ClinVar Miner

List of variants in gene CTR9 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 543
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014633.5(CTR9):c.1686+247A>G rs7112328 0.99971
NM_014633.5(CTR9):c.849+284G>A rs2029891 0.99887
NM_014633.5(CTR9):c.385-194T>C rs4910187 0.99885
NM_014633.5(CTR9):c.2885+87G>T rs7103774 0.94400
NC_000011.10:g.10751008A>G rs2279696 0.36721
NM_014633.5(CTR9):c.45+45G>A rs2279697 0.34228
NM_014633.5(CTR9):c.2227-51G>A rs2132517 0.28332
NM_014633.5(CTR9):c.592+125T>G rs6484483 0.28151
NM_014633.5(CTR9):c.2727+305C>T rs17330399 0.19344
NM_014633.5(CTR9):c.2372+147A>G rs10500731 0.11916
NM_014633.5(CTR9):c.2580+79C>A rs11042957 0.08821
NM_014633.5(CTR9):c.502+68G>A rs2270621 0.07850
NM_014633.5(CTR9):c.592+116A>G rs75182402 0.05688
NM_014633.5(CTR9):c.593-325T>G rs79354563 0.04928
NM_014633.5(CTR9):c.502+150T>C rs73417760 0.04568
NM_014633.5(CTR9):c.2110-229A>G rs2242359 0.04485
NM_014633.5(CTR9):c.2728-169C>A rs7104045 0.03633
NM_014633.5(CTR9):c.384+194T>C rs117966147 0.02396
NM_014633.5(CTR9):c.1598-292G>A rs73417769 0.02198
NM_014633.5(CTR9):c.1686+290T>C rs16908279 0.02190
NC_000011.10:g.10750875T>C rs111344057 0.02132
NM_014633.5(CTR9):c.385-59T>C rs115224889 0.01632
NM_014633.5(CTR9):c.2445-13T>C rs117213008 0.01583
NM_014633.5(CTR9):c.2728-97C>T rs117224527 0.01535
NM_014633.5(CTR9):c.3154T>C (p.Cys1052Arg) rs35696189 0.01185
NM_014633.5(CTR9):c.1687-3C>T rs76650154 0.01168
NM_014633.5(CTR9):c.2886-87A>G rs79355153 0.01054
NM_014633.5(CTR9):c.850-23T>C rs11822861 0.00890
NM_014633.5(CTR9):c.2373-171G>A rs115634611 0.00889
NM_014633.5(CTR9):c.762T>C (p.Gly254=) rs116362368 0.00837
NM_014633.5(CTR9):c.1687-136G>A rs573689289 0.00795
NM_014633.5(CTR9):c.3195G>A (p.Lys1065=) rs34200650 0.00749
NM_014633.5(CTR9):c.144+132G>A rs112818649 0.00747
NC_000011.10:g.10750932T>C rs112026705 0.00739
NM_014633.5(CTR9):c.592+265A>G rs142214900 0.00688
NM_014633.5(CTR9):c.145-57C>T rs116871508 0.00651
NM_014633.5(CTR9):c.46-95G>A rs192886164 0.00645
NM_014633.5(CTR9):c.2886-215T>G rs77933876 0.00600
NM_014633.5(CTR9):c.742-273C>T rs142790875 0.00377
NM_014633.5(CTR9):c.2886-139C>T rs191895962 0.00343
NM_014633.5(CTR9):c.240A>G (p.Lys80=) rs35582466 0.00307
NM_014633.5(CTR9):c.3449A>G (p.Glu1150Gly) rs35023148 0.00137
NM_014633.5(CTR9):c.2313T>C (p.Asp771=) rs138718780 0.00116
NM_014633.5(CTR9):c.3149A>G (p.Lys1050Arg) rs141131642 0.00071
NM_014633.5(CTR9):c.3211G>A (p.Gly1071Ser) rs35766432 0.00071
NM_014633.5(CTR9):c.2097C>T (p.Ser699=) rs140813178 0.00068
NM_014633.5(CTR9):c.2372+4A>C rs199735513 0.00053
NM_014633.5(CTR9):c.1873-4A>G rs374419778 0.00051
NM_014633.5(CTR9):c.2445-8T>C rs377011136 0.00050
NM_014633.5(CTR9):c.3157G>T (p.Ala1053Ser) rs113891837 0.00044
NM_014633.5(CTR9):c.3146G>A (p.Arg1049Gln) rs143951897 0.00042
NM_014633.5(CTR9):c.417A>G (p.Leu139=) rs374392090 0.00029
NM_014633.5(CTR9):c.2140C>T (p.His714Tyr) rs200624749 0.00028
NM_014633.5(CTR9):c.3453G>A (p.Ser1151=) rs141609504 0.00026
NM_014633.5(CTR9):c.2885+9A>G rs371748881 0.00025
NM_014633.5(CTR9):c.3284G>A (p.Arg1095Lys) rs141434094 0.00021
NM_014633.5(CTR9):c.2942C>G (p.Pro981Arg) rs75206030 0.00018
NM_014633.5(CTR9):c.741+3A>G rs367762632 0.00016
NM_014633.5(CTR9):c.2775T>C (p.Thr925=) rs551066197 0.00015
NM_014633.5(CTR9):c.585A>G (p.Gly195=) rs138979886 0.00014
NM_014633.5(CTR9):c.2591G>A (p.Arg864His) rs542399971 0.00011
NM_014633.5(CTR9):c.594G>A (p.Ala198=) rs754545267 0.00010
NM_014633.5(CTR9):c.1960+3G>A rs368111265 0.00009
NM_014633.5(CTR9):c.3244G>A (p.Asp1082Asn) rs138871050 0.00009
NM_014633.5(CTR9):c.3292G>A (p.Gly1098Ser) rs376210239 0.00009
NM_014633.5(CTR9):c.2193C>G (p.Gly731=) rs145998522 0.00007
NM_014633.5(CTR9):c.2988G>A (p.Lys996=) rs751357815 0.00007
NM_014633.5(CTR9):c.3487A>G (p.Arg1163Gly) rs150093532 0.00007
NM_014633.5(CTR9):c.2352A>G (p.Lys784=) rs774750738 0.00006
NM_014633.5(CTR9):c.2372+8T>A rs186063645 0.00006
NM_014633.5(CTR9):c.2745A>G (p.Gly915=) rs754272063 0.00006
NM_014633.5(CTR9):c.593-19G>A rs758161138 0.00006
NM_014633.5(CTR9):c.2700G>A (p.Glu900=) rs759693641 0.00005
NM_014633.5(CTR9):c.2954G>A (p.Arg985His) rs372648972 0.00005
NM_014633.5(CTR9):c.3063G>A (p.Ser1021=) rs182230438 0.00005
NM_014633.5(CTR9):c.3301C>A (p.Gln1101Lys) rs760503977 0.00005
NM_014633.5(CTR9):c.2094C>A (p.Ile698=) rs148030732 0.00004
NM_014633.5(CTR9):c.2226+8G>T rs756857732 0.00004
NM_014633.5(CTR9):c.2237T>C (p.Val746Ala) rs377098949 0.00004
NM_014633.5(CTR9):c.2516G>A (p.Arg839Gln) rs756950246 0.00004
NM_014633.5(CTR9):c.2643T>C (p.Tyr881=) rs779596882 0.00004
NM_014633.5(CTR9):c.273G>A (p.Ala91=) rs182903182 0.00004
NM_014633.5(CTR9):c.3138C>T (p.Asp1046=) rs547885452 0.00004
NM_014633.5(CTR9):c.3220C>T (p.Arg1074Trp) rs202230543 0.00004
NM_014633.5(CTR9):c.3252C>T (p.Asp1084=) rs943396191 0.00004
NM_014633.5(CTR9):c.385-13C>T rs747431941 0.00004
NM_014633.5(CTR9):c.568T>C (p.Leu190=) rs768009915 0.00004
NM_014633.5(CTR9):c.75G>A (p.Pro25=) rs138850547 0.00004
NM_014633.5(CTR9):c.2590C>T (p.Arg864Cys) rs751690001 0.00003
NM_014633.5(CTR9):c.2727+17G>C rs767457304 0.00003
NM_014633.5(CTR9):c.2791A>G (p.Ile931Val) rs144369097 0.00003
NM_014633.5(CTR9):c.2826C>T (p.Gly942=) rs772169144 0.00003
NM_014633.5(CTR9):c.3358G>A (p.Asp1120Asn) rs752994293 0.00003
NM_014633.5(CTR9):c.3365G>A (p.Arg1122His) rs367908001 0.00003
NM_014633.5(CTR9):c.669A>G (p.Arg223=) rs761296011 0.00003
NM_014633.5(CTR9):c.693C>T (p.Cys231=) rs149531420 0.00003
NM_014633.5(CTR9):c.2553G>A (p.Leu851=) rs986767611 0.00002
NM_014633.5(CTR9):c.2751T>C (p.Phe917=) rs367767575 0.00002
NM_014633.5(CTR9):c.2853G>C (p.Glu951Asp) rs568774868 0.00002
NM_014633.5(CTR9):c.3096-17A>G rs1385976000 0.00002
NM_014633.5(CTR9):c.3230G>A (p.Arg1077Gln) rs758492695 0.00002
NM_014633.5(CTR9):c.3471C>T (p.Asn1157=) rs771049116 0.00002
NM_014633.5(CTR9):c.3512A>G (p.Asp1171Gly) rs530409686 0.00002
NM_014633.5(CTR9):c.502+7G>A rs201714232 0.00002
NM_014633.5(CTR9):c.804C>T (p.Asn268=) rs1171517168 0.00002
NM_014633.5(CTR9):c.1029A>G (p.Pro343=) rs759360920 0.00001
NM_014633.5(CTR9):c.1598-4T>C rs759188831 0.00001
NM_014633.5(CTR9):c.1718A>G (p.Asn573Ser) rs567272474 0.00001
NM_014633.5(CTR9):c.171A>G (p.Thr57=) rs1352971332 0.00001
NM_014633.5(CTR9):c.1800T>C (p.Asp600=) rs199500868 0.00001
NM_014633.5(CTR9):c.2000G>A (p.Arg667His) rs753928657 0.00001
NM_014633.5(CTR9):c.2034A>G (p.Ala678=) rs769380420 0.00001
NM_014633.5(CTR9):c.2085G>A (p.Lys695=) rs143726355 0.00001
NM_014633.5(CTR9):c.2101G>A (p.Val701Ile) rs1335030370 0.00001
NM_014633.5(CTR9):c.2109+20G>T rs1038634085 0.00001
NM_014633.5(CTR9):c.2145A>G (p.Gln715=) rs1863121582 0.00001
NM_014633.5(CTR9):c.2149A>G (p.Thr717Ala) rs1428146590 0.00001
NM_014633.5(CTR9):c.2160A>C (p.Val720=) rs773742754 0.00001
NM_014633.5(CTR9):c.2174G>A (p.Arg725Gln) rs375227779 0.00001
NM_014633.5(CTR9):c.2580G>A (p.Gln860=) rs748533689 0.00001
NM_014633.5(CTR9):c.2586G>A (p.Glu862=) rs926530537 0.00001
NM_014633.5(CTR9):c.2646G>T (p.Val882=) rs143970436 0.00001
NM_014633.5(CTR9):c.2670G>A (p.Met890Ile) rs761603338 0.00001
NM_014633.5(CTR9):c.2684C>G (p.Thr895Ser) rs1194226061 0.00001
NM_014633.5(CTR9):c.2727+8A>G rs1383811772 0.00001
NM_014633.5(CTR9):c.2727+9T>C rs1435110394 0.00001
NM_014633.5(CTR9):c.2768A>G (p.Asp923Gly) rs754558970 0.00001
NM_014633.5(CTR9):c.2886-3A>G rs752315744 0.00001
NM_014633.5(CTR9):c.2919T>C (p.Asp973=) rs1863213168 0.00001
NM_014633.5(CTR9):c.2953C>T (p.Arg985Cys) rs768858907 0.00001
NM_014633.5(CTR9):c.2955T>C (p.Arg985=) rs1452138805 0.00001
NM_014633.5(CTR9):c.2983-18A>C rs374942142 0.00001
NM_014633.5(CTR9):c.3095+7T>G rs374641645 0.00001
NM_014633.5(CTR9):c.3118A>G (p.Asn1040Asp) rs1863279935 0.00001
NM_014633.5(CTR9):c.3120C>T (p.Asn1040=) rs559391605 0.00001
NM_014633.5(CTR9):c.3159C>T (p.Ala1053=) rs1229042009 0.00001
NM_014633.5(CTR9):c.3177C>T (p.Ser1059=) rs369103252 0.00001
NM_014633.5(CTR9):c.3178G>A (p.Asp1060Asn) rs748843627 0.00001
NM_014633.5(CTR9):c.3181G>A (p.Glu1061Lys) rs770524055 0.00001
NM_014633.5(CTR9):c.3204C>T (p.Ser1068=) rs149166333 0.00001
NM_014633.5(CTR9):c.3221G>A (p.Arg1074Gln) rs750516152 0.00001
NM_014633.5(CTR9):c.3228A>G (p.Pro1076=) rs965758823 0.00001
NM_014633.5(CTR9):c.3238C>T (p.Arg1080Trp) rs751972247 0.00001
NM_014633.5(CTR9):c.3290C>T (p.Ser1097Phe) rs1303517696 0.00001
NM_014633.5(CTR9):c.3308A>G (p.Asp1103Gly) rs201305345 0.00001
NM_014633.5(CTR9):c.3339C>G (p.His1113Gln) rs947997214 0.00001
NM_014633.5(CTR9):c.3356A>G (p.Asn1119Ser) rs375010070 0.00001
NM_014633.5(CTR9):c.3425G>C (p.Gly1142Ala) rs767925784 0.00001
NM_014633.5(CTR9):c.3452C>T (p.Ser1151Leu) rs754443800 0.00001
NM_014633.5(CTR9):c.360C>T (p.Ala120=) rs769502726 0.00001
NM_014633.5(CTR9):c.45+12G>T rs1393042585 0.00001
NM_014633.5(CTR9):c.45+5G>T rs758205417 0.00001
NM_014633.5(CTR9):c.45+6T>C rs779754878 0.00001
NM_014633.5(CTR9):c.503-15T>A rs776605267 0.00001
NM_014633.5(CTR9):c.524A>G (p.Asn175Ser) rs1449582408 0.00001
NM_014633.5(CTR9):c.593-8T>A rs779845463 0.00001
NM_014633.5(CTR9):c.601C>T (p.Arg201Cys) rs748147577 0.00001
NM_014633.5(CTR9):c.718G>A (p.Val240Ile) rs767076500 0.00001
NM_014633.5(CTR9):c.741+4T>C rs1405152063 0.00001
NM_014633.5(CTR9):c.742-15A>G rs765727374 0.00001
NM_014633.5(CTR9):c.819C>T (p.Asn273=) rs763594613 0.00001
NM_014633.5(CTR9):c.84T>C (p.Asp28=) rs1476824209 0.00001
NM_014633.5(CTR9):c.871C>T (p.Leu291=) rs751758983 0.00001
NM_014633.5(CTR9):c.951T>C (p.His317=) rs749736368 0.00001
NM_014633.5(CTR9):c.958-6C>A rs768359394 0.00001
NM_014633.5(CTR9):c.972A>G (p.Gln324=) rs1039184387 0.00001
NM_014633.5(CTR9):c.1008C>T (p.Ala336=)
NM_014633.5(CTR9):c.1047A>G (p.Gln349=)
NM_014633.5(CTR9):c.1054A>G (p.Ile352Val)
NM_014633.5(CTR9):c.1059T>C (p.Tyr353=)
NM_014633.5(CTR9):c.1061G>A (p.Arg354Gln)
NM_014633.5(CTR9):c.1079C>T (p.Ala360Val)
NM_014633.5(CTR9):c.110A>G (p.Glu37Gly)
NM_014633.5(CTR9):c.111A>T (p.Glu37Asp)
NM_014633.5(CTR9):c.114C>T (p.His38=)
NM_014633.5(CTR9):c.124C>T (p.His42Tyr) rs1862825358
NM_014633.5(CTR9):c.13T>C (p.Ser5Pro)
NM_014633.5(CTR9):c.144+16G>C
NM_014633.5(CTR9):c.144+3C>T
NM_014633.5(CTR9):c.144+4A>G
NM_014633.5(CTR9):c.144+4A>T rs2135353214
NM_014633.5(CTR9):c.144G>T (p.Ala48=)
NM_014633.5(CTR9):c.1598-16T>C
NM_014633.5(CTR9):c.1598-17T>C
NM_014633.5(CTR9):c.1628A>G (p.Asp543Gly)
NM_014633.5(CTR9):c.1641T>C (p.Phe547=) rs2135373029
NM_014633.5(CTR9):c.1653A>G (p.Ser551=) rs1217775662
NM_014633.5(CTR9):c.165A>G (p.Gly55=) rs1355944037
NM_014633.5(CTR9):c.1686+9T>C
NM_014633.5(CTR9):c.1687-137del rs201006625
NM_014633.5(CTR9):c.1687-139AAAG[2] rs200086979
NM_014633.5(CTR9):c.1687-236A>C rs1811656
NM_014633.5(CTR9):c.1687-304T>G rs1811655
NM_014633.5(CTR9):c.1699G>T (p.Ala567Ser)
NM_014633.5(CTR9):c.1718A>T (p.Asn573Ile)
NM_014633.5(CTR9):c.1728G>A (p.Leu576=)
NM_014633.5(CTR9):c.1734A>G (p.Lys578=) rs1294910212
NM_014633.5(CTR9):c.1740A>G (p.Glu580=)
NM_014633.5(CTR9):c.1760A>C (p.Lys587Thr) rs2135374831
NM_014633.5(CTR9):c.1782G>A (p.Gln594=)
NM_014633.5(CTR9):c.1787C>G (p.Ser596Cys)
NM_014633.5(CTR9):c.17del (p.Ile6fs)
NM_014633.5(CTR9):c.1818C>A (p.Ala606=)
NM_014633.5(CTR9):c.1827C>T (p.Asn609=)
NM_014633.5(CTR9):c.1828G>A (p.Val610Met)
NM_014633.5(CTR9):c.1854C>T (p.Pro618=)
NM_014633.5(CTR9):c.1864C>G (p.Arg622Gly)
NM_014633.5(CTR9):c.1873-3T>C
NM_014633.5(CTR9):c.1875A>G (p.Glu625=)
NM_014633.5(CTR9):c.1879C>T (p.Arg627Cys)
NM_014633.5(CTR9):c.18C>T (p.Ile6=)
NM_014633.5(CTR9):c.1907A>G (p.Tyr636Cys)
NM_014633.5(CTR9):c.190T>C (p.Leu64=)
NM_014633.5(CTR9):c.190T>G (p.Leu64Val)
NM_014633.5(CTR9):c.1920C>G (p.Leu640=) rs2135375217
NM_014633.5(CTR9):c.1931C>G (p.Ala644Gly) rs77866426
NM_014633.5(CTR9):c.1935G>C (p.Lys645Asn)
NM_014633.5(CTR9):c.1952A>G (p.Asn651Ser)
NM_014633.5(CTR9):c.1960+15T>A
NM_014633.5(CTR9):c.1960+18G>C
NM_014633.5(CTR9):c.1960+19T>C
NM_014633.5(CTR9):c.1960+1G>T
NM_014633.5(CTR9):c.1960+20A>G
NM_014633.5(CTR9):c.1961-12T>G
NM_014633.5(CTR9):c.1961-5T>G rs1863091275
NM_014633.5(CTR9):c.1978A>G (p.Lys660Glu)
NM_014633.5(CTR9):c.1989T>C (p.Phe663=)
NM_014633.5(CTR9):c.1998T>C (p.Ala666=)
NM_014633.5(CTR9):c.2027C>T (p.Ala676Val) rs1863092676
NM_014633.5(CTR9):c.2036A>G (p.Asp679Gly)
NM_014633.5(CTR9):c.2038A>G (p.Ile680Val)
NM_014633.5(CTR9):c.2045A>G (p.Asp682Gly)
NM_014633.5(CTR9):c.2068A>G (p.Ile690Val)
NM_014633.5(CTR9):c.2091C>T (p.Tyr697=)
NM_014633.5(CTR9):c.2094C>G (p.Ile698Met)
NM_014633.5(CTR9):c.2100C>A (p.Ala700=)
NM_014633.5(CTR9):c.2100C>T (p.Ala700=)
NM_014633.5(CTR9):c.2109+11C>T
NM_014633.5(CTR9):c.2109+14_2109+15insC
NM_014633.5(CTR9):c.2109+17C>T
NM_014633.5(CTR9):c.2109+4A>G
NM_014633.5(CTR9):c.2109+6_2109+7insT rs1863094252
NM_014633.5(CTR9):c.2109+7G>T rs1863094297
NM_014633.5(CTR9):c.2109+8C>A
NM_014633.5(CTR9):c.2109+8C>T rs1348336255
NM_014633.5(CTR9):c.2109G>A (p.Met703Ile)
NM_014633.5(CTR9):c.2110-6C>T
NM_014633.5(CTR9):c.2124C>T (p.Leu708=)
NM_014633.5(CTR9):c.2126G>A (p.Arg709Gln)
NM_014633.5(CTR9):c.2135A>G (p.Tyr712Cys) rs991851483
NM_014633.5(CTR9):c.2142C>T (p.His714=) rs2135378291
NM_014633.5(CTR9):c.2158G>C (p.Val720Leu)
NM_014633.5(CTR9):c.2161C>T (p.Leu721Phe)
NM_014633.5(CTR9):c.2163C>A (p.Leu721=)
NM_014633.5(CTR9):c.2163C>G (p.Leu721=)
NM_014633.5(CTR9):c.2165A>C (p.Tyr722Ser)
NM_014633.5(CTR9):c.2165A>G (p.Tyr722Cys) rs1376432143
NM_014633.5(CTR9):c.2173C>T (p.Arg725Trp)
NM_014633.5(CTR9):c.2182T>C (p.Phe728Leu)
NM_014633.5(CTR9):c.2186A>G (p.Lys729Arg)
NM_014633.5(CTR9):c.2187G>A (p.Lys729=)
NM_014633.5(CTR9):c.2189G>A (p.Cys730Tyr)
NM_014633.5(CTR9):c.2226+14A>G
NM_014633.5(CTR9):c.2226+16G>A
NM_014633.5(CTR9):c.2226+4A>T rs1047396415
NM_014633.5(CTR9):c.2227-3C>T rs753565587
NM_014633.5(CTR9):c.2234A>G (p.His745Arg) rs2135378738
NM_014633.5(CTR9):c.2240C>T (p.Ala747Val)
NM_014633.5(CTR9):c.225T>C (p.Tyr75=)
NM_014633.5(CTR9):c.2260A>T (p.Met754Leu)
NM_014633.5(CTR9):c.2291T>C (p.Leu764Ser)
NM_014633.5(CTR9):c.2300C>G (p.Ser767Cys)
NM_014633.5(CTR9):c.2307G>A (p.Leu769=)
NM_014633.5(CTR9):c.2310del (p.Asp771fs) rs2135378826
NM_014633.5(CTR9):c.2325T>C (p.Asn775=) rs2135378851
NM_014633.5(CTR9):c.2327T>G (p.Leu776Arg)
NM_014633.5(CTR9):c.234T>C (p.His78=)
NM_014633.5(CTR9):c.2368C>T (p.His790Tyr) rs772369446
NM_014633.5(CTR9):c.236A>G (p.Glu79Gly) rs1862863978
NM_014633.5(CTR9):c.2373-11G>A
NM_014633.5(CTR9):c.2373-12C>T
NM_014633.5(CTR9):c.2373-19A>G rs2135380082
NM_014633.5(CTR9):c.2373-20T>C
NM_014633.5(CTR9):c.2373-23_2373-19del
NM_014633.5(CTR9):c.2408T>C (p.Met803Thr)
NM_014633.5(CTR9):c.2425C>G (p.Leu809Val)
NM_014633.5(CTR9):c.2436A>G (p.Thr812=)
NM_014633.5(CTR9):c.2444+10C>A
NM_014633.5(CTR9):c.2444+13T>C
NM_014633.5(CTR9):c.2445-12G>A
NM_014633.5(CTR9):c.2445-4C>T
NM_014633.5(CTR9):c.2474A>C (p.Gln825Pro)
NM_014633.5(CTR9):c.2475G>A (p.Gln825=) rs1863160565
NM_014633.5(CTR9):c.2482G>A (p.Val828Met) rs2135381389
NM_014633.5(CTR9):c.2485G>A (p.Ala829Thr)
NM_014633.5(CTR9):c.2488C>T (p.Arg830Trp)
NM_014633.5(CTR9):c.2489G>A (p.Arg830Gln)
NM_014633.5(CTR9):c.2494C>T (p.Arg832Cys)
NM_014633.5(CTR9):c.2515C>T (p.Arg839Trp)
NM_014633.5(CTR9):c.251C>T (p.Thr84Ile)
NM_014633.5(CTR9):c.2524C>T (p.Arg842Trp)
NM_014633.5(CTR9):c.2528C>T (p.Ala843Val) rs2135381456
NM_014633.5(CTR9):c.2533C>A (p.Gln845Lys)
NM_014633.5(CTR9):c.2536G>A (p.Glu846Lys)
NM_014633.5(CTR9):c.2559G>A (p.Arg853=) rs1271949752
NM_014633.5(CTR9):c.2572A>C (p.Lys858Gln)
NM_014633.5(CTR9):c.2580+6T>G
NM_014633.5(CTR9):c.2581-14A>G
NM_014633.5(CTR9):c.2581-15C>T
NM_014633.5(CTR9):c.2581-3T>C
NM_014633.5(CTR9):c.2581-4A>G
NM_014633.5(CTR9):c.2582A>G (p.Glu861Gly)
NM_014633.5(CTR9):c.2592T>A (p.Arg864=)
NM_014633.5(CTR9):c.2613A>G (p.Gln871=) rs2135382286
NM_014633.5(CTR9):c.2618A>G (p.Lys873Arg) rs2135382294
NM_014633.5(CTR9):c.2632C>T (p.Arg878Trp)
NM_014633.5(CTR9):c.2635G>T (p.Ala879Ser)
NM_014633.5(CTR9):c.264A>G (p.Thr88=)
NM_014633.5(CTR9):c.2678G>A (p.Gly893Asp) rs1863172533
NM_014633.5(CTR9):c.2690C>G (p.Ala897Gly)
NM_014633.5(CTR9):c.2690C>T (p.Ala897Val)
NM_014633.5(CTR9):c.2696A>C (p.Lys899Thr)
NM_014633.5(CTR9):c.2711G>A (p.Gly904Asp)
NM_014633.5(CTR9):c.2719G>A (p.Gly907Ser)
NM_014633.5(CTR9):c.2727+15C>G
NM_014633.5(CTR9):c.2727+5G>A
NM_014633.5(CTR9):c.2728-109del
NM_014633.5(CTR9):c.2728-109dup rs11386264
NM_014633.5(CTR9):c.2728-10T>C
NM_014633.5(CTR9):c.2728-6T>A
NM_014633.5(CTR9):c.2728-8G>A
NM_014633.5(CTR9):c.2728C>T (p.Arg910Cys)
NM_014633.5(CTR9):c.2740G>A (p.Gly914Arg)
NM_014633.5(CTR9):c.2765A>G (p.Asn922Ser)
NM_014633.5(CTR9):c.2777A>T (p.Asp926Val)
NM_014633.5(CTR9):c.2791A>T (p.Ile931Leu)
NM_014633.5(CTR9):c.2794T>C (p.Ser932Pro)
NM_014633.5(CTR9):c.2795C>G (p.Ser932Cys)
NM_014633.5(CTR9):c.279T>C (p.Tyr93=)
NM_014633.5(CTR9):c.2819G>A (p.Gly940Asp)
NM_014633.5(CTR9):c.2828G>A (p.Ser943Asn)
NM_014633.5(CTR9):c.2838A>G (p.Glu946=) rs2135383814
NM_014633.5(CTR9):c.2851G>A (p.Glu951Lys)
NM_014633.5(CTR9):c.285A>T (p.Gln95His)
NM_014633.5(CTR9):c.2867_2870del (p.Lys956fs) rs1863191798
NM_014633.5(CTR9):c.2868_2873del (p.Lys958_Lys959del) rs775516474
NM_014633.5(CTR9):c.286C>A (p.Gln96Lys)
NM_014633.5(CTR9):c.2885+125C>T
NM_014633.5(CTR9):c.2885+4A>G
NM_014633.5(CTR9):c.2885+6G>A
NM_014633.5(CTR9):c.2885+8C>A rs767093255
NM_014633.5(CTR9):c.2886-16G>A
NM_014633.5(CTR9):c.2897G>A (p.Gly966Glu)
NM_014633.5(CTR9):c.2897G>C (p.Gly966Ala)
NM_014633.5(CTR9):c.2899G>A (p.Glu967Lys)
NM_014633.5(CTR9):c.2900A>G (p.Glu967Gly)
NM_014633.5(CTR9):c.2900AAG[1] (p.Glu968del)
NM_014633.5(CTR9):c.2902G>A (p.Glu968Lys) rs1863212830
NM_014633.5(CTR9):c.2906G>A (p.Gly969Glu) rs2135385174
NM_014633.5(CTR9):c.291T>A (p.Ala97=)
NM_014633.5(CTR9):c.2926G>A (p.Glu976Lys) rs1863213336
NM_014633.5(CTR9):c.2927A>C (p.Glu976Ala)
NM_014633.5(CTR9):c.2931T>G (p.Asn977Lys)
NM_014633.5(CTR9):c.2934C>T (p.Gly978=)
NM_014633.5(CTR9):c.2941C>T (p.Pro981Ser) rs964105038
NM_014633.5(CTR9):c.2951G>A (p.Arg984Gln)
NM_014633.5(CTR9):c.2952A>G (p.Arg984=)
NM_014633.5(CTR9):c.2957C>T (p.Pro986Leu)
NM_014633.5(CTR9):c.2958A>G (p.Pro986=) rs1223432047
NM_014633.5(CTR9):c.295A>T (p.Lys99Ter)
NM_014633.5(CTR9):c.2983-17T>C
NM_014633.5(CTR9):c.2983-6C>G
NM_014633.5(CTR9):c.298G>A (p.Glu100Lys)
NM_014633.5(CTR9):c.2995C>T (p.Arg999Cys)
NM_014633.5(CTR9):c.3020A>G (p.Lys1007Arg) rs1863219079
NM_014633.5(CTR9):c.3032A>G (p.Lys1011Arg)
NM_014633.5(CTR9):c.3057C>T (p.Asp1019=)
NM_014633.5(CTR9):c.3060T>C (p.Ser1020=)
NM_014633.5(CTR9):c.3071A>G (p.Asp1024Gly)
NM_014633.5(CTR9):c.3084T>C (p.Ile1028=)
NM_014633.5(CTR9):c.3095+104_3095+109del rs72259410
NM_014633.5(CTR9):c.3095+13C>T rs1863220963
NM_014633.5(CTR9):c.3095+232C>A rs114386774
NM_014633.5(CTR9):c.3095+3A>G
NM_014633.5(CTR9):c.3095+4G>A
NM_014633.5(CTR9):c.3095G>A (p.Gly1032Glu)
NM_014633.5(CTR9):c.3096-11A>G
NM_014633.5(CTR9):c.30C>G (p.Leu10=)
NM_014633.5(CTR9):c.3113A>G (p.Asn1038Ser)
NM_014633.5(CTR9):c.311A>G (p.Asp104Gly)
NM_014633.5(CTR9):c.3123T>C (p.Ser1041=)
NM_014633.5(CTR9):c.3132C>T (p.Asp1044=)
NM_014633.5(CTR9):c.3133G>A (p.Glu1045Lys)
NM_014633.5(CTR9):c.3135G>A (p.Glu1045=)
NM_014633.5(CTR9):c.3139G>A (p.Glu1047Lys) rs567678481
NM_014633.5(CTR9):c.3139G>C (p.Glu1047Gln)
NM_014633.5(CTR9):c.313A>G (p.Asn105Asp) rs2135356157
NM_014633.5(CTR9):c.3153A>T (p.Lys1051Asn)
NM_014633.5(CTR9):c.3159C>G (p.Ala1053=)
NM_014633.5(CTR9):c.3161C>T (p.Ser1054Leu)
NM_014633.5(CTR9):c.3166G>T (p.Glu1056Ter) rs2135389141
NM_014633.5(CTR9):c.3205G>A (p.Glu1069Lys)
NM_014633.5(CTR9):c.3217C>T (p.Pro1073Ser)
NM_014633.5(CTR9):c.3227C>A (p.Pro1076Gln)
NM_014633.5(CTR9):c.3229C>T (p.Arg1077Ter) rs1863283255
NM_014633.5(CTR9):c.3230G>T (p.Arg1077Leu)
NM_014633.5(CTR9):c.3239G>A (p.Arg1080Gln)
NM_014633.5(CTR9):c.3239G>T (p.Arg1080Leu)
NM_014633.5(CTR9):c.3240G>C (p.Arg1080=)
NM_014633.5(CTR9):c.3257A>G (p.Asp1086Gly) rs1863284057
NM_014633.5(CTR9):c.3275G>A (p.Arg1092Lys)
NM_014633.5(CTR9):c.3288C>T (p.Pro1096=)
NM_014633.5(CTR9):c.3306T>C (p.Ser1102=)
NM_014633.5(CTR9):c.3323A>T (p.Gln1108Leu)
NM_014633.5(CTR9):c.3324G>A (p.Gln1108=)
NM_014633.5(CTR9):c.3332G>C (p.Arg1111Thr) rs766519056
NM_014633.5(CTR9):c.3334A>G (p.Ser1112Gly)
NM_014633.5(CTR9):c.3336C>A (p.Ser1112Arg)
NM_014633.5(CTR9):c.3346G>C (p.Val1116Leu)
NM_014633.5(CTR9):c.3352G>A (p.Glu1118Lys)
NM_014633.5(CTR9):c.3357C>T (p.Asn1119=)
NM_014633.5(CTR9):c.3360C>G (p.Asp1120Glu) rs1863286852
NM_014633.5(CTR9):c.3360C>T (p.Asp1120=)
NM_014633.5(CTR9):c.3364C>T (p.Arg1122Cys)
NM_014633.5(CTR9):c.3365G>C (p.Arg1122Pro)
NM_014633.5(CTR9):c.3368C>T (p.Pro1123Leu)
NM_014633.5(CTR9):c.3369A>G (p.Pro1123=)
NM_014633.5(CTR9):c.3370G>C (p.Ala1124Pro)
NM_014633.5(CTR9):c.3380G>A (p.Ser1127Asn)
NM_014633.5(CTR9):c.3383C>G (p.Ala1128Gly) rs1390026622
NM_014633.5(CTR9):c.3384C>T (p.Ala1128=)
NM_014633.5(CTR9):c.3385G>A (p.Glu1129Lys)
NM_014633.5(CTR9):c.3385G>C (p.Glu1129Gln)
NM_014633.5(CTR9):c.339C>T (p.Ala113=)
NM_014633.5(CTR9):c.3401C>T (p.Ser1134Leu)
NM_014633.5(CTR9):c.3402G>A (p.Ser1134=) rs147016884
NM_014633.5(CTR9):c.3403G>A (p.Glu1135Lys)
NM_014633.5(CTR9):c.3410G>C (p.Gly1137Ala)
NM_014633.5(CTR9):c.3416A>G (p.Asp1139Gly)
NM_014633.5(CTR9):c.3425G>A (p.Gly1142Asp) rs767925784
NM_014633.5(CTR9):c.342C>T (p.Thr114=)
NM_014633.5(CTR9):c.3441T>C (p.Ser1147=)
NM_014633.5(CTR9):c.3442G>C (p.Gly1148Arg)
NM_014633.5(CTR9):c.3443G>A (p.Gly1148Glu)
NM_014633.5(CTR9):c.3446A>G (p.Asn1149Ser)
NM_014633.5(CTR9):c.3446A>T (p.Asn1149Ile)
NM_014633.5(CTR9):c.3459A>T (p.Pro1153=)
NM_014633.5(CTR9):c.3470A>C (p.Asn1157Thr) rs541490334
NM_014633.5(CTR9):c.3470A>T (p.Asn1157Ile) rs541490334
NM_014633.5(CTR9):c.3476A>C (p.Glu1159Ala)
NM_014633.5(CTR9):c.3480C>T (p.Ala1160=)
NM_014633.5(CTR9):c.348G>A (p.Leu116=) rs2135356207
NM_014633.5(CTR9):c.3492C>T (p.Gly1164=)
NM_014633.5(CTR9):c.3493T>A (p.Ser1165Thr)
NM_014633.5(CTR9):c.3496G>C (p.Glu1166Gln) rs1054206320
NM_014633.5(CTR9):c.3499C>T (p.His1167Tyr)
NM_014633.5(CTR9):c.3509A>T (p.Asp1170Val)
NM_014633.5(CTR9):c.3512A>T (p.Asp1171Val)
NM_014633.5(CTR9):c.3522G>A (p.Ter1174=)
NM_014633.5(CTR9):c.355A>G (p.Met119Val) rs2135356216
NM_014633.5(CTR9):c.373A>G (p.Met125Val) rs1862865944
NM_014633.5(CTR9):c.384+133G>C rs57192985
NM_014633.5(CTR9):c.384+19T>A
NM_014633.5(CTR9):c.384+9A>G
NM_014633.5(CTR9):c.385-7T>C
NM_014633.5(CTR9):c.385-9A>C
NM_014633.5(CTR9):c.386A>G (p.Asn129Ser)
NM_014633.5(CTR9):c.45+6T>G rs779754878
NM_014633.5(CTR9):c.45+9C>A
NM_014633.5(CTR9):c.450A>G (p.Ala150=)
NM_014633.5(CTR9):c.45G>A (p.Glu15=)
NM_014633.5(CTR9):c.46-10del rs774921914
NM_014633.5(CTR9):c.46-227C>T rs6484480
NM_014633.5(CTR9):c.46-3dup rs745549347
NM_014633.5(CTR9):c.470A>G (p.Asn157Ser) rs1862874855
NM_014633.5(CTR9):c.480A>G (p.Pro160=)
NM_014633.5(CTR9):c.484A>G (p.Asn162Asp) rs1862875237
NM_014633.5(CTR9):c.500T>G (p.Leu167Arg) rs1862875393
NM_014633.5(CTR9):c.502+10C>G rs766311213
NM_014633.5(CTR9):c.502+137C>T rs145240803
NM_014633.5(CTR9):c.503-3C>A
NM_014633.5(CTR9):c.503-6T>C
NM_014633.5(CTR9):c.503-8C>G
NM_014633.5(CTR9):c.50T>C (p.Ile17Thr) rs2135353090
NM_014633.5(CTR9):c.520T>C (p.Phe174Leu)
NM_014633.5(CTR9):c.521T>A (p.Phe174Tyr)
NM_014633.5(CTR9):c.547C>G (p.Leu183Val)
NM_014633.5(CTR9):c.554A>G (p.Tyr185Cys)
NM_014633.5(CTR9):c.554A>T (p.Tyr185Phe)
NM_014633.5(CTR9):c.572G>A (p.Arg191His) rs753118059
NM_014633.5(CTR9):c.575C>G (p.Thr192Ser)
NM_014633.5(CTR9):c.583G>A (p.Gly195Arg)
NM_014633.5(CTR9):c.592+18T>G
NM_014633.5(CTR9):c.592+19_592+23del
NM_014633.5(CTR9):c.592+2T>C
NM_014633.5(CTR9):c.593del (p.Ala198fs)
NM_014633.5(CTR9):c.594G>T (p.Ala198=)
NM_014633.5(CTR9):c.597A>T (p.Glu199Asp)
NM_014633.5(CTR9):c.614G>T (p.Gly205Val)
NM_014633.5(CTR9):c.616C>T (p.His206Tyr)
NM_014633.5(CTR9):c.625G>T (p.Val209Leu)
NM_014633.5(CTR9):c.630A>G (p.Lys210=)
NM_014633.5(CTR9):c.636C>T (p.Asn212=)
NM_014633.5(CTR9):c.652C>T (p.Arg218Cys)
NM_014633.5(CTR9):c.675G>A (p.Leu225=)
NM_014633.5(CTR9):c.686C>G (p.Ser229Cys)
NM_014633.5(CTR9):c.687C>T (p.Ser229=)
NM_014633.5(CTR9):c.6G>T (p.Ser2=) rs1334187115
NM_014633.5(CTR9):c.700G>A (p.Ala234Thr)
NM_014633.5(CTR9):c.739G>C (p.Glu247Gln)
NM_014633.5(CTR9):c.741+15A>G
NM_014633.5(CTR9):c.741+170G>A rs117150241
NM_014633.5(CTR9):c.741+17dup rs773599215
NM_014633.5(CTR9):c.741+286del rs147350120
NM_014633.5(CTR9):c.741+286dup rs147350120
NM_014633.5(CTR9):c.741+6T>G
NM_014633.5(CTR9):c.74C>T (p.Pro25Leu)
NM_014633.5(CTR9):c.762_763inv (p.Val255Ile)
NM_014633.5(CTR9):c.799A>G (p.Ser267Gly)
NM_014633.5(CTR9):c.802A>G (p.Asn268Asp)
NM_014633.5(CTR9):c.811G>A (p.Val271Ile)
NM_014633.5(CTR9):c.837T>C (p.Phe279=) rs1357487119
NM_014633.5(CTR9):c.845A>G (p.Lys282Arg)
NM_014633.5(CTR9):c.849+10A>G
NM_014633.5(CTR9):c.849+20A>G
NM_014633.5(CTR9):c.849+4G>A
NM_014633.5(CTR9):c.850-16T>C
NM_014633.5(CTR9):c.856A>G (p.Ser286Gly) rs1206860654
NM_014633.5(CTR9):c.85G>C (p.Glu29Gln)
NM_014633.5(CTR9):c.869A>G (p.His290Arg) rs2135367906
NM_014633.5(CTR9):c.86A>G (p.Glu29Gly)
NM_014633.5(CTR9):c.882T>C (p.His294=) rs2135367920
NM_014633.5(CTR9):c.897A>G (p.Thr299=) rs2135367928
NM_014633.5(CTR9):c.909T>C (p.Ala303=)
NM_014633.5(CTR9):c.920A>G (p.Glu307Gly)
NM_014633.5(CTR9):c.957+10T>A
NM_014633.5(CTR9):c.957+16C>T
NM_014633.5(CTR9):c.958-17T>A
NM_014633.5(CTR9):c.979C>T (p.Gln327Ter) rs2135368218
NM_014633.5(CTR9):c.986A>G (p.Tyr329Cys) rs2135368223
NM_014633.5(CTR9):c.990T>C (p.Tyr330=) rs2135368233
NM_014633.5(CTR9):c.996C>T (p.Ala332=)
NM_014633.5(CTR9):c.997A>G (p.Thr333Ala)

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.