ClinVar Miner

List of variants reported as likely benign for adrenogenital syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 570
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.822-35C>T rs41301394 0.25679
NM_000102.4(CYP17A1):c.1243+113A>T rs10883783 0.24865
NM_000102.4(CYP17A1):c.1139+19T>G rs4919686 0.21485
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.20982
NM_000102.4(CYP17A1):c.1243+83C>A rs284849 0.15759
NM_000176.3(NR3C1):c.879G>A (p.Lys293=) rs10482622 0.02642
NM_000349.3(STAR):c.*456C>T rs35045158 0.02530
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=) rs61752769 0.02016
NM_000176.3(NR3C1):c.1088A>G (p.Asn363Ser) rs56149945 0.01969
NM_000176.3(NR3C1):c.68G>A (p.Arg23Lys) rs6190 0.01857
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189 0.01685
NM_000497.4(CYP11B1):c.1122-20A>G rs61752794 0.01661
NM_000349.2(STAR):c.-172C>T rs16887226 0.01566
NM_000497.4(CYP11B1):c.*1871T>A rs61752818 0.01316
NM_000500.9(CYP21A2):c.203-46C>T rs6452 0.01305
NM_000176.3(NR3C1):c.*3550G>A rs10482714 0.01274
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=) rs5316 0.01232
NM_000497.4(CYP11B1):c.*1076C>T rs61752806 0.01209
NM_000497.4(CYP11B1):c.*193A>T rs61752798 0.01010
NM_000497.4(CYP11B1):c.*1512G>A rs61752814 0.00880
NM_000497.4(CYP11B1):c.*1258G>A rs61752808 0.00878
NM_001395413.1(POR):c.*207C>G rs41302348 0.00808
NM_000497.4(CYP11B1):c.*468C>T rs114832894 0.00774
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) rs9657022 0.00726
NM_000497.4(CYP11B1):c.*1138del rs148110533 0.00599
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_000176.3(NR3C1):c.*1880A>G rs10043662 0.00459
NM_000176.3(NR3C1):c.193T>G (p.Phe65Val) rs6192 0.00408
NM_004285.4(H6PD):c.1053C>T (p.Gly351=) rs34448374 0.00319
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_001018077.1(NR3C1):c.-620G>A rs61757433 0.00264
NM_001018077.1(NR3C1):c.-616T>G rs61757434 0.00254
NM_000497.4(CYP11B1):c.988C>T (p.Leu330=) rs61752765 0.00216
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_000349.3(STAR):c.687G>A (p.Pro229=) rs35852516 0.00180
NM_000349.3(STAR):c.141G>A (p.Thr47=) rs147318238 0.00173
NM_004285.4(H6PD):c.1342G>A (p.Ala448Thr) rs34580447 0.00150
NM_000500.9(CYP21A2):c.292+56T>G rs543633765 0.00139
NM_001395413.1(POR):c.975C>T (p.Ala325=) rs72557941 0.00136
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315 0.00134
NM_000176.3(NR3C1):c.*2042C>T rs13306586 0.00131
NM_000497.4(CYP11B1):c.*634G>A rs1137481 0.00126
NM_000176.3(NR3C1):c.2182-9C>G rs72542757 0.00121
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys) rs61751149 0.00112
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645 0.00095
NM_001395413.1(POR):c.308A>G (p.His103Arg) rs200622912 0.00093
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu) rs61732108 0.00090
NM_001395413.1(POR):c.678C>T (p.Ala226=) rs72557906 0.00089
NM_001018077.1(NR3C1):c.-1008C>T rs72555796 0.00081
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=) rs61751150 0.00079
NM_000176.3(NR3C1):c.*3076C>T rs72542769 0.00066
NM_000176.3(NR3C1):c.*290A>C rs72542758 0.00061
NM_000176.3(NR3C1):c.*3153C>T rs2301177 0.00061
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=) rs67902340 0.00061
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=) rs67300719 0.00061
NM_000176.3(NR3C1):c.897A>G (p.Thr299=) rs13306588 0.00061
NM_000500.9(CYP21A2):c.292+37T>A rs184177366 0.00058
NM_001395413.1(POR):c.1806+12G>A rs371432868 0.00058
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr) rs6405 0.00049
NM_001395413.1(POR):c.390C>T (p.Asn130=) rs181837747 0.00049
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477 0.00047
NM_001395413.1(POR):c.1521G>A (p.Ala507=) rs368697465 0.00046
NM_000198.4(HSD3B2):c.1062G>A (p.Glu354=) rs114064941 0.00041
NM_001395413.1(POR):c.1227C>T (p.Ser409=) rs41301424 0.00041
NM_000198.4(HSD3B2):c.613C>T (p.Leu205=) rs138811555 0.00036
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 0.00035
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201 0.00035
NM_000497.4(CYP11B1):c.294G>A (p.Glu98=) rs143211108 0.00034
NM_001395413.1(POR):c.1095G>A (p.Thr365=) rs150414675 0.00034
NM_000497.4(CYP11B1):c.*718T>G rs189479208 0.00032
NM_000497.4(CYP11B1):c.930A>G (p.Glu310=) rs148707144 0.00029
NM_001395413.1(POR):c.1228G>A (p.Gly410Ser) rs567904247 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_000102.4(CYP17A1):c.1458C>T (p.Ile486=) rs147557447 0.00023
NM_001395413.1(POR):c.1482G>T (p.Leu494=) rs370326231 0.00023
NM_001395413.1(POR):c.180-10T>C rs374111607 0.00017
NM_000198.4(HSD3B2):c.124T>C (p.Leu42=) rs370732845 0.00016
NM_000198.4(HSD3B2):c.631C>T (p.Leu211=) rs143038843 0.00016
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546 0.00016
NM_001395413.1(POR):c.1661-16G>A rs377723544 0.00016
NM_001395413.1(POR):c.1776C>T (p.Asn592=) rs782559723 0.00015
NM_001395413.1(POR):c.822-18T>G rs377191310 0.00015
NM_000497.4(CYP11B1):c.89G>A (p.Arg30Gln) rs201103987 0.00014
NM_000198.4(HSD3B2):c.308-8G>A rs371712928 0.00013
NM_000497.4(CYP11B1):c.395+10G>A rs768465089 0.00013
NM_001395413.1(POR):c.335C>T (p.Ala112Val) rs199634961 0.00013
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545 0.00012
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493 0.00011
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=) rs587675471 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.1191G>A (p.Ser397=) rs372401863 0.00010
NM_001395413.1(POR):c.1578G>A (p.Thr526=) rs371795413 0.00010
NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile) rs72559703 0.00009
NM_000349.3(STAR):c.759G>A (p.Lys253=) rs146000965 0.00009
NM_001395413.1(POR):c.1806+7C>T rs72557951 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_000102.4(CYP17A1):c.1194G>A (p.Ala398=) rs201222065 0.00008
NM_000198.4(HSD3B2):c.549G>A (p.Ala183=) rs33932258 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_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071 0.00007
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) rs5293 0.00007
NM_000198.4(HSD3B2):c.714T>C (p.Ala238=) rs745608432 0.00006
NM_000349.3(STAR):c.738C>T (p.Asp246=) rs758031518 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.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_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) rs376207606 0.00005
NM_000198.4(HSD3B2):c.143-7C>T rs200483303 0.00005
NM_000198.4(HSD3B2):c.246C>T (p.Ala82=) rs587717286 0.00005
NM_000349.3(STAR):c.402T>C (p.Tyr134=) rs144881901 0.00005
NM_000497.4(CYP11B1):c.157C>T (p.Leu53=) rs61751135 0.00005
NM_001395413.1(POR):c.888C>T (p.Thr296=) rs180683888 0.00005
NM_001395413.1(POR):c.990C>T (p.Leu330=) rs376830846 0.00005
NM_000349.3(STAR):c.64+7G>C rs769781083 0.00004
NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=) rs576292844 0.00004
NM_000497.4(CYP11B1):c.537C>T (p.Asn179=) rs779461311 0.00004
NM_000497.4(CYP11B1):c.561C>T (p.Asp187=) rs772530391 0.00004
NM_001395413.1(POR):c.1020C>T (p.Ala340=) rs72557942 0.00004
NM_001395413.1(POR):c.1389+15T>A rs782664345 0.00004
NM_001395413.1(POR):c.1661-4G>A rs372733766 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.938+10G>A rs781980999 0.00004
NM_000102.4(CYP17A1):c.831T>C (p.Asn277=) rs1043151688 0.00003
NM_000497.4(CYP11B1):c.222A>G (p.Glu74=) rs200096159 0.00003
NM_000497.4(CYP11B1):c.945C>T (p.Ser315=) rs372647044 0.00003
NM_001395413.1(POR):c.1057+20C>T rs782720450 0.00003
NM_001395413.1(POR):c.1176C>T (p.Tyr392=) rs782192787 0.00003
NM_001395413.1(POR):c.1390-14G>A rs782583370 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.229-10C>A rs542774696 0.00003
NM_001395413.1(POR):c.315C>T (p.Tyr105=) rs782376709 0.00003
NM_001395413.1(POR):c.723-13C>T rs372119575 0.00003
NM_000102.4(CYP17A1):c.654C>T (p.Val218=) rs375350911 0.00002
NM_000198.4(HSD3B2):c.258T>C (p.Asp86=) rs996323669 0.00002
NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=) rs765770519 0.00002
NM_001395413.1(POR):c.1143G>A (p.Pro381=) rs375444057 0.00002
NM_001395413.1(POR):c.1389+10G>A rs782345141 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.1881C>T (p.Tyr627=) rs113741710 0.00002
NM_001395413.1(POR):c.1926C>T (p.Thr642=) rs557596726 0.00002
NM_001395413.1(POR):c.711C>T (p.Gly237=) rs374115833 0.00002
NM_000102.4(CYP17A1):c.1233G>A (p.Gln411=) rs755050448 0.00001
NM_000102.4(CYP17A1):c.276C>T (p.Asp92=) rs535575638 0.00001
NM_000102.4(CYP17A1):c.318C>T (p.Ser106=) rs766679884 0.00001
NM_000102.4(CYP17A1):c.741T>C (p.Leu247=) rs778591928 0.00001
NM_000176.3(NR3C1):c.1570A>G (p.Thr524Ala) rs567965061 0.00001
NM_000198.4(HSD3B2):c.228G>A (p.Ser76=) rs767147330 0.00001
NM_000198.4(HSD3B2):c.411C>A (p.Ile137=) rs374909270 0.00001
NM_000198.4(HSD3B2):c.746G>A (p.Arg249Gln) rs751984843 0.00001
NM_000198.4(HSD3B2):c.924C>T (p.Tyr308=) rs587775183 0.00001
NM_000349.3(STAR):c.64+9T>C rs761733155 0.00001
NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=) rs776234575 0.00001
NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=) rs775013399 0.00001
NM_000497.4(CYP11B1):c.270T>C (p.Cys90=) rs778601992 0.00001
NM_000497.4(CYP11B1):c.396-9C>T rs1324660372 0.00001
NM_000497.4(CYP11B1):c.596-8C>T rs1201914437 0.00001
NM_000497.4(CYP11B1):c.627G>T (p.Leu209=) rs1377203108 0.00001
NM_000497.4(CYP11B1):c.948G>C (p.Val316=) rs778295450 0.00001
NM_001018077.1(NR3C1):c.-445A>G rs527246890 0.00001
NM_001395413.1(POR):c.1029C>T (p.Asp343=) rs201568454 0.00001
NM_001395413.1(POR):c.1057+11C>T rs782029570 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.1240-16C>T rs1266871005 0.00001
NM_001395413.1(POR):c.1374C>T (p.Ile458=) rs1003383217 0.00001
NM_001395413.1(POR):c.1575C>T (p.Thr525=) rs933264724 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_001395413.1(POR):c.1968G>A (p.Ala656=) rs782446980 0.00001
NM_001395413.1(POR):c.2013C>T (p.Tyr671=) rs1554559514 0.00001
NM_001395413.1(POR):c.438C>T (p.Thr146=) rs782302163 0.00001
NM_001395413.1(POR):c.821+15C>T rs540000393 0.00001
NM_001395413.1(POR):c.825C>T (p.Pro275=) rs782052242 0.00001
NM_000102.4(CYP17A1):c.180T>C (p.Tyr60=) rs61754264
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=) rs1844174531
NM_000102.4(CYP17A1):c.315G>A (p.Ala105=) rs150698224
NM_000176.3(NR3C1):c.*1220_*1225dup rs72542761
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=) rs116342586
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=) rs114527791
NM_000198.4(HSD3B2):c.51G>A (p.Arg17=) rs757957605
NM_000198.4(HSD3B2):c.624T>C (p.Asn208=) rs1040579140
NM_000198.4(HSD3B2):c.867G>C (p.Leu289=) rs1292390178
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.158G>T (p.Arg53Leu) rs529036391
NM_000349.3(STAR):c.720G>C (p.Thr240=) rs768179486
NM_000497.4(CYP11B1):c.*1555del rs548944247
NM_000497.4(CYP11B1):c.*193A>C rs61752798
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=) rs4998902
NM_000497.4(CYP11B1):c.645C>T (p.Ser215=) rs199525592
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=) rs193922543
NM_000500.9(CYP21A2):c.292+45_292+46insTGT rs1422458709
NM_000500.9(CYP21A2):c.293-136C>T rs1582301685
NM_001018077.1(NR3C1):c.-958G>T rs72555797
NM_001395413.1(POR):c.1000C>T (p.Leu334=)
NM_001395413.1(POR):c.1023C>T (p.Asp341=)
NM_001395413.1(POR):c.102C>T (p.Ile34=) rs371758475
NM_001395413.1(POR):c.1032C>T (p.Val344=)
NM_001395413.1(POR):c.1051C>T (p.Leu351=)
NM_001395413.1(POR):c.1053G>A (p.Leu351=)
NM_001395413.1(POR):c.1057+11C>G
NM_001395413.1(POR):c.1057+11_1057+12del
NM_001395413.1(POR):c.1057+12A>C
NM_001395413.1(POR):c.1057+17G>A
NM_001395413.1(POR):c.1057+18G>A
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.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.1140G>A (p.Pro380=)
NM_001395413.1(POR):c.1149C>G (p.Thr383=)
NM_001395413.1(POR):c.1161C>T (p.Tyr387=)
NM_001395413.1(POR):c.1170G>A (p.Ala390=)
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.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.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.1240-5C>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.1320C>T (p.Pro440=)
NM_001395413.1(POR):c.1323C>T (p.Ile441=)
NM_001395413.1(POR):c.1347G>A (p.Pro449=)
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.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.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.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>T (p.Tyr478=)
NM_001395413.1(POR):c.143AAG[2] (p.Glu50del) rs72553987
NM_001395413.1(POR):c.1446T>A (p.Ala482=)
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.1500C>T (p.Ala500=)
NM_001395413.1(POR):c.1506G>A (p.Glu502=)
NM_001395413.1(POR):c.1512C>G (p.Gly504=)
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.1548C>T (p.Ser516=)
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.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.1605C>T (p.Thr535=)
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.1638G>A (p.Glu546=)
NM_001395413.1(POR):c.1653A>G (p.Arg551=)
NM_001395413.1(POR):c.1660+10G>T
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.1661-5C>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.1680G>A (p.Thr560=)
NM_001395413.1(POR):c.1689C>T (p.Tyr563=)
NM_001395413.1(POR):c.1692C>T (p.Tyr564=)
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.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.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.1807-4C>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.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.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.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>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>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.1995G>A (p.Leu665=)
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.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.229-8T>C
NM_001395413.1(POR):c.229-9C>G
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.252C>T (p.Tyr84=)
NM_001395413.1(POR):c.264G>A (p.Thr88=)
NM_001395413.1(POR):c.270T>C (p.Thr90=)
NM_001395413.1(POR):c.285C>T (p.Ala95=) rs1554557307
NM_001395413.1(POR):c.291C>A (p.Arg97=)
NM_001395413.1(POR):c.300G>A (p.Lys100=)
NM_001395413.1(POR):c.303C>T (p.Asp101=)
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.36G>A (p.Val12=) rs781862803
NM_001395413.1(POR):c.384C>T (p.Ile128=) rs782166276
NM_001395413.1(POR):c.39C>T (p.Ser13=)
NM_001395413.1(POR):c.408C>T (p.Cys136=)
NM_001395413.1(POR):c.423T>C (p.Gly141=)
NM_001395413.1(POR):c.447C>T (p.Ala149=)
NM_001395413.1(POR):c.450G>A (p.Gln150=)
NM_001395413.1(POR):c.453C>T (p.Asp151=)
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.483G>A (p.Val161=)
NM_001395413.1(POR):c.498C>T (p.Val166=)
NM_001395413.1(POR):c.507+18T>G
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.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.531C>T (p.Thr177=) rs782409308
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.561C>T (p.Tyr187=)
NM_001395413.1(POR):c.562G>A (p.Val188Met) rs201513102
NM_001395413.1(POR):c.585C>T (p.Leu195=)
NM_001395413.1(POR):c.588C>A (p.Gly196=)
NM_001395413.1(POR):c.600C>T (p.Ile200=)
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.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.651C>T (p.Ile217=)
NM_001395413.1(POR):c.658C>A (p.Arg220=)
NM_001395413.1(POR):c.681G>T (p.Val227=)
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.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.771G>A (p.Lys257=)
NM_001395413.1(POR):c.774G>T (p.Val258=)
NM_001395413.1(POR):c.793C>A (p.Arg265=)
NM_001395413.1(POR):c.798G>T (p.Leu266=)
NM_001395413.1(POR):c.804C>T (p.Ser268=) rs201598971
NM_001395413.1(POR):c.807C>T (p.Tyr269=)
NM_001395413.1(POR):c.810G>A (p.Glu270=)
NM_001395413.1(POR):c.813C>T (p.Asn271=)
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+20C>T
NM_001395413.1(POR):c.821+9A>G
NM_001395413.1(POR):c.821+9_821+24del
NM_001395413.1(POR):c.822-11T>C
NM_001395413.1(POR):c.822-11_822-9del rs782696938
NM_001395413.1(POR):c.822-4C>G
NM_001395413.1(POR):c.822-5C>T
NM_001395413.1(POR):c.834C>T (p.Ala278=)
NM_001395413.1(POR):c.837G>A (p.Lys279=)
NM_001395413.1(POR):c.843G>A (p.Pro281=)
NM_001395413.1(POR):c.855A>G (p.Ala285=)
NM_001395413.1(POR):c.858C>A (p.Val286=)
NM_001395413.1(POR):c.874C>T (p.Leu292=)
NM_001395413.1(POR):c.87T>C (p.Ile29=)
NM_001395413.1(POR):c.913T>C (p.Leu305=)
NM_001395413.1(POR):c.924G>A (p.Ser308=)
NM_001395413.1(POR):c.924G>C (p.Ser308=) rs782746771
NM_001395413.1(POR):c.930C>T (p.Ser310=)
NM_001395413.1(POR):c.936C>T (p.Ile312=)
NM_001395413.1(POR):c.938+13A>G
NM_001395413.1(POR):c.938+16G>A
NM_001395413.1(POR):c.938+18C>T
NM_001395413.1(POR):c.938+22_938+24dup
NM_001395413.1(POR):c.938+23_938+24del
NM_001395413.1(POR):c.938+7G>A
NM_001395413.1(POR):c.939-20A>G
NM_001395413.1(POR):c.939-21_939-17del
NM_001395413.1(POR):c.939-6C>A
NM_001395413.1(POR):c.939-6C>T
NM_001395413.1(POR):c.957C>T (p.His319=)
NM_001395413.1(POR):c.96G>A (p.Ser32=)
NM_001395413.1(POR):c.984T>C (p.Ser328=)
NM_001395413.1(POR):c.993C>G (p.Val331=)

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.