ClinVar Miner

List of variants in gene POR studied for adrenogenital syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 629
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.1446T>C (p.Ala482=) rs2228104 0.86727
NM_001395413.1(POR):c.1058-13C>G rs4732516 0.84641
NM_001395413.1(POR):c.1707G>A (p.Ser569=) rs1057870 0.28425
NM_001395413.1(POR):c.1239+12C>T rs2286822 0.27856
NM_001395413.1(POR):c.1239+20G>A rs2286823 0.27178
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.20982
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_001395413.1(POR):c.*207C>G rs41302348 0.00808
NM_001395413.1(POR):c.*51C>T rs41302345 0.00770
NM_001395413.1(POR):c.360C>T (p.Ala120=) rs41299490 0.00719
NM_001395413.1(POR):c.78G>A (p.Thr26=) rs41295381 0.00681
NM_001395413.1(POR):c.1889+3G>A rs41301439 0.00568
NM_001395413.1(POR):c.*240C>T rs13921 0.00471
NM_001395413.1(POR):c.508-4G>A rs41299496 0.00462
NM_001395413.1(POR):c.508-14_508-13del rs72557912 0.00363
NM_001395413.1(POR):c.1661-17C>T rs10265262 0.00362
NM_001395413.1(POR):c.*63C>T rs72557961 0.00342
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_001395413.1(POR):c.1889+13G>T rs72557956 0.00178
NM_001395413.1(POR):c.*60C>T rs72557960 0.00173
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00106
NM_001395413.1(POR):c.308A>G (p.His103Arg) rs200622912 0.00093
NM_001395413.1(POR):c.678C>T (p.Ala226=) rs72557906 0.00089
NM_001395413.1(POR):c.*76G>A rs55909219 0.00062
NM_001395413.1(POR):c.675G>A (p.Pro225=) rs72555510 0.00062
NM_001395413.1(POR):c.1106C>T (p.Thr369Met) rs367810540 0.00058
NM_001395413.1(POR):c.1806+12G>A rs371432868 0.00058
NM_001395413.1(POR):c.390C>T (p.Asn130=) rs181837747 0.00049
NM_001395413.1(POR):c.1516C>T (p.Arg506Cys) rs374141883 0.00048
NM_001395413.1(POR):c.633-5C>G rs72555509 0.00047
NM_001395413.1(POR):c.1521G>A (p.Ala507=) rs368697465 0.00046
NM_001395413.1(POR):c.1227C>T (p.Ser409=) rs41301424 0.00041
NM_001395413.1(POR):c.1095G>A (p.Thr365=) rs150414675 0.00034
NM_001395413.1(POR):c.1228G>A (p.Gly410Ser) rs567904247 0.00029
NM_001395413.1(POR):c.1512C>T (p.Gly504=) rs370823127 0.00029
NM_001395413.1(POR):c.456C>T (p.Phe152=) rs372672054 0.00026
NM_001395413.1(POR):c.508-20C>T rs200924788 0.00026
NM_001395413.1(POR):c.522G>T (p.Gly174=) rs72557913 0.00026
NM_001395413.1(POR):c.*179G>A rs184275273 0.00024
NM_001395413.1(POR):c.*273T>C rs782378740 0.00024
NM_001395413.1(POR):c.1806+8G>A rs72557952 0.00024
NM_001395413.1(POR):c.1482G>T (p.Leu494=) rs370326231 0.00023
NM_001395413.1(POR):c.*218C>T rs539326245 0.00021
NM_001395413.1(POR):c.735C>T (p.Tyr245=) rs201786397 0.00021
NM_001395413.1(POR):c.*178C>T rs535637875 0.00019
NM_001395413.1(POR):c.180-10T>C rs374111607 0.00017
NM_001395413.1(POR):c.1208G>A (p.Arg403His) rs72557929 0.00016
NM_001395413.1(POR):c.1661-16G>A rs377723544 0.00016
NM_001395413.1(POR):c.506C>T (p.Ala169Val) rs374967948 0.00016
NM_001395413.1(POR):c.1776C>T (p.Asn592=) rs782559723 0.00015
NM_001395413.1(POR):c.793C>T (p.Arg265Trp) rs200471958 0.00015
NM_001395413.1(POR):c.1255T>G (p.Trp419Gly) rs536353066 0.00014
NM_001395413.1(POR):c.1700G>A (p.Arg567His) rs372955296 0.00014
NM_001395413.1(POR):c.2009G>A (p.Arg670His) rs376693603 0.00014
NM_001395413.1(POR):c.149A>T (p.Glu50Val) rs376145249 0.00013
NM_001395413.1(POR):c.335C>T (p.Ala112Val) rs199634961 0.00013
NM_001395413.1(POR):c.391G>A (p.Ala131Thr) rs201365892 0.00013
NM_001395413.1(POR):c.1419G>A (p.Ala473=) rs782722572 0.00011
NM_001395413.1(POR):c.1671G>C (p.Val557=) rs782786537 0.00011
NM_001395413.1(POR):c.1755C>T (p.Asp585=) rs72557949 0.00011
NM_001395413.1(POR):c.1867G>A (p.Gly623Ser) rs369181144 0.00011
NM_001395413.1(POR):c.710G>A (p.Gly237Asp) rs782746344 0.00011
NM_001395413.1(POR):c.1191G>A (p.Ser397=) rs372401863 0.00010
NM_001395413.1(POR):c.1509C>T (p.Asn503=) rs782397055 0.00010
NM_001395413.1(POR):c.150A>C (p.Glu50Asp) rs370701548 0.00010
NM_001395413.1(POR):c.1578G>A (p.Thr526=) rs371795413 0.00010
NM_001395413.1(POR):c.1806+7C>T rs72557951 0.00009
NM_001395413.1(POR):c.1933G>A (p.Asp645Asn) rs372930296 0.00009
NM_001395413.1(POR):c.357+14G>A rs372941705 0.00009
NM_001395413.1(POR):c.468G>A (p.Leu156=) rs782013669 0.00009
NM_001395413.1(POR):c.571C>T (p.Arg191Trp) rs782025961 0.00009
NM_001395413.1(POR):c.1085C>T (p.Pro362Leu) rs373022822 0.00008
NM_001395413.1(POR):c.1115C>T (p.Thr372Ile) rs782402961 0.00008
NM_001395413.1(POR):c.1944T>G (p.Ala648=) rs370865328 0.00008
NM_001395413.1(POR):c.1974G>A (p.Ala658=) rs367807239 0.00008
NM_001395413.1(POR):c.1966G>A (p.Ala656Thr) rs373737641 0.00007
NM_001395413.1(POR):c.*33C>T rs200310098 0.00006
NM_001395413.1(POR):c.1207C>T (p.Arg403Cys) rs202243657 0.00006
NM_001395413.1(POR):c.1305G>A (p.Pro435=) rs199937789 0.00006
NM_001395413.1(POR):c.1389+9C>T rs781864218 0.00006
NM_001395413.1(POR):c.1465G>A (p.Val489Met) rs377451454 0.00006
NM_001395413.1(POR):c.1750A>G (p.Arg584Gly) rs781795917 0.00006
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter) rs782261248 0.00006
NM_001395413.1(POR):c.1950C>T (p.Leu650=) rs41301442 0.00006
NM_001395413.1(POR):c.229-5C>T rs782035827 0.00006
NM_001395413.1(POR):c.420C>T (p.Tyr140=) rs368468521 0.00006
NM_001395413.1(POR):c.45G>A (p.Ala15=) rs782378313 0.00006
NM_001395413.1(POR):c.504C>T (p.Phe168=) rs372715546 0.00006
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_001395413.1(POR):c.137A>G (p.Lys46Arg) rs782289780 0.00005
NM_001395413.1(POR):c.1444G>A (p.Ala482Thr) rs72557947 0.00005
NM_001395413.1(POR):c.1603A>C (p.Thr535Pro) rs782814705 0.00005
NM_001395413.1(POR):c.1389+15T>A rs782664345 0.00004
NM_001395413.1(POR):c.1418C>T (p.Ala473Val) rs782156085 0.00004
NM_001395413.1(POR):c.1492G>A (p.Glu498Lys) rs782697310 0.00004
NM_001395413.1(POR):c.1510G>A (p.Gly504Ser) rs565343242 0.00004
NM_001395413.1(POR):c.1555C>T (p.Arg519Cys) rs782533830 0.00004
NM_001395413.1(POR):c.1640G>A (p.Arg547Gln) rs1320059073 0.00004
NM_001395413.1(POR):c.1661-4G>A rs372733766 0.00004
NM_001395413.1(POR):c.1693G>A (p.Gly565Ser) rs779082897 0.00004
NM_001395413.1(POR):c.1702C>T (p.Arg568Cys) rs782247167 0.00004
NM_001395413.1(POR):c.1939G>A (p.Val647Met) rs148175064 0.00004
NM_001395413.1(POR):c.311G>A (p.Arg104His) rs782776557 0.00004
NM_001395413.1(POR):c.34G>A (p.Val12Met) rs369118442 0.00004
NM_001395413.1(POR):c.588C>T (p.Gly196=) rs1489904713 0.00004
NM_001395413.1(POR):c.633-8C>T rs782533498 0.00004
NM_001395413.1(POR):c.723-2A>T rs782343026 0.00004
NM_001395413.1(POR):c.*21C>A rs782245884 0.00003
NM_001395413.1(POR):c.1176C>T (p.Tyr392=) rs782192787 0.00003
NM_001395413.1(POR):c.1270C>T (p.Arg424Trp) rs782197760 0.00003
NM_001395413.1(POR):c.1390-14G>A rs782583370 0.00003
NM_001395413.1(POR):c.162C>G (p.Phe54Leu) rs927062544 0.00003
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter) rs782336856 0.00003
NM_001395413.1(POR):c.1660+5G>C rs782407937 0.00003
NM_001395413.1(POR):c.1662C>T (p.Gly554=) rs541657992 0.00003
NM_001395413.1(POR):c.1789C>T (p.Arg597Trp) rs72557950 0.00003
NM_001395413.1(POR):c.205T>C (p.Phe69Leu) rs782107314 0.00003
NM_001395413.1(POR):c.229-10C>A rs542774696 0.00003
NM_001395413.1(POR):c.315C>T (p.Tyr105=) rs782376709 0.00003
NM_001395413.1(POR):c.316G>A (p.Gly106Arg) rs372623440 0.00003
NM_001395413.1(POR):c.560A>G (p.Tyr187Cys) rs782681272 0.00003
NM_001395413.1(POR):c.723-13C>T rs372119575 0.00003
NM_001395413.1(POR):c.821+2dup rs886062440 0.00003
NM_001395413.1(POR):c.1143G>A (p.Pro381=) rs375444057 0.00002
NM_001395413.1(POR):c.1354del (p.Gln452fs) rs781805159 0.00002
NM_001395413.1(POR):c.1389+10G>A rs782345141 0.00002
NM_001395413.1(POR):c.1396C>G (p.Pro466Ala) rs558340290 0.00002
NM_001395413.1(POR):c.157G>A (p.Glu53Lys) rs782151568 0.00002
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg) rs121912976 0.00002
NM_001395413.1(POR):c.1661-12C>T rs369107420 0.00002
NM_001395413.1(POR):c.1661-20C>A rs1335012473 0.00002
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr) rs28931607 0.00002
NM_001395413.1(POR):c.1837C>T (p.Arg613Ter) rs781946801 0.00002
NM_001395413.1(POR):c.1881C>T (p.Tyr627=) rs113741710 0.00002
NM_001395413.1(POR):c.1926C>T (p.Thr642=) rs557596726 0.00002
NM_001395413.1(POR):c.1973C>T (p.Ala658Val) rs782753228 0.00002
NM_001395413.1(POR):c.460G>A (p.Asp154Asn) rs782422122 0.00002
NM_001395413.1(POR):c.572G>A (p.Arg191Gln) rs769916309 0.00002
NM_001395413.1(POR):c.711C>T (p.Gly237=) rs374115833 0.00002
NM_001395413.1(POR):c.772G>A (p.Val258Met) rs1371752607 0.00002
NM_001395413.1(POR):c.103G>A (p.Val35Met) rs782469484 0.00001
NM_001395413.1(POR):c.1152C>T (p.Asn384=) rs1554558784 0.00001
NM_001395413.1(POR):c.1173G>A (p.Gln391=) rs1220024534 0.00001
NM_001395413.1(POR):c.1222T>G (p.Ser408Ala) rs781842238 0.00001
NM_001395413.1(POR):c.1240-16C>T rs1266871005 0.00001
NM_001395413.1(POR):c.1256G>T (p.Trp419Leu) rs1419019194 0.00001
NM_001395413.1(POR):c.1374C>T (p.Ile458=) rs1003383217 0.00001
NM_001395413.1(POR):c.1375G>A (p.Ala459Thr) rs72557936 0.00001
NM_001395413.1(POR):c.1526T>C (p.Val509Ala) rs1789403650 0.00001
NM_001395413.1(POR):c.1575C>T (p.Thr525=) rs933264724 0.00001
NM_001395413.1(POR):c.1585A>G (p.Ile529Val) rs886062442 0.00001
NM_001395413.1(POR):c.160T>C (p.Phe54Leu) rs782711779 0.00001
NM_001395413.1(POR):c.163A>G (p.Thr55Ala) rs781793249 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_001395413.1(POR):c.1726C>T (p.Arg576Trp) rs868927799 0.00001
NM_001395413.1(POR):c.179+2T>C rs936203749 0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys) rs72557954 0.00001
NM_001395413.1(POR):c.182C>T (p.Thr61Ile) rs868909994 0.00001
NM_001395413.1(POR):c.1959G>T (p.Met653Ile) rs377283521 0.00001
NM_001395413.1(POR):c.1962G>C (p.Glu654Asp) rs371420725 0.00001
NM_001395413.1(POR):c.1968G>A (p.Ala656=) rs782446980 0.00001
NM_001395413.1(POR):c.1991A>C (p.Lys664Thr) rs782588164 0.00001
NM_001395413.1(POR):c.2013C>T (p.Tyr671=) rs1554559514 0.00001
NM_001395413.1(POR):c.251A>G (p.Tyr84Cys) rs1047228872 0.00001
NM_001395413.1(POR):c.301G>A (p.Asp101Asn) rs958254199 0.00001
NM_001395413.1(POR):c.438C>T (p.Thr146=) rs782302163 0.00001
NM_001395413.1(POR):c.484G>T (p.Asp162Tyr) rs1003447223 0.00001
NM_001395413.1(POR):c.754G>A (p.Asp252Asn) rs41299514 0.00001
NM_001395413.1(POR):c.764C>T (p.Ala255Val) rs367782552 0.00001
NM_001395413.1(POR):c.821+15C>T rs540000393 0.00001
NM_001395413.1(POR):c.821C>T (p.Pro274Leu) rs369749344 0.00001
NM_001395413.1(POR):c.*137G>A rs886062443
NM_001395413.1(POR):c.*219G>T rs557751714
NM_001395413.1(POR):c.*291G>A rs886062445
NM_001395413.1(POR):c.*306G>A rs17685
NM_001395413.1(POR):c.*40T>G rs1789485173
NM_001395413.1(POR):c.102C>T (p.Ile34=) rs371758475
NM_001395413.1(POR):c.1058-4G>A
NM_001395413.1(POR):c.1068C>T (p.Asn356=)
NM_001395413.1(POR):c.1086G>A (p.Pro362=)
NM_001395413.1(POR):c.1086G>C (p.Pro362=)
NM_001395413.1(POR):c.1086G>T (p.Pro362=)
NM_001395413.1(POR):c.1089C>T (p.Cys363=)
NM_001395413.1(POR):c.1092T>A (p.Pro364=) rs782729580
NM_001395413.1(POR):c.1103G>A (p.Arg368His)
NM_001395413.1(POR):c.1103_1109del (p.Arg368fs)
NM_001395413.1(POR):c.1107G>A (p.Thr369=)
NM_001395413.1(POR):c.1107G>C (p.Thr369=)
NM_001395413.1(POR):c.1110C>T (p.Ala370=)
NM_001395413.1(POR):c.111C>T (p.Leu37=)
NM_001395413.1(POR):c.1125G>A (p.Leu375=) rs112719660
NM_001395413.1(POR):c.1129A>G (p.Ile377Val)
NM_001395413.1(POR):c.1140G>A (p.Pro380=)
NM_001395413.1(POR):c.1149C>G (p.Thr383=)
NM_001395413.1(POR):c.115del (p.Thr39fs)
NM_001395413.1(POR):c.1161C>T (p.Tyr387=)
NM_001395413.1(POR):c.1169C>T (p.Ala390Val)
NM_001395413.1(POR):c.1170G>A (p.Ala390=)
NM_001395413.1(POR):c.1172del (p.Gln391fs)
NM_001395413.1(POR):c.1178CCTCGGAGC[1] (p.Pro396_Glu398del)
NM_001395413.1(POR):c.1181C>T (p.Ser394Leu)
NM_001395413.1(POR):c.1182G>A (p.Ser394=) rs72557928
NM_001395413.1(POR):c.1182G>T (p.Ser394=)
NM_001395413.1(POR):c.1188C>T (p.Pro396=)
NM_001395413.1(POR):c.1194G>A (p.Glu398=)
NM_001395413.1(POR):c.1201C>T (p.Leu401=)
NM_001395413.1(POR):c.1209C>G (p.Arg403=)
NM_001395413.1(POR):c.1218C>G (p.Ala406=)
NM_001395413.1(POR):c.1224C>G (p.Ser408=)
NM_001395413.1(POR):c.1224C>T (p.Ser408=)
NM_001395413.1(POR):c.1231G>T (p.Glu411Ter)
NM_001395413.1(POR):c.1236C>T (p.Gly412=) rs1220545486
NM_001395413.1(POR):c.1239+10_1239+33del rs782146699
NM_001395413.1(POR):c.1239+10del rs797045899
NM_001395413.1(POR):c.1239+11_1239+19del rs782775039
NM_001395413.1(POR):c.1239+14_1239+22del
NM_001395413.1(POR):c.1239+15C>T
NM_001395413.1(POR):c.1239+16C>T
NM_001395413.1(POR):c.1239+17C>T
NM_001395413.1(POR):c.1239+18C>T
NM_001395413.1(POR):c.1239+19C>T
NM_001395413.1(POR):c.1239+1G>C rs782168868
NM_001395413.1(POR):c.1239+1G>T
NM_001395413.1(POR):c.1239+2T>G
NM_001395413.1(POR):c.1240-11G>A
NM_001395413.1(POR):c.1240-11G>C
NM_001395413.1(POR):c.1240-12C>T rs1208139617
NM_001395413.1(POR):c.1240-14C>A
NM_001395413.1(POR):c.1240-15C>T
NM_001395413.1(POR):c.1240-2A>G
NM_001395413.1(POR):c.1240-5C>T rs2116624933
NM_001395413.1(POR):c.1240-7C>T
NM_001395413.1(POR):c.1245G>T (p.Leu415=)
NM_001395413.1(POR):c.1251G>C (p.Leu417=)
NM_001395413.1(POR):c.1254C>T (p.Ser418=) rs1392235928
NM_001395413.1(POR):c.1287C>A (p.Ala429=)
NM_001395413.1(POR):c.1307C>T (p.Ser436Phe) rs1789345072
NM_001395413.1(POR):c.1320C>T (p.Pro440=)
NM_001395413.1(POR):c.1320del (p.Ile441fs)
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1323C>T (p.Ile441=)
NM_001395413.1(POR):c.1337_1338dup (p.Leu447fs)
NM_001395413.1(POR):c.1347G>A (p.Pro449=)
NM_001395413.1(POR):c.1349G>A (p.Arg450His)
NM_001395413.1(POR):c.1353G>C (p.Leu451=)
NM_001395413.1(POR):c.1356G>A (p.Gln452=)
NM_001395413.1(POR):c.1359C>T (p.Ala453=)
NM_001395413.1(POR):c.1375G>C (p.Ala459Pro) rs72557936
NM_001395413.1(POR):c.1380A>G (p.Ser460=)
NM_001395413.1(POR):c.1386C>T (p.Ser462=)
NM_001395413.1(POR):c.1389+12C>T
NM_001395413.1(POR):c.1389+18C>G
NM_001395413.1(POR):c.1389+19C>T
NM_001395413.1(POR):c.1389+1G>A
NM_001395413.1(POR):c.1389+1G>C
NM_001395413.1(POR):c.138G>C (p.Lys46Asn)
NM_001395413.1(POR):c.1390-12C>G
NM_001395413.1(POR):c.1390-15C>T
NM_001395413.1(POR):c.1390-4A>C
NM_001395413.1(POR):c.1390-5C>A
NM_001395413.1(POR):c.1392C>A (p.Val464=)
NM_001395413.1(POR):c.1395C>T (p.His465=)
NM_001395413.1(POR):c.1398C>T (p.Pro466=)
NM_001395413.1(POR):c.1405G>A (p.Val469Met) rs72557946
NM_001395413.1(POR):c.1405G>C (p.Val469Leu) rs72557946
NM_001395413.1(POR):c.1406_1407del (p.Val469fs) rs782395275
NM_001395413.1(POR):c.1410C>T (p.His470=)
NM_001395413.1(POR):c.1422G>C (p.Val474=)
NM_001395413.1(POR):c.1428G>A (p.Val476=)
NM_001395413.1(POR):c.1428G>C (p.Val476=)
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter) rs373613946
NM_001395413.1(POR):c.1434C>G (p.Tyr478Ter)
NM_001395413.1(POR):c.1434C>T (p.Tyr478=)
NM_001395413.1(POR):c.143AAG[2] (p.Glu50del) rs72553987
NM_001395413.1(POR):c.1442_1446del (p.Lys481fs)
NM_001395413.1(POR):c.1446T>A (p.Ala482=)
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
NM_001395413.1(POR):c.1464C>T (p.Gly488=)
NM_001395413.1(POR):c.1470C>G (p.Ala490=)
NM_001395413.1(POR):c.1470C>T (p.Ala490=)
NM_001395413.1(POR):c.1482G>A (p.Leu494=) rs370326231
NM_001395413.1(POR):c.1483C>T (p.Arg495Trp)
NM_001395413.1(POR):c.1492G>T (p.Glu498Ter)
NM_001395413.1(POR):c.1500C>T (p.Ala500=)
NM_001395413.1(POR):c.1501G>A (p.Gly501Arg)
NM_001395413.1(POR):c.1504G>A (p.Glu502Lys) rs377159530
NM_001395413.1(POR):c.1506G>A (p.Glu502=)
NM_001395413.1(POR):c.1512C>G (p.Gly504=)
NM_001395413.1(POR):c.1513G>A (p.Gly505Ser) rs547817208
NM_001395413.1(POR):c.1519_1561dup (p.Pro521fs)
NM_001395413.1(POR):c.1523_1542dup (p.Lys515fs)
NM_001395413.1(POR):c.1524G>A (p.Leu508=)
NM_001395413.1(POR):c.1530C>T (p.Pro510=)
NM_001395413.1(POR):c.1536C>T (p.Phe512=)
NM_001395413.1(POR):c.153C>T (p.Val51=)
NM_001395413.1(POR):c.1541G>A (p.Arg514His)
NM_001395413.1(POR):c.1541G>C (p.Arg514Pro)
NM_001395413.1(POR):c.1548C>T (p.Ser516=)
NM_001395413.1(POR):c.1562_1610dup (p.Ala538fs) rs1563435458
NM_001395413.1(POR):c.1563C>T (p.Pro521=)
NM_001395413.1(POR):c.156C>T (p.Pro52=) rs782368623
NM_001395413.1(POR):c.1572C>T (p.Ala524=)
NM_001395413.1(POR):c.1575C>A (p.Thr525=)
NM_001395413.1(POR):c.1577C>T (p.Thr526Met) rs782248163
NM_001395413.1(POR):c.1584CAT[1] (p.Ile529del)
NM_001395413.1(POR):c.1593G>T (p.Val531=)
NM_001395413.1(POR):c.1599C>T (p.Pro533=)
NM_001395413.1(POR):c.15C>T (p.His5=)
NM_001395413.1(POR):c.1600G>A (p.Gly534Ser) rs569673150
NM_001395413.1(POR):c.1600G>C (p.Gly534Arg) rs569673150
NM_001395413.1(POR):c.1605C>T (p.Thr535=)
NM_001395413.1(POR):c.1613dup (p.Pro539fs)
NM_001395413.1(POR):c.1623A>C (p.Ile541=)
NM_001395413.1(POR):c.1623A>T (p.Ile541=)
NM_001395413.1(POR):c.1629C>T (p.Phe543=)
NM_001395413.1(POR):c.1631_1634del (p.Ile544fs)
NM_001395413.1(POR):c.1638G>A (p.Glu546=)
NM_001395413.1(POR):c.1647_1660+15del
NM_001395413.1(POR):c.1653A>G (p.Arg551=)
NM_001395413.1(POR):c.1660+10G>T
NM_001395413.1(POR):c.1660+10dup
NM_001395413.1(POR):c.1660+12C>A
NM_001395413.1(POR):c.1660+16T>C
NM_001395413.1(POR):c.1660+16T>G
NM_001395413.1(POR):c.1660+17G>A
NM_001395413.1(POR):c.1660+17G>C
NM_001395413.1(POR):c.1660+8G>C
NM_001395413.1(POR):c.1660+9G>A rs1554559215
NM_001395413.1(POR):c.1661-10T>G
NM_001395413.1(POR):c.1661-13C>T
NM_001395413.1(POR):c.1661-19C>T
NM_001395413.1(POR):c.1661-2A>G
NM_001395413.1(POR):c.1661-5C>T
NM_001395413.1(POR):c.1661-7C>A
NM_001395413.1(POR):c.1661-7C>G
NM_001395413.1(POR):c.1671G>T (p.Val557=)
NM_001395413.1(POR):c.1674G>A (p.Gly558=)
NM_001395413.1(POR):c.1675dup (p.Glu559fs)
NM_001395413.1(POR):c.1676_1679dup (p.Leu561fs) rs781914230
NM_001395413.1(POR):c.1680G>A (p.Thr560=)
NM_001395413.1(POR):c.1689C>T (p.Tyr563=)
NM_001395413.1(POR):c.1690_1691dup (p.Gly565fs)
NM_001395413.1(POR):c.1692C>T (p.Tyr564=)
NM_001395413.1(POR):c.1713G>C (p.Glu571Asp) rs1414093729
NM_001395413.1(POR):c.1714G>A (p.Asp572Asn)
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro) rs56256515
NM_001395413.1(POR):c.1722G>A (p.Leu574=) rs1554559285
NM_001395413.1(POR):c.1725C>T (p.Tyr575=)
NM_001395413.1(POR):c.1731G>A (p.Glu577=)
NM_001395413.1(POR):c.1740G>A (p.Ala580=)
NM_001395413.1(POR):c.1752G>A (p.Arg584=)
NM_001395413.1(POR):c.1761G>A (p.Ala587=)
NM_001395413.1(POR):c.1767C>A (p.Thr589=)
NM_001395413.1(POR):c.1773C>T (p.Leu591=)
NM_001395413.1(POR):c.1776C>G (p.Asn592Lys)
NM_001395413.1(POR):c.1782C>T (p.Ala594=)
NM_001395413.1(POR):c.1785C>T (p.Phe595=)
NM_001395413.1(POR):c.179+10G>A
NM_001395413.1(POR):c.179+14C>G
NM_001395413.1(POR):c.179+14C>T
NM_001395413.1(POR):c.179+15_179+16del
NM_001395413.1(POR):c.179+16C>G
NM_001395413.1(POR):c.179+9C>T
NM_001395413.1(POR):c.1791G>A (p.Arg597=)
NM_001395413.1(POR):c.1792del (p.Glu598fs)
NM_001395413.1(POR):c.1795C>T (p.Gln599Ter)
NM_001395413.1(POR):c.180-15_180-14del
NM_001395413.1(POR):c.180-18C>T
NM_001395413.1(POR):c.180-5T>C
NM_001395413.1(POR):c.180-8T>C
NM_001395413.1(POR):c.1806+10G>T
NM_001395413.1(POR):c.1806+11C>T
NM_001395413.1(POR):c.1806+15C>A
NM_001395413.1(POR):c.1806+15C>G
NM_001395413.1(POR):c.1806+9G>C
NM_001395413.1(POR):c.1807-15C>T
NM_001395413.1(POR):c.1807-1G>A
NM_001395413.1(POR):c.1807-2A>C
NM_001395413.1(POR):c.1807-4C>T
NM_001395413.1(POR):c.1807-8G>C
NM_001395413.1(POR):c.1809C>G (p.Val603=)
NM_001395413.1(POR):c.1812C>T (p.Tyr604=)
NM_001395413.1(POR):c.1813G>A (p.Val605Ile)
NM_001395413.1(POR):c.1813G>T (p.Val605Phe) rs72552772
NM_001395413.1(POR):c.1815C>G (p.Val605=)
NM_001395413.1(POR):c.1815C>T (p.Val605=)
NM_001395413.1(POR):c.1818G>A (p.Gln606=)
NM_001395413.1(POR):c.1825C>T (p.Leu609=)
NM_001395413.1(POR):c.1830G>A (p.Lys610=)
NM_001395413.1(POR):c.1840G>A (p.Glu614Lys) rs771477130
NM_001395413.1(POR):c.1851G>T (p.Trp617Cys)
NM_001395413.1(POR):c.1855T>C (p.Leu619=)
NM_001395413.1(POR):c.1860C>A (p.Ile620=) rs553145252
NM_001395413.1(POR):c.1860C>T (p.Ile620=)
NM_001395413.1(POR):c.1866C>T (p.Gly622=)
NM_001395413.1(POR):c.1869T>C (p.Gly623=)
NM_001395413.1(POR):c.186C>G (p.Ser62=)
NM_001395413.1(POR):c.1874A>C (p.His625Pro)
NM_001395413.1(POR):c.1889+14dup
NM_001395413.1(POR):c.1889+7G>A
NM_001395413.1(POR):c.1889+8A>C
NM_001395413.1(POR):c.1889+8_1889+11del rs782708898
NM_001395413.1(POR):c.1889+9G>T rs782024811
NM_001395413.1(POR):c.1890-11T>A
NM_001395413.1(POR):c.1890-12_1890-11del
NM_001395413.1(POR):c.1890-12dup
NM_001395413.1(POR):c.1890-13T>C
NM_001395413.1(POR):c.1890-14C>G
NM_001395413.1(POR):c.1890-17C>A
NM_001395413.1(POR):c.1890-19A>C
NM_001395413.1(POR):c.1890-20C>T
NM_001395413.1(POR):c.1890-6G>A
NM_001395413.1(POR):c.1890-8C>T
NM_001395413.1(POR):c.1896A>T (p.Ala632=)
NM_001395413.1(POR):c.1897C>A (p.Arg633=)
NM_001395413.1(POR):c.1923C>A (p.Asn641Lys) rs781793669
NM_001395413.1(POR):c.1923C>T (p.Asn641=)
NM_001395413.1(POR):c.1932C>T (p.Tyr644=)
NM_001395413.1(POR):c.1935C>T (p.Asp645=)
NM_001395413.1(POR):c.1938C>T (p.Ile646=)
NM_001395413.1(POR):c.1950C>A (p.Leu650=)
NM_001395413.1(POR):c.1953G>A (p.Gly651=)
NM_001395413.1(POR):c.1956C>T (p.Ala652=)
NM_001395413.1(POR):c.1965C>G (p.His655Gln) rs782143954
NM_001395413.1(POR):c.1965C>T (p.His655=)
NM_001395413.1(POR):c.1968G>T (p.Ala656=)
NM_001395413.1(POR):c.1977G>A (p.Val659=)
NM_001395413.1(POR):c.1980C>T (p.Asp660=)
NM_001395413.1(POR):c.1992del (p.Lys664fs)
NM_001395413.1(POR):c.1995G>A (p.Leu665=)
NM_001395413.1(POR):c.2002A>G (p.Lys668Glu)
NM_001395413.1(POR):c.2010C>A (p.Arg670=)
NM_001395413.1(POR):c.2010C>T (p.Arg670=)
NM_001395413.1(POR):c.2022C>T (p.Asp674=)
NM_001395413.1(POR):c.2025G>A (p.Val675=)
NM_001395413.1(POR):c.2031C>T (p.Ser677=)
NM_001395413.1(POR):c.207T>G (p.Phe69Leu)
NM_001395413.1(POR):c.226A>G (p.Thr76Ala) rs1788485288
NM_001395413.1(POR):c.228+14A>G
NM_001395413.1(POR):c.228+20T>C
NM_001395413.1(POR):c.228+20T>G
NM_001395413.1(POR):c.229-10C>T
NM_001395413.1(POR):c.229-11G>A
NM_001395413.1(POR):c.229-13C>T
NM_001395413.1(POR):c.229-15G>A
NM_001395413.1(POR):c.229-15_229-14del
NM_001395413.1(POR):c.229-16T>G
NM_001395413.1(POR):c.229-17G>A
NM_001395413.1(POR):c.229-19C>G
NM_001395413.1(POR):c.229-19C>T
NM_001395413.1(POR):c.229-19_229-18del
NM_001395413.1(POR):c.229-1G>A
NM_001395413.1(POR):c.229-2A>G
NM_001395413.1(POR):c.229-3T>C
NM_001395413.1(POR):c.229-8T>C
NM_001395413.1(POR):c.229-9C>G
NM_001395413.1(POR):c.236A>T (p.Asn79Ile)
NM_001395413.1(POR):c.237C>T (p.Asn79=) rs1585126959
NM_001395413.1(POR):c.240C>A (p.Ile80=)
NM_001395413.1(POR):c.243C>T (p.Ile81=)
NM_001395413.1(POR):c.246G>T (p.Val82=)
NM_001395413.1(POR):c.251dup (p.Tyr84Ter)
NM_001395413.1(POR):c.252C>T (p.Tyr84=)
NM_001395413.1(POR):c.259C>T (p.Gln87Ter)
NM_001395413.1(POR):c.263C>T (p.Thr88Met)
NM_001395413.1(POR):c.264G>A (p.Thr88=)
NM_001395413.1(POR):c.270T>C (p.Thr90=)
NM_001395413.1(POR):c.272C>T (p.Ala91Val)
NM_001395413.1(POR):c.285C>T (p.Ala95=) rs1554557307
NM_001395413.1(POR):c.291C>A (p.Arg97=)
NM_001395413.1(POR):c.295T>C (p.Ser99Pro)
NM_001395413.1(POR):c.300G>A (p.Lys100=)
NM_001395413.1(POR):c.303C>T (p.Asp101=)
NM_001395413.1(POR):c.304G>A (p.Ala102Thr)
NM_001395413.1(POR):c.310C>T (p.Arg104Cys)
NM_001395413.1(POR):c.322C>T (p.Arg108Ter) rs1181572912
NM_001395413.1(POR):c.323G>A (p.Arg108Gln)
NM_001395413.1(POR):c.336G>A (p.Ala112=)
NM_001395413.1(POR):c.33C>T (p.Thr11=)
NM_001395413.1(POR):c.345G>A (p.Glu115=)
NM_001395413.1(POR):c.348G>A (p.Glu116=)
NM_001395413.1(POR):c.357+13C>T
NM_001395413.1(POR):c.357+15C>T
NM_001395413.1(POR):c.357+16G>A
NM_001395413.1(POR):c.357+16G>T rs782083860
NM_001395413.1(POR):c.357+18G>A
NM_001395413.1(POR):c.357+18G>C
NM_001395413.1(POR):c.357+8G>A
NM_001395413.1(POR):c.358-12_358-11del
NM_001395413.1(POR):c.358-14C>G
NM_001395413.1(POR):c.358-18C>G
NM_001395413.1(POR):c.358-5T>C
NM_001395413.1(POR):c.358-9_358-4del
NM_001395413.1(POR):c.364C>T (p.Leu122=)
NM_001395413.1(POR):c.366G>A (p.Leu122=)
NM_001395413.1(POR):c.369C>G (p.Ser123Arg) rs2116587581
NM_001395413.1(POR):c.36G>A (p.Val12=) rs781862803
NM_001395413.1(POR):c.371G>A (p.Ser124Asn)
NM_001395413.1(POR):c.384C>T (p.Ile128=) rs782166276
NM_001395413.1(POR):c.385G>A (p.Asp129Asn) rs554865831
NM_001395413.1(POR):c.385_386dup (p.Asp129fs)
NM_001395413.1(POR):c.386del (p.Asp129fs)
NM_001395413.1(POR):c.39C>T (p.Ser13=)
NM_001395413.1(POR):c.408C>T (p.Cys136=)
NM_001395413.1(POR):c.40G>T (p.Glu14Ter)
NM_001395413.1(POR):c.423T>C (p.Gly141=)
NM_001395413.1(POR):c.426G>C (p.Glu142Asp)
NM_001395413.1(POR):c.447C>T (p.Ala149=)
NM_001395413.1(POR):c.44C>T (p.Ala15Val)
NM_001395413.1(POR):c.450G>A (p.Gln150=)
NM_001395413.1(POR):c.453C>T (p.Asp151=)
NM_001395413.1(POR):c.458del (p.Tyr153fs)
NM_001395413.1(POR):c.459C>T (p.Tyr153=)
NM_001395413.1(POR):c.477A>G (p.Thr159=)
NM_001395413.1(POR):c.480C>T (p.Asp160=)
NM_001395413.1(POR):c.481G>A (p.Val161Met) rs200112691
NM_001395413.1(POR):c.483G>A (p.Val161=)
NM_001395413.1(POR):c.485A>C (p.Asp162Ala)
NM_001395413.1(POR):c.498C>T (p.Val166=)
NM_001395413.1(POR):c.504C>G (p.Phe168Leu) rs372715546
NM_001395413.1(POR):c.507+15_507+16del rs368249506
NM_001395413.1(POR):c.507+18T>G
NM_001395413.1(POR):c.507G>A (p.Ala169=)
NM_001395413.1(POR):c.508-13T>C
NM_001395413.1(POR):c.508-19G>A
NM_001395413.1(POR):c.508-19G>T
NM_001395413.1(POR):c.508-5C>T
NM_001395413.1(POR):c.508-7C>T
NM_001395413.1(POR):c.511T>A (p.Phe171Ile)
NM_001395413.1(POR):c.514G>A (p.Gly172Ser)
NM_001395413.1(POR):c.516T>C (p.Gly172=)
NM_001395413.1(POR):c.519T>C (p.Leu173=)
NM_001395413.1(POR):c.51C>G (p.Ala17=)
NM_001395413.1(POR):c.51C>T (p.Ala17=)
NM_001395413.1(POR):c.522G>C (p.Gly174=)
NM_001395413.1(POR):c.529A>G (p.Thr177Ala)
NM_001395413.1(POR):c.530C>G (p.Thr177Ser) rs2116593920
NM_001395413.1(POR):c.531C>T (p.Thr177=) rs782409308
NM_001395413.1(POR):c.532T>G (p.Tyr178Asp) rs72552771
NM_001395413.1(POR):c.534C>T (p.Tyr178=)
NM_001395413.1(POR):c.540C>T (p.His180=)
NM_001395413.1(POR):c.546T>C (p.Asn182=)
NM_001395413.1(POR):c.549C>T (p.Ala183=)
NM_001395413.1(POR):c.552G>T (p.Met184Ile) rs1554557749
NM_001395413.1(POR):c.561C>T (p.Tyr187=)
NM_001395413.1(POR):c.562G>A (p.Val188Met) rs201513102
NM_001395413.1(POR):c.562G>C (p.Val188Leu) rs201513102
NM_001395413.1(POR):c.579G>C (p.Glu193Asp)
NM_001395413.1(POR):c.585C>T (p.Leu195=)
NM_001395413.1(POR):c.588C>A (p.Gly196=)
NM_001395413.1(POR):c.5G>C (p.Gly2Ala)
NM_001395413.1(POR):c.600C>T (p.Ile200=)
NM_001395413.1(POR):c.604G>C (p.Glu202Gln) rs1585129186
NM_001395413.1(POR):c.60A>G (p.Val20=)
NM_001395413.1(POR):c.612G>A (p.Gly204=)
NM_001395413.1(POR):c.615G>A (p.Leu205=) rs782714107
NM_001395413.1(POR):c.618C>T (p.Gly206=)
NM_001395413.1(POR):c.621C>T (p.Asp207=)
NM_001395413.1(POR):c.624C>T (p.Asp208=)
NM_001395413.1(POR):c.625G>C (p.Asp209His) rs374707345
NM_001395413.1(POR):c.632+11A>G
NM_001395413.1(POR):c.632+14C>A
NM_001395413.1(POR):c.632+15T>C rs2116595459
NM_001395413.1(POR):c.632+18C>T
NM_001395413.1(POR):c.632+7G>A
NM_001395413.1(POR):c.633-12T>C
NM_001395413.1(POR):c.633-14T>G
NM_001395413.1(POR):c.633-16C>G
NM_001395413.1(POR):c.633-20C>A
NM_001395413.1(POR):c.633-20C>G rs368640263
NM_001395413.1(POR):c.633-20C>T
NM_001395413.1(POR):c.633-7G>C
NM_001395413.1(POR):c.636GGA[2] (p.Glu214del) rs782434696
NM_001395413.1(POR):c.646T>G (p.Phe216Val) rs1789043381
NM_001395413.1(POR):c.64_65del (p.Leu22fs)
NM_001395413.1(POR):c.651C>T (p.Ile217=)
NM_001395413.1(POR):c.658C>A (p.Arg220=)
NM_001395413.1(POR):c.658C>T (p.Arg220Ter)
NM_001395413.1(POR):c.681G>T (p.Val227=)
NM_001395413.1(POR):c.697del (p.Val233fs)
NM_001395413.1(POR):c.711C>G (p.Gly237=)
NM_001395413.1(POR):c.722+10T>C
NM_001395413.1(POR):c.722+14C>T
NM_001395413.1(POR):c.722+15G>A
NM_001395413.1(POR):c.722+15G>T
NM_001395413.1(POR):c.722+17A>G
NM_001395413.1(POR):c.722+18G>A
NM_001395413.1(POR):c.722+8A>C
NM_001395413.1(POR):c.723-11C>G
NM_001395413.1(POR):c.723-11C>T
NM_001395413.1(POR):c.723-15dup
NM_001395413.1(POR):c.723-16G>C
NM_001395413.1(POR):c.723-7T>G
NM_001395413.1(POR):c.723-9C>T
NM_001395413.1(POR):c.735C>G (p.Tyr245Ter)
NM_001395413.1(POR):c.738G>A (p.Glu246=)
NM_001395413.1(POR):c.753C>G (p.Thr251=)
NM_001395413.1(POR):c.753C>T (p.Thr251=)
NM_001395413.1(POR):c.765G>A (p.Ala255=)
NM_001395413.1(POR):c.765G>C (p.Ala255=)
NM_001395413.1(POR):c.768C>T (p.Ala256=)
NM_001395413.1(POR):c.768del (p.Lys257fs)
NM_001395413.1(POR):c.771G>A (p.Lys257=)
NM_001395413.1(POR):c.774G>T (p.Val258=)
NM_001395413.1(POR):c.779T>G (p.Met260Arg)
NM_001395413.1(POR):c.77C>T (p.Thr26Met)
NM_001395413.1(POR):c.784G>T (p.Glu262Ter)
NM_001395413.1(POR):c.793C>A (p.Arg265=)
NM_001395413.1(POR):c.798G>T (p.Leu266=)
NM_001395413.1(POR):c.804C>A (p.Ser268Arg) rs201598971
NM_001395413.1(POR):c.804C>T (p.Ser268=) rs201598971
NM_001395413.1(POR):c.807C>T (p.Tyr269=)
NM_001395413.1(POR):c.808G>A (p.Glu270Lys)
NM_001395413.1(POR):c.810G>A (p.Glu270=)
NM_001395413.1(POR):c.813C>T (p.Asn271=)
NM_001395413.1(POR):c.815A>G (p.Gln272Arg) rs201697814
NM_001395413.1(POR):c.821+10G>C
NM_001395413.1(POR):c.821+13del
NM_001395413.1(POR):c.821+16G>A
NM_001395413.1(POR):c.821+17T>C
NM_001395413.1(POR):c.821+18G>T
NM_001395413.1(POR):c.821+1G>A
NM_001395413.1(POR):c.821+20C>T
NM_001395413.1(POR):c.821+2_821+3del
NM_001395413.1(POR):c.821+9A>G
NM_001395413.1(POR):c.821+9_821+24del
NM_001395413.1(POR):c.87T>C (p.Ile29=)
NM_001395413.1(POR):c.96G>A (p.Ser32=)

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.