p.Lys2120=) rs757104503 0.00001
NM_000130.5(F5):c.6606T>A (p.Arg2202=) rs368496361 0.00001
NM_000130.5(F5):c.1002G>A (p.Arg334=)
NM_000130.5(F5):c.1014A>G (p.Lys338=)
NM_000130.5(F5):c.1029G>A (p.Gln343=)
NM_000130.5(F5):c.1089T>C (p.Tyr363=)
NM_000130.5(F5):c.108G>A (p.Val36=)
NM_000130.5(F5):c.1107G>A (p.Ala369=)
NM_000130.5(F5):c.1118+12G>C
NM_000130.5(F5):c.1118+13G>A
NM_000130.5(F5):c.1118+18A>G
NM_000130.5(F5):c.1119-11T>C
NM_000130.5(F5):c.1119-12C>T
NM_000130.5(F5):c.1119-9C>A
NM_000130.5(F5):c.111T>A (p.Ala37=) rs537081933
NM_000130.5(F5):c.112G>T (p.Ala38Ser)
NM_000130.5(F5):c.1137T>C (p.His379=)
NM_000130.5(F5):c.1197C>T (p.Tyr399=)
NM_000130.5(F5):c.120C>A (p.Gly40=)
NM_000130.5(F5):c.1224A>G (p.Thr408=)
NM_000130.5(F5):c.1296+10A>C
NM_000130.5(F5):c.1296+12A>C
NM_000130.5(F5):c.1296+13A>G
NM_000130.5(F5):c.1297-20A>C
NM_000130.5(F5):c.1297-4G>T
NM_000130.5(F5):c.1305C>T (p.Phe435=)
NM_000130.5(F5):c.1317C>G (p.Ala439=)
NM_000130.5(F5):c.1359G>A (p.Ser453=)
NM_000130.5(F5):c.1365T>C (p.Tyr455=)
NM_000130.5(F5):c.136C>A (p.Arg46=)
NM_000130.5(F5):c.136C>G (p.Arg46Gly)
NM_000130.5(F5):c.1396+18C>G
NM_000130.5(F5):c.1396+18del
NM_000130.5(F5):c.1397-20T>C
NM_000130.5(F5):c.1449T>C (p.Tyr483=)
NM_000130.5(F5):c.1464A>G (p.Leu488=)
NM_000130.5(F5):c.1512A>G (p.Pro504=)
NM_000130.5(F5):c.1521T>C (p.Ser507=)
NM_000130.5(F5):c.1524C>T (p.Asp508=)
NM_000130.5(F5):c.1538_1539delinsAG (p.Arg513Lys)
NM_000130.5(F5):c.1563A>G (p.Gly521=)
NM_000130.5(F5):c.156A>G (p.Ser52=)
NM_000130.5(F5):c.1575C>T (p.Ile525=)
NM_000130.5(F5):c.158+16A>C
NM_000130.5(F5):c.158+19C>T
NM_000130.5(F5):c.158+8A>C rs1571608314
NM_000130.5(F5):c.159-15G>A
NM_000130.5(F5):c.159-8A>T
NM_000130.5(F5):c.1611+13T>A
NM_000130.5(F5):c.1611+15A>G
NM_000130.5(F5):c.1611+17G>A
NM_000130.5(F5):c.1612-10T>C
NM_000130.5(F5):c.1612-15T>C
NM_000130.5(F5):c.1612-16C>A
NM_000130.5(F5):c.1626C>T (p.Ile542=)
NM_000130.5(F5):c.1662C>T (p.Asn554=)
NM_000130.5(F5):c.1665A>G (p.Lys555=)
NM_000130.5(F5):c.171T>C (p.Ser57=)
NM_000130.5(F5):c.1737G>A (p.Lys579=)
NM_000130.5(F5):c.1763-10A>G
NM_000130.5(F5):c.1763-15A>T
NM_000130.5(F5):c.1763-16G>C
NM_000130.5(F5):c.1763-9C>T
NM_000130.5(F5):c.1770T>C (p.Asn590=)
NM_000130.5(F5):c.1773C>T (p.Gly591=)
NM_000130.5(F5):c.1776T>C (p.Tyr592=)
NM_000130.5(F5):c.1788C>T (p.Ser596=)
NM_000130.5(F5):c.1797T>C (p.Thr599=)
NM_000130.5(F5):c.1833C>T (p.His611=)
NM_000130.5(F5):c.1842T>C (p.Ser614=)
NM_000130.5(F5):c.1854G>A (p.Gln618=)
NM_000130.5(F5):c.1869C>T (p.Thr623=)
NM_000130.5(F5):c.1911T>C (p.His637=)
NM_000130.5(F5):c.1920C>T (p.Thr640=)
NM_000130.5(F5):c.1944A>G (p.Gly648=)
NM_000130.5(F5):c.1956G>A (p.Thr652=)
NM_000130.5(F5):c.1956G>C (p.Thr652=)
NM_000130.5(F5):c.1971T>C (p.Asn657=)
NM_000130.5(F5):c.1975+10A>G
NM_000130.5(F5):c.1975+14T>C
NM_000130.5(F5):c.1975+19A>G
NM_000130.5(F5):c.1975+20C>T
NM_000130.5(F5):c.1976-15G>A
NM_000130.5(F5):c.2025G>A (p.Leu675=)
NM_000130.5(F5):c.2029C>T (p.Leu677=)
NM_000130.5(F5):c.2067T>C (p.Asp689=)
NM_000130.5(F5):c.2076A>G (p.Ser692=)
NM_000130.5(F5):c.2119C>A (p.Arg707=)
NM_000130.5(F5):c.2136T>A (p.Arg712=)
NM_000130.5(F5):c.2136T>C (p.Arg712=)
NM_000130.5(F5):c.2157G>A (p.Glu719=)
NM_000130.5(F5):c.21C>T (p.Arg7=)
NM_000130.5(F5):c.2200T>C (p.Leu734=)
NM_000130.5(F5):c.2218C>A (p.Arg740=)
NM_000130.5(F5):c.2226A>G (p.Ser742=)
NM_000130.5(F5):c.2248_2250del (p.Glu750del)
NM_000130.5(F5):c.2292C>T (p.Phe764=)
NM_000130.5(F5):c.2313A>T (p.Ile771=)
NM_000130.5(F5):c.2364C>G (p.Val788=)
NM_000130.5(F5):c.2364C>T (p.Val788=)
NM_000130.5(F5):c.2391C>T (p.Ala797=)
NM_000130.5(F5):c.2397T>A (p.Ser799=)
NM_000130.5(F5):c.240T>C (p.Ser80=)
NM_000130.5(F5):c.243C>A (p.Thr81=)
NM_000130.5(F5):c.2490A>G (p.Pro830=)
NM_000130.5(F5):c.250+10A>C
NM_000130.5(F5):c.250+13T>G
NM_000130.5(F5):c.250+18T>C
NM_000130.5(F5):c.251-17A>C
NM_000130.5(F5):c.2511G>A (p.Glu837=)
NM_000130.5(F5):c.2532C>T (p.Val844=)
NM_000130.5(F5):c.2538G>A (p.Gly846=)
NM_000130.5(F5):c.2631G>A (p.Lys877=)
NM_000130.5(F5):c.264T>C (p.Pro88=)
NM_000130.5(F5):c.2658A>G (p.Leu886=)
NM_000130.5(F5):c.2691C>T (p.Asp897=)
NM_000130.5(F5):c.2706C>T (p.Ser902=)
NM_000130.5(F5):c.2754T>A (p.Pro918=)
NM_000130.5(F5):c.2793G>A (p.Leu931=)
NM_000130.5(F5):c.2799C>T (p.Leu933=)
NM_000130.5(F5):c.282C>T (p.Val94=)
NM_000130.5(F5):c.2838A>G (p.Arg946=)
NM_000130.5(F5):c.2859A>G (p.Lys953=)
NM_000130.5(F5):c.2883T>C (p.Asp961=)
NM_000130.5(F5):c.288C>T (p.Asp96=)
NM_000130.5(F5):c.2898A>G (p.Thr966=)
NM_000130.5(F5):c.2925C>G (p.Pro975=)
NM_000130.5(F5):c.2943T>C (p.Ala981=)
NM_000130.5(F5):c.3000G>A (p.Lys1000=)
NM_000130.5(F5):c.3027A>G (p.Leu1009=)
NM_000130.5(F5):c.3072G>A (p.Gln1024=)
NM_000130.5(F5):c.3078C>G (p.Leu1026=)
NM_000130.5(F5):c.3081T>C (p.Ile1027=)
NM_000130.5(F5):c.3084G>A (p.Lys1028=)
NM_000130.5(F5):c.3087A>G (p.Thr1029=)
NM_000130.5(F5):c.3105G>A (p.Glu1035=)
NM_000130.5(F5):c.3120T>C (p.His1040=) rs1571574660
NM_000130.5(F5):c.3135G>A (p.Pro1045=) rs760055896
NM_000130.5(F5):c.3165C>A (p.Ala1055=)
NM_000130.5(F5):c.3168C>T (p.Tyr1056=)
NM_000130.5(F5):c.3195G>A (p.Lys1065=)
NM_000130.5(F5):c.3201G>A (p.Ser1067=)
NM_000130.5(F5):c.3252G>A (p.Gln1084=)
NM_000130.5(F5):c.3255A>G (p.Thr1085=)
NM_000130.5(F5):c.3288A>G (p.Ser1096=) rs1571574424
NM_000130.5(F5):c.3387A>C (p.Thr1129=)
NM_000130.5(F5):c.33G>T (p.Leu11=)
NM_000130.5(F5):c.3423T>A (p.Thr1141=)
NM_000130.5(F5):c.3456G>A (p.Glu1152=)
NM_000130.5(F5):c.3483A>G (p.Arg1161=)
NM_000130.5(F5):c.3495C>G (p.Ser1165=)
NM_000130.5(F5):c.3531A>T (p.Ser1177=)
NM_000130.5(F5):c.3552A>G (p.Thr1184=)
NM_000130.5(F5):c.3582C>G (p.Thr1194=)
NM_000130.5(F5):c.3582C>T (p.Thr1194=)
NM_000130.5(F5):c.3585C>G (p.Leu1195=)
NM_000130.5(F5):c.3618A>G (p.Pro1206=)
NM_000130.5(F5):c.3621C>T (p.Asp1207=)
NM_000130.5(F5):c.3624C>G (p.Leu1208=)
NM_000130.5(F5):c.3624C>T (p.Leu1208=)
NM_000130.5(F5):c.3663C>T (p.Asn1221=)
NM_000130.5(F5):c.3678C>T (p.Leu1226=)
NM_000130.5(F5):c.3690C>T (p.Pro1230=)
NM_000130.5(F5):c.373+16T>C
NM_000130.5(F5):c.3739A>G (p.Thr1247Ala)
NM_000130.5(F5):c.374-19A>T
NM_000130.5(F5):c.3768A>G (p.Thr1256=)
NM_000130.5(F5):c.3771C>T (p.Asn1257=)
NM_000130.5(F5):c.378T>C (p.Ala126=)
NM_000130.5(F5):c.3813C>G (p.Leu1271=)
NM_000130.5(F5):c.3824C>T (p.Pro1275Leu)
NM_000130.5(F5):c.3825C>G (p.Pro1275=)
NM_000130.5(F5):c.3840C>T (p.Leu1280=)
NM_000130.5(F5):c.3852C>A (p.Thr1284=)
NM_000130.5(F5):c.3909C>G (p.Leu1303=)
NM_000130.5(F5):c.3909C>T (p.Leu1303=)
NM_000130.5(F5):c.3936T>C (p.Leu1312=)
NM_000130.5(F5):c.3942A>G (p.Pro1314=)
NM_000130.5(F5):c.3951T>C (p.Gly1317=)
NM_000130.5(F5):c.396A>T (p.Thr132=)
NM_000130.5(F5):c.3987C>A (p.Thr1329=)
NM_000130.5(F5):c.3987C>T (p.Thr1329=)
NM_000130.5(F5):c.399C>T (p.Phe133=)
NM_000130.5(F5):c.4020T>C (p.Ser1340=)
NM_000130.5(F5):c.4023A>T (p.Pro1341=)
NM_000130.5(F5):c.402T>C (p.Pro134=)
NM_000130.5(F5):c.404C>T (p.Ala135Val)
NM_000130.5(F5):c.404_405delinsTA (p.Ala135Val)
NM_000130.5(F5):c.4125C>G (p.Leu1375=)
NM_000130.5(F5):c.4143G>A (p.Gln1381=)
NM_000130.5(F5):c.4146A>T (p.Thr1382=)
NM_000130.5(F5):c.4161C>T (p.Asp1387=)
NM_000130.5(F5):c.4179C>T (p.Leu1393=)
NM_000130.5(F5):c.4206T>C (p.Leu1402=)
NM_000130.5(F5):c.420C>T (p.Asp140=)
NM_000130.5(F5):c.4218C>T (p.Leu1406=)
NM_000130.5(F5):c.4242C>T (p.Asp1414=) rs759737015
NM_000130.5(F5):c.4269C>T (p.Asn1423=)
NM_000130.5(F5):c.4290C>T (p.Ser1430=)
NM_000130.5(F5):c.4371T>C (p.Pro1457=)
NM_000130.5(F5):c.4410T>C (p.Ser1470=)
NM_000130.5(F5):c.4437T>C (p.Asn1479=)
NM_000130.5(F5):c.444C>T (p.Tyr148=)
NM_000130.5(F5):c.4452T>C (p.Tyr1484=)
NM_000130.5(F5):c.4476T>C (p.Ser1492=)
NM_000130.5(F5):c.4494C>T (p.Leu1498=)
NM_000130.5(F5):c.4497T>C (p.Asn1499=)
NM_000130.5(F5):c.4509A>G (p.Leu1503=)
NM_000130.5(F5):c.4528C>T (p.Leu1510=)
NM_000130.5(F5):c.4554T>C (p.Asp1518=)
NM_000130.5(F5):c.4590G>A (p.Glu1530=)
NM_000130.5(F5):c.4596G>A (p.Gln1532=)
NM_000130.5(F5):c.4599C>T (p.Ser1533=)
NM_000130.5(F5):c.4638T>C (p.Tyr1546=)
NM_000130.5(F5):c.4656T>C (p.Thr1552=)
NM_000130.5(F5):c.4662T>C (p.Val1554=)
NM_000130.5(F5):c.4695C>T (p.Asp1565=)
NM_000130.5(F5):c.4755T>A (p.Ala1585=)
NM_000130.5(F5):c.4796+11T>G
NM_000130.5(F5):c.4796+15C>T
NM_000130.5(F5):c.4796+17C>T
NM_000130.5(F5):c.4797-12T>C
NM_000130.5(F5):c.4797-13A>G
NM_000130.5(F5):c.4797-17T>C
NM_000130.5(F5):c.4797-8T>G
NM_000130.5(F5):c.4813G>C (p.Asp1605His)
NM_000130.5(F5):c.4836T>C (p.Asp1612=)
NM_000130.5(F5):c.4872C>T (p.Leu1624=)
NM_000130.5(F5):c.492C>T (p.Asp164=)
NM_000130.5(F5):c.4971+10T>C
NM_000130.5(F5):c.4971+17C>G
NM_000130.5(F5):c.4992A>T (p.Ala1664=)
NM_000130.5(F5):c.504C>T (p.Leu168=)
NM_000130.5(F5):c.5058T>C (p.Tyr1686=)
NM_000130.5(F5):c.5094T>C (p.Asn1698=)
NM_000130.5(F5):c.5100T>C (p.Val1700=)
NM_000130.5(F5):c.510C>T (p.His170=)
NM_000130.5(F5):c.5112C>T (p.Ser1704=)
NM_000130.5(F5):c.5142G>A (p.Glu1714=)
NM_000130.5(F5):c.5151G>T (p.Gly1717=)
NM_000130.5(F5):c.5208+10T>C
NM_000130.5(F5):c.5208+14T>C
NM_000130.5(F5):c.5208+16G>C
NM_000130.5(F5):c.5209-10G>C
NM_000130.5(F5):c.5209-13T>C
NM_000130.5(F5):c.5209-20A>T
NM_000130.5(F5):c.5220T>C (p.Ile1740=)
NM_000130.5(F5):c.5316A>C (p.Leu1772=)
NM_000130.5(F5):c.5325C>T (p.Thr1775=)
NM_000130.5(F5):c.537C>T (p.Ile179=)
NM_000130.5(F5):c.5419+19G>C
NM_000130.5(F5):c.5419+7T>C
NM_000130.5(F5):c.5420-14C>G
NM_000130.5(F5):c.5454G>C (p.Leu1818=)
NM_000130.5(F5):c.5511A>G (p.Gln1837=)
NM_000130.5(F5):c.5520C>T (p.His1840=)
NM_000130.5(F5):c.552G>A (p.Ser184=)
NM_000130.5(F5):c.5535C>T (p.His1845=)
NM_000130.5(F5):c.5544C>T (p.Thr1848=)
NM_000130.5(F5):c.5571C>T (p.His1857=)
NM_000130.5(F5):c.5599+15A>G
NM_000130.5(F5):c.5601T>C (p.Gly1867=)
NM_000130.5(F5):c.5628A>G (p.Ala1876=)
NM_000130.5(F5):c.5649C>T (p.Leu1883=)
NM_000130.5(F5):c.564G>A (p.Gly188=)
NM_000130.5(F5):c.5650C>T (p.Leu1884=)
NM_000130.5(F5):c.5652A>C (p.Leu1884=)
NM_000130.5(F5):c.5658A>C (p.Thr1886=)
NM_000130.5(F5):c.5673C>G (p.Asn1891Lys)
NM_000130.5(F5):c.5716+10G>A
NM_000130.5(F5):c.5716+16T>C
NM_000130.5(F5):c.5716+20A>G
NM_000130.5(F5):c.5717-13_5717-12del
NM_000130.5(F5):c.5717-14T>C
NM_000130.5(F5):c.5717-20T>C
NM_000130.5(F5):c.5717-4A>C
NM_000130.5(F5):c.5737C>T (p.Leu1913=)
NM_000130.5(F5):c.573T>C (p.Leu191=)
NM_000130.5(F5):c.5835T>C (p.Tyr1945=)
NM_000130.5(F5):c.586+12C>T
NM_000130.5(F5):c.586+15A>G
NM_000130.5(F5):c.586+15del
NM_000130.5(F5):c.587-12T>C
NM_000130.5(F5):c.587-16G>A
NM_000130.5(F5):c.587-16_587-15del
NM_000130.5(F5):c.587-19C>T
NM_000130.5(F5):c.587-5C>G
NM_000130.5(F5):c.587-5C>T
NM_000130.5(F5):c.587-8T>C
NM_000130.5(F5):c.5892+11A>C
NM_000130.5(F5):c.5893-17G>A
NM_000130.5(F5):c.5893-5T>G
NM_000130.5(F5):c.5982T>C (p.Tyr1994=)
NM_000130.5(F5):c.6049-14C>T
NM_000130.5(F5):c.6066A>G (p.Ser2022=)
NM_000130.5(F5):c.6117A>G (p.Arg2039=)
NM_000130.5(F5):c.612G>A (p.Gln204=)
NM_000130.5(F5):c.6150C>T (p.Asn2050=)
NM_000130.5(F5):c.6171A>G (p.Glu2057=)
NM_000130.5(F5):c.618G>A (p.Thr206=)
NM_000130.5(F5):c.6193+11A>G
NM_000130.5(F5):c.6193+15T>C
NM_000130.5(F5):c.6193+15T>G
NM_000130.5(F5):c.6193+19T>C
NM_000130.5(F5):c.6194-19G>A
NM_000130.5(F5):c.6194-20C>T
NM_000130.5(F5):c.6258G>A (p.Ser2086=)
NM_000130.5(F5):c.6285C>T (p.Tyr2095=)
NM_000130.5(F5):c.6294C>T (p.Pro2098=)
NM_000130.5(F5):c.6303C>G (p.Ala2101=)
NM_000130.5(F5):c.6312T>C (p.Asn2104=)
NM_000130.5(F5):c.633C>T (p.Ile211=)
NM_000130.5(F5):c.6345+11C>G
NM_000130.5(F5):c.6345+13C>G
NM_000130.5(F5):c.6345+13C>T
NM_000130.5(F5):c.6345+9T>C
NM_000130.5(F5):c.6346-4A>G
NM_000130.5(F5):c.6346-5C>T
NM_000130.5(F5):c.6346-9T>C
NM_000130.5(F5):c.636G>A (p.Val212=)
NM_000130.5(F5):c.6381A>G (p.Leu2127=)
NM_000130.5(F5):c.6396G>A (p.Lys2132=)
NM_000130.5(F5):c.639A>G (p.Leu213=)
NM_000130.5(F5):c.6417G>A (p.Gln2139=)
NM_000130.5(F5):c.6435C>A (p.Ser2145=)
NM_000130.5(F5):c.6435C>T (p.Ser2145=)
NM_000130.5(F5):c.6438T>C (p.Ser2146=)
NM_000130.5(F5):c.6489A>G (p.Glu2163=)
NM_000130.5(F5):c.6504G>A (p.Arg2168=)
NM_000130.5(F5):c.6516C>T (p.Ser2172=)
NM_000130.5(F5):c.6528+17G>T
NM_000130.5(F5):c.6528+9G>A
NM_000130.5(F5):c.6529-11T>C
NM_000130.5(F5):c.6529-12T>C
NM_000130.5(F5):c.6579C>T (p.Asn2193=)
NM_000130.5(F5):c.6645C>T (p.Arg2215=)
NM_000130.5(F5):c.6660C>T (p.Gly2220=)
NM_000130.5(F5):c.681A>G (p.Ser227=)
NM_000130.5(F5):c.702C>T (p.Val234=)
NM_000130.5(F5):c.705T>C (p.Asn235=)
NM_000130.5(F5):c.708A>T (p.Gly236=)
NM_000130.5(F5):c.711T>C (p.Tyr237=)
NM_000130.5(F5):c.72A>G (p.Gln24=)
NM_000130.5(F5):c.730+15G>T
NM_000130.5(F5):c.730+8G>A
NM_000130.5(F5):c.731-11C>T
NM_000130.5(F5):c.731-13C>T
NM_000130.5(F5):c.731-15C>T
NM_000130.5(F5):c.731-9C>A
NM_000130.5(F5):c.731-9C>G
NM_000130.5(F5):c.731-9C>T
NM_000130.5(F5):c.747C>A (p.Ala249=)
NM_000130.5(F5):c.786G>A (p.Ser262=)
NM_000130.5(F5):c.795A>G (p.Glu265=)
NM_000130.5(F5):c.826C>T (p.Leu276=)
NM_000130.5(F5):c.843T>C (p.His281=)
NM_000130.5(F5):c.849C>G (p.Val283=)
NM_000130.5(F5):c.84G>A (p.Ala28=)
NM_000130.5(F5):c.861C>A (p.Thr287=)
NM_000130.5(F5):c.87A>G (p.Ala29=)
NM_000130.5(F5):c.906A>G (p.Pro302=)
NM_000130.5(F5):c.933C>T (p.Leu311=)
NM_000130.5(F5):c.93A>T (p.Leu31=)
NM_000130.5(F5):c.952+10T>A
NM_000130.5(F5):c.952+12T>C
NM_000130.5(F5):c.952+16G>A
NM_000130.5(F5):c.952+16G>T
NM_000130.5(F5):c.952+18C>T
NM_000130.5(F5):c.953-13T>C
NM_000130.5(F5):c.953-20G>A
NM_000130.5(F5):c.957G>C (p.Gly319=)
NM_000130.5(F5):c.966T>A (p.Ala322=)
NM_000130.5(F5):c.993G>A (p.Lys331=)

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.